Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
Germline SAMD9 and SAMD9L mutations ( SAMD9/9L mut ) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort ( n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and cl...
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| Published in | Nature medicine Vol. 27; no. 10; pp. 1806 - 1817 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.10.2021
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1078-8956 1546-170X 1546-170X |
| DOI | 10.1038/s41591-021-01511-6 |
Cover
| Abstract | Germline
SAMD9
and
SAMD9L
mutations (
SAMD9/9L
mut
) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (
n
= 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline
SAMD9/9L
mut
accounted for 8% and were mutually exclusive with
GATA2
mutations present in 7% of the cohort. Among
SAMD9/9L
mut
cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline
SAMD9/9L
mut
clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of
SAMD9/9L
mut
suppressed HEK293 cell growth, and mutations expressed in CD34
+
cells induced overt cell death. Furthermore, we found that 61% of
SAMD9/9L
mut
patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic
SAMD9/9L
mut
). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in
SAMD9/9L
mut
MDS and exemplify the exceptional plasticity of hematopoiesis in children.
This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome. |
|---|---|
| AbstractList | Germline SAMD9 and SAMD9L mutations (SAMD9/9L.sup.mut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L.sup.mut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9L.sup.mut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L.sup.mut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L.sup.mut suppressed HEK293 cell growth, and mutations expressed in CD34.sup.+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L.sup.mut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 [plus or minus] cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L.sup.mut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L.sup.mut MDS and exemplify the exceptional plasticity of hematopoiesis in children. Germline SAMD9 and SAMD9L mutations ( SAMD9/9L mut ) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort ( n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L mut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9L mut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L mut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L mut suppressed HEK293 cell growth, and mutations expressed in CD34 + cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L mut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L mut ). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L mut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome. Germline SAMD9 and SAMD9L mutations ( SAMD9/9L mut ) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. Here, we investigated a clinically annotated pediatric MDS cohort (n=669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L mut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7%. Among SAMD9/9L mut cases, refractory cytopenia was the most prevalent MDS subtype (90%), acquired monosomy 7 was present in 38%, constitutional abnormalities in 57%, and immune dysfunction in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L mut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L mut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L mut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 +/− cancer mutations) and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L mut ). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L mut MDS and exemplify the exceptional plasticity of hematopoiesis in children. Germline SAMD9 and SAMD9L mutations (SAMD9/9L.sup.mut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L.sup.mut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9L.sup.mut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L.sup.mut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L.sup.mut suppressed HEK293 cell growth, and mutations expressed in CD34.sup.+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L.sup.mut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 [plus or minus] cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L.sup.mut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L.sup.mut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome. Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome. Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children. © 2021, The Author(s), under exclusive licence to Springer Nature America, Inc. Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children. Germline SAMD9 and SAMD9L mutations (SAMD9/9L ) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9L cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L suppressed HEK293 cell growth, and mutations expressed in CD34 cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L ). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L MDS and exemplify the exceptional plasticity of hematopoiesis in children. |
| Audience | Academic |
| Author | Locatelli, Franco Ussowicz, Marek Turkiewicz, Dominik Polychronopoulou, Sophia Sahoo, Sushree S. Panda, Pritam K. Erlacher, Miriam Schmugge, Markus Hirabayashi, Shinsuke Hasle, Henrik Fabri, Oksana Beier, Rita Schulz, Ansgar Müller, Ingo Noellke, Peter Yoshimi-Noellke, Ayami Jahnukainen, Kirsi Durruthy-Durruthy, Robert Pastor, Victor B. Sauer, Martin G. Wlodarski, Marcin W. Masetti, Riccardo De Moerloose, Barbara Schwarz-Furlan, Stephan Kozyra, Emilia J. Kállay, Krisztián Lebrecht, Dirk Bader, Peter Cario, Gunnar Albert, Michael H. Goodings, Charnise Buechner, Jochen Niewisch, Marena R. Meisel, Roland Lang, Peter Voss, Rebecca K. Wehrle, Julius Barzilai, Shlomit Catala, Albert Strahm, Brigitte Niemeyer, Charlotte M. Göhring, Gudrun Flotho, Christian Szvetnik, Amina Derecka, Marta Ku, Manching de Haas, Valerie Burkhardt, Birgit Starý, Jan Dworzak, Michael Smith, Owen P. Baumann, Irith |
| AuthorAffiliation | 32) Department of Pediatrics, University Medical Center Ulm, Ulm, Germany 25) Pediatric Hematology and Oncology, University Hospital Muenster, Muenster, Germany 23) Institute of Pathology, University Hospital Erlangen, Erlangen, Germany 33) Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany 13) Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark 15) Division of Hematology-Oncology and SCT Children′s Hospital, University of Helsinki and Helsinki University Hospital, Hus, Finland 35) Institute of Digitalization in Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany 2) Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany 1) Department of Hematology, St. Jude Children’s Research Hospital, Memphis, TN, USA 31) Department of Pediatric Oncology, Hematology and Clinical Immunology, Division of Pediatri |
| AuthorAffiliation_xml | – name: 12) Department of Pediatric Oncology/Hematology, Skåne University Hospital, Lund, Sweden – name: 17) Department of Pediatric Hematology/Oncology, Aghia Sophia Children’s Hospital, Athens, Greece – name: 5) Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic – name: 25) Pediatric Hematology and Oncology, University Hospital Muenster, Muenster, Germany – name: 30) Department of Pediatrics, Dr. von Hauner Children′s Hospital, University Hospital, LMU Munich, Munich, Germany – name: 1) Department of Hematology, St. Jude Children’s Research Hospital, Memphis, TN, USA – name: 18) Department of Pediatric Haematology/Oncology, Children’s Health Ireland at Crumlin, Dublin, Ireland – name: 20) Pediatric Hematology Oncology, Schneider Children’s Medical Center of Israel, Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Israel – name: 23) Institute of Pathology, University Hospital Erlangen, Erlangen, Germany – name: 31) Department of Pediatric Oncology, Hematology and Clinical Immunology, Division of Pediatric Stem Cell Therapy, Medical Faculty, Heinrich-Heine-University, Duesseldorf, Germany – name: 14) Department of Pediatric Hematology and Oncology, Oslo University Hospital, Oslo, Norway – name: 16) Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, BMT Unit CIC 817, Wroclaw Medical University, Wroclaw, Poland – name: 37) Department of Human Genetics, Hannover Medical School, Hannover, Germany – name: 29) Division of Pediatric Hematology and Oncology, Clinic of Pedatric Hematology and Oncology, University Medical Center of Hamburg-Eppendorf, Hamburg, Germany – name: 38) German Cancer Consortium (DKTK), Heidelberg and Freiburg, Germany – name: 28) University Hospital Essen, Pediatric Haematology and Oncology, Essen, Germany – name: 32) Department of Pediatrics, University Medical Center Ulm, Ulm, Germany – name: 33) Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany – name: 11) Department of Pediatric Hematology and Stem Cell Transplantation, Central Hospital of Southern Pest - National Institute of Hematology and Infectious Diseases, Budapest, Hungary – name: 4) Department of Pediatrics, St. Anna Children’s Hospital and Children’s Cancer Research Institute, Medical University of Vienna, Vienna, Austria – name: 13) Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark – name: 24) Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany – name: 3) Faculty of Biology, University of Freiburg, Freiburg, Germany – name: 19) Department. of Haematology and Transfusiology, National Institute of Children’s Diseases Faculty of Medicine, Comenius University, Bratislava, Slovakia – name: 35) Institute of Digitalization in Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany – name: 34) Department of Medicine I, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany – name: 26) Department of Hematology/Oncology and General Pediatrics, Children’s University Hospital, University of Tübingen, Tübingen, Germany – name: 6) Department of Pediatric Hematology and Oncology, IRCCS Ospedale Pediatrico Bambino Gesù; Sapienza University of Rome, Italy – name: 7) Paediatric Oncology and Haematology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy – name: 10) Department of Hematology and Oncology, Hospital Sant Joan de Deu, Barcelona, Spain – name: 36) Mission Bio Inc., South San Francisco, CA, USA – name: 9) Department of Paediatric Haematology-Oncology, Ghent University Hospital Ghent, Belgium – name: 15) Division of Hematology-Oncology and SCT Children′s Hospital, University of Helsinki and Helsinki University Hospital, Hus, Finland – name: 21) Dutch Childhood Oncology Group, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands – name: 8) Department of Hematology and Oncology, University Children’s Hospital, Zurich, Switzerland – name: 2) Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany – name: 27) Division for Stem Cell Transplantation and Immunology, Department for Children and Adolescents, University Hospital Frankfurt, Frankfurt am Main, Germany – name: 22) Institute of Pathology, Klinikum Kaufbeuren-Ravensburg, Kaufbeuren, Germany |
| Author_xml | – sequence: 1 givenname: Sushree S. surname: Sahoo fullname: Sahoo, Sushree S. organization: Department of Hematology, St. Jude Children’s Research Hospital, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 2 givenname: Victor B. surname: Pastor fullname: Pastor, Victor B. organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 3 givenname: Charnise surname: Goodings fullname: Goodings, Charnise organization: Department of Hematology, St. Jude Children’s Research Hospital – sequence: 4 givenname: Rebecca K. surname: Voss fullname: Voss, Rebecca K. organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 5 givenname: Emilia J. orcidid: 0000-0003-1107-8818 surname: Kozyra fullname: Kozyra, Emilia J. organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Faculty of Biology, University of Freiburg – sequence: 6 givenname: Amina surname: Szvetnik fullname: Szvetnik, Amina organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 7 givenname: Peter orcidid: 0000-0002-0281-4732 surname: Noellke fullname: Noellke, Peter organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 8 givenname: Michael surname: Dworzak fullname: Dworzak, Michael organization: Department of Pediatrics, St. Anna Children’s Hospital and Children’s Cancer Research Institute, Medical University of Vienna – sequence: 9 givenname: Jan surname: Starý fullname: Starý, Jan organization: Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol – sequence: 10 givenname: Franco surname: Locatelli fullname: Locatelli, Franco organization: Department of Pediatric Hematology and Oncology, IRCCS Ospedale Pediatrico Bambino Gesù, Sapienza University of Rome – sequence: 11 givenname: Riccardo surname: Masetti fullname: Masetti, Riccardo organization: Paediatric Oncology and Haematology, IRCCS Azienda Ospedaliero-Universitaria di Bologna – sequence: 12 givenname: Markus surname: Schmugge fullname: Schmugge, Markus organization: Department of Hematology and Oncology, University Children’s Hospital – sequence: 13 givenname: Barbara orcidid: 0000-0002-2449-539X surname: De Moerloose fullname: De Moerloose, Barbara organization: Department of Paediatric Haematology-Oncology, Ghent University Hospital Ghent – sequence: 14 givenname: Albert surname: Catala fullname: Catala, Albert organization: Department of Hematology and Oncology, Hospital Sant Joan de Deu – sequence: 15 givenname: Krisztián surname: Kállay fullname: Kállay, Krisztián organization: Department of Pediatric Hematology and Stem Cell Transplantation, Central Hospital of Southern Pest - National Institute of Hematology and Infectious Diseases – sequence: 16 givenname: Dominik surname: Turkiewicz fullname: Turkiewicz, Dominik organization: Department of Pediatric Oncology/Hematology, Skåne University Hospital – sequence: 17 givenname: Henrik orcidid: 0000-0003-3976-9231 surname: Hasle fullname: Hasle, Henrik organization: Department of Pediatrics, Aarhus University Hospital – sequence: 18 givenname: Jochen orcidid: 0000-0001-5848-4501 surname: Buechner fullname: Buechner, Jochen organization: Department of Pediatric Hematology and Oncology, Oslo University Hospital – sequence: 19 givenname: Kirsi surname: Jahnukainen fullname: Jahnukainen, Kirsi organization: Division of Hematology-Oncology and SCT Children’s Hospital, University of Helsinki and Helsinki University Hospital – sequence: 20 givenname: Marek orcidid: 0000-0001-5725-4835 surname: Ussowicz fullname: Ussowicz, Marek organization: Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University – sequence: 21 givenname: Sophia surname: Polychronopoulou fullname: Polychronopoulou, Sophia organization: Department of Pediatric Hematology/Oncology, Aghia Sophia Children’s Hospital – sequence: 22 givenname: Owen P. surname: Smith fullname: Smith, Owen P. organization: Department of Pediatric Haematology/Oncology, Children’s Health Ireland at Crumlin – sequence: 23 givenname: Oksana surname: Fabri fullname: Fabri, Oksana organization: Department. of Haematology and Transfusiology, National Institute of Children’s Diseases Faculty of Medicine, Comenius University – sequence: 24 givenname: Shlomit surname: Barzilai fullname: Barzilai, Shlomit organization: Pediatric Hematology Oncology, Schneider Children’s Medical Center of Israel, Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University – sequence: 25 givenname: Valerie surname: de Haas fullname: de Haas, Valerie organization: Dutch Childhood Oncology Group, Princess Máxima Center for Pediatric Oncology – sequence: 26 givenname: Irith surname: Baumann fullname: Baumann, Irith organization: Institute of Pathology, Klinikum Kaufbeuren-Ravensburg – sequence: 27 givenname: Stephan surname: Schwarz-Furlan fullname: Schwarz-Furlan, Stephan organization: Institute of Pathology, Klinikum Kaufbeuren-Ravensburg, Institute of Pathology, University Hospital Erlangen – sequence: 29 givenname: Marena R. surname: Niewisch fullname: Niewisch, Marena R. organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 30 givenname: Martin G. surname: Sauer fullname: Sauer, Martin G. organization: Department of Pediatric Hematology and Oncology, Hannover Medical School – sequence: 31 givenname: Birgit orcidid: 0000-0002-1151-829X surname: Burkhardt fullname: Burkhardt, Birgit organization: Pediatric Hematology and Oncology, University Hospital Muenster – sequence: 32 givenname: Peter surname: Lang fullname: Lang, Peter organization: Department of Hematology/Oncology and General Pediatrics, Children’s University Hospital, University of Tübingen – sequence: 33 givenname: Peter surname: Bader fullname: Bader, Peter organization: Division for Stem Cell Transplantation and Immunology, Department for Children and Adolescents, University Hospital Frankfurt – sequence: 34 givenname: Rita surname: Beier fullname: Beier, Rita organization: University Hospital Essen, Pediatric Haematology and Oncology – sequence: 35 givenname: Ingo orcidid: 0000-0002-7477-6632 surname: Müller fullname: Müller, Ingo organization: Division of Pediatric Hematology and Oncology, Clinic of Pedatric Hematology and Oncology, University Medical Center of Hamburg-Eppendorf – sequence: 36 givenname: Michael H. orcidid: 0000-0001-9143-3263 surname: Albert fullname: Albert, Michael H. organization: Department of Pediatrics, Dr. von Hauner Children´s Hospital, University Hospital, LMU Munich – sequence: 37 givenname: Roland surname: Meisel fullname: Meisel, Roland organization: Department of Pediatric Oncology, Hematology and Clinical Immunology, Division of Pediatric Stem Cell Therapy, Medical Faculty, Heinrich Heine University – sequence: 38 givenname: Ansgar orcidid: 0000-0002-7798-7996 surname: Schulz fullname: Schulz, Ansgar organization: Department of Pediatrics, University Medical Center Ulm – sequence: 39 givenname: Gunnar surname: Cario fullname: Cario, Gunnar organization: Department of Pediatrics, University Hospital Schleswig-Holstein – sequence: 40 givenname: Pritam K. orcidid: 0000-0003-4879-2302 surname: Panda fullname: Panda, Pritam K. organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 41 givenname: Julius orcidid: 0000-0001-6514-4230 surname: Wehrle fullname: Wehrle, Julius organization: Department of Medicine I, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Institute of Digitalization in Medicine, Faculty of Medicine, University of Freiburg – sequence: 42 givenname: Shinsuke surname: Hirabayashi fullname: Hirabayashi, Shinsuke organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 43 givenname: Marta surname: Derecka fullname: Derecka, Marta organization: Department of Hematology, St. Jude Children’s Research Hospital – sequence: 44 givenname: Robert surname: Durruthy-Durruthy fullname: Durruthy-Durruthy, Robert organization: Mission Bio Inc – sequence: 45 givenname: Gudrun surname: Göhring fullname: Göhring, Gudrun organization: Department of Human Genetics, Hannover Medical School – sequence: 46 givenname: Ayami surname: Yoshimi-Noellke fullname: Yoshimi-Noellke, Ayami organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 47 givenname: Manching orcidid: 0000-0001-5168-4308 surname: Ku fullname: Ku, Manching organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 48 givenname: Dirk surname: Lebrecht fullname: Lebrecht, Dirk organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 49 givenname: Miriam orcidid: 0000-0002-7261-1447 surname: Erlacher fullname: Erlacher, Miriam organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, German Cancer Consortium (DKTK) – sequence: 50 givenname: Christian surname: Flotho fullname: Flotho, Christian organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, German Cancer Consortium (DKTK) – sequence: 51 givenname: Brigitte orcidid: 0000-0002-6086-130X surname: Strahm fullname: Strahm, Brigitte organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg – sequence: 52 givenname: Charlotte M. orcidid: 0000-0003-3856-7937 surname: Niemeyer fullname: Niemeyer, Charlotte M. organization: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, German Cancer Consortium (DKTK) – sequence: 53 givenname: Marcin W. orcidid: 0000-0001-6638-9643 surname: Wlodarski fullname: Wlodarski, Marcin W. email: marcin.wlodarski@stjude.org organization: Department of Hematology, St. Jude Children’s Research Hospital, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/34621053$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.3892/ol.2015.4000 10.1128/JVI.02243-10 10.1371/journal.ppat.1006884 10.1016/j.bbmt.2019.07.007 10.1530/EJE-17-0027 10.1056/NEJMoa1611604 10.1038/nmeth0810-575 10.1016/j.mrrev.2010.04.002 10.1093/bioinformatics/btu703 10.1038/jid.2011.61 10.1186/1471-2164-8-92 10.1038/s41375-019-0385-0 10.1186/s12882-020-02011-4 10.1002/ajmg.a.38557 10.1038/s41576-019-0139-x 10.1182/bloodadvances.2017012682 10.1038/leu.2016.342 10.1073/pnas.1515354112 10.1002/pbc.27726 10.1128/JVI.02262-14 10.1016/j.jmb.2004.08.023 10.3324/haematol.2018.207316 10.1086/508069 10.1136/jmedgenet-2012-101477 10.1186/s12883-019-1319-1 10.1038/gim.2018.3 10.1016/j.jaut.2018.03.002 10.1182/blood-2010-04-280313 10.1038/gim.2016.44 10.1038/ng.3177 10.1002/pbc.27589 10.1038/nature14497 10.1016/j.cell.2018.02.060 10.1038/nmeth0410-248 10.1038/s41467-019-09198-7 10.1038/nature25795 10.1038/nrg3031 10.1182/blood-2013-08-518886 10.1093/nar/gkr407 10.1002/humu.22932 10.1016/j.virol.2017.01.004 10.1038/ng.3569 10.1371/journal.pone.0206184 10.1038/s41375-019-0675-6 10.1182/blood-2017-09-806489 10.1038/s41467-017-01590-5 10.1038/gim.2015.30 10.3324/haematol.2017.180778 10.1038/nature19057 10.1093/nar/gkg509 10.1038/gim.2017.37 10.1016/j.ccr.2013.08.011 10.1186/s12881-018-0546-4 10.1186/s13059-016-1141-7 10.1093/bioinformatics/btv009 10.1186/s13062-017-0185-2 10.1053/j.seminhematol.2017.05.002 10.1038/nature25480 10.1016/j.ajhg.2016.08.016 10.1038/ng.2892 10.1016/j.ajhg.2016.04.009 10.1186/1471-2148-13-121 10.1093/nar/gkq603 10.1038/leu.2017.142 10.1136/jmedgenet-2017-105020 10.1084/jem.20201195 10.1172/JCI91913 10.4274/jcrpe.galenos.2019.2019.0053 10.1172/JCI140147 10.1172/jci.insight.121086 10.1038/s41375-021-01212-6 10.1182/blood-2016-10-743302 10.1111/bjh.17006 |
| ContentType | Journal Article |
| Contributor | Smith, Owen O'Sullivan, Maureen Schlegelberger, Brigitte Vito, Rita De Gengler, Carole Clasen-Linde, Erik Kjollerstrom, Paula Rudelius, Martina Alaiz, Helena Gazic, Barbara Kavcic, Marko Maldyk, Jadwiga Jeison, Marta Zemanova, Zuzana Kallay, Krisztián Moerloose, Barbara De Paepe, Pascale De Tchinda, Joelle Leguit, Roos Pasquali, Francesco Lemos, Luis Mascarenhas de Betts, David Čermák, Martin Podgornik, Helena Andrikovics, Hajnalka Niemeyer, Charlotte Cervera, Jose Haas, Valérie De Haus, Olga Beverloo, Berna Simonitsch-Kluppp, Ingrid Van Roy, Nadine Nebral, Karin Csomor, Judit Plesner, Tine Bodova, Ivana Ros, Margarita Llavador Zohar, Yaniv Plank, Lukas Stefanaki, Kalliopi Starý, Jan Campr, Vit Manola, Kalliopi Gohring, Gudrun |
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| Copyright | The Author(s), under exclusive licence to Springer Nature America, Inc. 2021. corrected publication 2021 2021. The Author(s), under exclusive licence to Springer Nature America, Inc. COPYRIGHT 2021 Nature Publishing Group The Author(s), under exclusive licence to Springer Nature America, Inc. 2021. |
| Copyright_xml | – notice: The Author(s), under exclusive licence to Springer Nature America, Inc. 2021. corrected publication 2021 – notice: 2021. The Author(s), under exclusive licence to Springer Nature America, Inc. – notice: COPYRIGHT 2021 Nature Publishing Group – notice: The Author(s), under exclusive licence to Springer Nature America, Inc. 2021. |
| CorporateAuthor | the European Working Group of MDS in Children (EWOG-MDS) European Working Group of MDS in Children (EWOG-MDS) Department of Clinical Sciences, Lund Pediatrik, Lund Section V Faculty of Medicine Institutionen för kliniska vetenskaper, Lund Paediatrics (Lund) Lunds universitet Medicinska fakulteten Lund University Sektion V |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 AUTHOR CONTRIBUTIONS A list of authors and their affiliations appears at the end of the paper. MWW, SSS and CMN designed the research; VBP, SSS, CG, AS, DL, PKP, JW and RDD performed genomic studies and analyzed data; SSS, EK, AS and CG accomplished functional studies; MWW, RKV, PN, ME, BS and CMN analyzed and interpreted clinical data; PN performed clinical statistical analysis; MD, JS, FL, RM, MS, BDM, AC, KK, DT, HH, JB, KJ, MU, SP, OPS, OF, SB, VH, IB, SSF, MRN, MGS, BB, PL, PB, RB, IM, MHA, RM, AS, GC, SH, GG, AYN, MC, ME, CF, BS, CMN and MWW were involved in patient care, testing and data presentation; SSS, MWW and CMN wrote the manuscript. All authors contributed to the manuscript and approved its final version. |
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| References | Shima (CR23) 2018; 13 Ahmed (CR36) 2019; 25 Wang, Li, Hakonarson (CR57) 2010; 38 Topaz (CR3) 2006; 79 Huisman, Redeker, Maas, Mannens, Hennekam (CR41) 2013; 50 Meng (CR12) 2018; 14 CR37 Liu, McFadden (CR4) 2015; 89 CR34 Richards (CR49) 2015; 17 Schwarz, Rodelsperger, Schuelke, Seelow (CR65) 2010; 7 Liu, Wennier, Zhang, McFadden (CR9) 2011; 85 CR31 Sarthy (CR47) 2018; 2 Schwartz (CR18) 2017; 31 Kim (CR21) 2018; 19 Papaemmanuil (CR55) 2013; 122 Pastor (CR56) 2017; 31 Takaoka (CR74) 2019; 33 Bluteau (CR32) 2018; 131 Amano (CR19) 2017; 177 Revy, Kannengiesser, Fischer (CR40) 2019; 20 Jordan (CR43) 2015; 524 Cordero, Alcocer-Gomez, Ryffel (CR45) 2018; 91 CR8 CR7 Bamshad (CR38) 2011; 12 Kircher (CR68) 2014; 46 Lemos de Matos, Liu, McFadden, Esteves (CR1) 2013; 13 CR48 Duployez (CR72) 2020; 34 CR46 Grobner (CR52) 2018; 555 Mather (CR61) 2016; 18 Reva, Antipin, Sander (CR66) 2011; 39 Ma (CR51) 2018; 555 Quang, Chen, Xie (CR62) 2015; 31 Nykamp (CR59) 2017; 19 Nounamo (CR11) 2017; 503 Gohring (CR75) 2010; 116 Wu (CR2) 2016; 11 Bailey (CR50) 2018; 173 van der Velde (CR69) 2017; 18 Li (CR15) 2007; 8 Wlodarski, Collin, Horwitz (CR39) 2017; 54 Perisa (CR28) 2019; 66 Leipe, Koonin, Aravind (CR44) 2004; 343 CR17 Jeffries (CR20) 2018; 176 Thunstrom, Axelsson (CR25) 2019; 19 Erickson (CR42) 2010; 705 Liu, Wu, Li, Boerwinkle (CR70) 2016; 37 Ioannidis (CR58) 2016; 99 Meng, Krumm, Li, Deng, Xiang (CR10) 2015; 112 Adzhubei (CR64) 2010; 7 Shima (CR22) 2018; 55 Lindsley (CR54) 2017; 376 Shihab (CR60) 2015; 31 Schwartz (CR30) 2017; 8 Nagamachi (CR5) 2013; 24 Chen (CR16) 2016; 98 Jiang (CR14) 2011; 131 Csillag (CR24) 2019; 66 CR29 CR27 Ng, Henikoff (CR63) 2003; 31 Gelb (CR71) 2018; 20 Ishiwa (CR35) 2020; 21 Kaasinen (CR73) 2019; 10 Cheah (CR26) 2019; 104 Zhang (CR53) 2015; 47 Pastor (CR33) 2018; 103 Lek (CR67) 2016; 536 Narumi (CR6) 2016; 48 Mekhedov, Makarova, Koonin (CR13) 2017; 12 PC Ng (1511_CR63) 2003; 31 G Gohring (1511_CR75) 2010; 116 O Topaz (1511_CR3) 2006; 79 S Richards (1511_CR49) 2015; 17 K Nykamp (1511_CR59) 2017; 19 1511_CR46 BD Gelb (1511_CR71) 2018; 20 1511_CR48 YM Kim (1511_CR21) 2018; 19 S Thunstrom (1511_CR25) 2019; 19 RP Erickson (1511_CR42) 2010; 705 P Revy (1511_CR40) 2019; 20 L Wu (1511_CR2) 2016; 11 MY Zhang (1511_CR53) 2015; 47 CA Mather (1511_CR61) 2016; 18 K Takaoka (1511_CR74) 2019; 33 B Nounamo (1511_CR11) 2017; 503 MW Wlodarski (1511_CR39) 2017; 54 H Shima (1511_CR23) 2018; 13 A Nagamachi (1511_CR5) 2013; 24 DD Leipe (1511_CR44) 2004; 343 S Narumi (1511_CR6) 2016; 48 MH Bailey (1511_CR50) 2018; 173 RC Lindsley (1511_CR54) 2017; 376 N Duployez (1511_CR72) 2020; 34 KJ van der Velde (1511_CR69) 2017; 18 JR Schwartz (1511_CR18) 2017; 31 SL Mekhedov (1511_CR13) 2017; 12 V Pastor (1511_CR56) 2017; 31 1511_CR17 DH Chen (1511_CR16) 2016; 98 B Csillag (1511_CR24) 2019; 66 K Wang (1511_CR57) 2010; 38 A Lemos de Matos (1511_CR1) 2013; 13 J Sarthy (1511_CR47) 2018; 2 JJC Cheah (1511_CR26) 2019; 104 E Kaasinen (1511_CR73) 2019; 10 X Meng (1511_CR10) 2015; 112 Q Jiang (1511_CR14) 2011; 131 VB Pastor (1511_CR33) 2018; 103 L Jeffries (1511_CR20) 2018; 176 CF Li (1511_CR15) 2007; 8 1511_CR27 X Ma (1511_CR51) 2018; 555 1511_CR29 JR Schwartz (1511_CR30) 2017; 8 SN Grobner (1511_CR52) 2018; 555 N Amano (1511_CR19) 2017; 177 IA Adzhubei (1511_CR64) 2010; 7 S Ishiwa (1511_CR35) 2020; 21 B Reva (1511_CR66) 2011; 39 HA Shihab (1511_CR60) 2015; 31 J Liu (1511_CR9) 2011; 85 O Bluteau (1511_CR32) 2018; 131 J Liu (1511_CR4) 2015; 89 IA Ahmed (1511_CR36) 2019; 25 JM Schwarz (1511_CR65) 2010; 7 1511_CR31 D Quang (1511_CR62) 2015; 31 MP Perisa (1511_CR28) 2019; 66 1511_CR34 1511_CR7 NM Ioannidis (1511_CR58) 2016; 99 1511_CR8 1511_CR37 DM Jordan (1511_CR43) 2015; 524 E Papaemmanuil (1511_CR55) 2013; 122 M Lek (1511_CR67) 2016; 536 MJ Bamshad (1511_CR38) 2011; 12 M Kircher (1511_CR68) 2014; 46 SA Huisman (1511_CR41) 2013; 50 MD Cordero (1511_CR45) 2018; 91 X Liu (1511_CR70) 2016; 37 H Shima (1511_CR22) 2018; 55 X Meng (1511_CR12) 2018; 14 34799732 - Nat Med. 2021 Dec;27(12):2248. doi: 10.1038/s41591-021-01632-y 38231353 - J Clin Immunol. 2024 Jan 17;44(2):43. doi: 10.1007/s10875-023-01650-0 |
| References_xml | – volume: 11 start-page: 945 year: 2016 end-page: 952 ident: CR2 article-title: miR-96 induces cisplatin chemoresistance in non-small cell lung cancer cells by downregulating SAMD9 publication-title: Oncol. Lett. doi: 10.3892/ol.2015.4000 – volume: 85 start-page: 3270 year: 2011 end-page: 3282 ident: CR9 article-title: M062 is a host range factor essential for myxoma virus pathogenesis and functions as an antagonist of host SAMD9 in human cells publication-title: J. Virol. doi: 10.1128/JVI.02243-10 – volume: 14 start-page: e1006884 year: 2018 ident: CR12 article-title: A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection publication-title: PLoS Pathog. doi: 10.1371/journal.ppat.1006884 – volume: 25 start-page: 2186 year: 2019 end-page: 2196 ident: CR36 article-title: Outcomes of hematopoietic cell transplantation in patients with germline / mutations publication-title: Biol. Blood Marrow Transpl. doi: 10.1016/j.bbmt.2019.07.007 – volume: 177 start-page: 187 year: 2017 end-page: 194 ident: CR19 article-title: Genetic defects in pediatric-onset adrenal insufficiency in Japan publication-title: Eur. J. Endocrinol. doi: 10.1530/EJE-17-0027 – volume: 376 start-page: 536 year: 2017 end-page: 547 ident: CR54 article-title: Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa1611604 – volume: 7 start-page: 575 year: 2010 end-page: 576 ident: CR65 article-title: MutationTaster evaluates disease-causing potential of sequence alterations publication-title: Nat. Methods doi: 10.1038/nmeth0810-575 – volume: 705 start-page: 96 year: 2010 end-page: 106 ident: CR42 article-title: Somatic gene mutation and human disease other than cancer: an update publication-title: Mutat. Res. doi: 10.1016/j.mrrev.2010.04.002 – volume: 31 start-page: 761 year: 2015 end-page: 763 ident: CR62 article-title: DANN: a deep learning approach for annotating the pathogenicity of genetic variants publication-title: Bioinformatics doi: 10.1093/bioinformatics/btu703 – volume: 131 start-page: 1428 year: 2011 end-page: 1434 ident: CR14 article-title: The gene: transcriptional regulation and tissue-specific expression in mouse development publication-title: J. Invest. Dermatol doi: 10.1038/jid.2011.61 – volume: 8 year: 2007 ident: CR15 article-title: Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse publication-title: BMC Genomics doi: 10.1186/1471-2164-8-92 – volume: 33 start-page: 1773 year: 2019 end-page: 1782 ident: CR74 article-title: A germline mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination publication-title: Leukemia doi: 10.1038/s41375-019-0385-0 – volume: 21 start-page: 340 year: 2020 ident: CR35 article-title: A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report publication-title: BMC Nephrol. doi: 10.1186/s12882-020-02011-4 – volume: 176 start-page: 415 year: 2018 end-page: 420 ident: CR20 article-title: A novel mutation causing MIRAGE syndrome: an expansion and review of phenotype, dysmorphology, and natural history publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.38557 – volume: 20 start-page: 582 year: 2019 end-page: 598 ident: CR40 article-title: Somatic genetic rescue in Mendelian haematopoietic diseases publication-title: Nat. Rev. Genet. doi: 10.1038/s41576-019-0139-x – volume: 2 start-page: 120 year: 2018 end-page: 125 ident: CR47 article-title: Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype publication-title: Blood Adv. doi: 10.1182/bloodadvances.2017012682 – ident: CR29 – volume: 31 start-page: 759 year: 2017 end-page: 762 ident: CR56 article-title: Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants publication-title: Leukemia doi: 10.1038/leu.2016.342 – ident: CR8 – volume: 112 start-page: 14858 year: 2015 end-page: 14863 ident: CR10 article-title: Structural basis for antagonizing a host restriction factor by C7 family of poxvirus host-range proteins publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1515354112 – volume: 66 start-page: e27726 year: 2019 ident: CR28 article-title: A novel variant identified in patient with MIRAGE syndrome: further defining syndromic phenotype and review of previous cases publication-title: Pediatr. Blood Cancer doi: 10.1002/pbc.27726 – volume: 89 start-page: 1925 year: 2015 end-page: 1931 ident: CR4 article-title: SAMD9 is an innate antiviral host factor with stress response properties that can be antagonized by poxviruses publication-title: J. Virol. doi: 10.1128/JVI.02262-14 – volume: 343 start-page: 1 year: 2004 end-page: 28 ident: CR44 article-title: STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer publication-title: J. Mol. Biol. doi: 10.1016/j.jmb.2004.08.023 – volume: 104 start-page: e318 year: 2019 end-page: e321 ident: CR26 article-title: A novel germline mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia publication-title: Haematologica doi: 10.3324/haematol.2018.207316 – volume: 79 start-page: 759 year: 2006 end-page: 764 ident: CR3 article-title: A deleterious mutation in causes normophosphatemic familial tumoral calcinosis publication-title: Am. J. Hum. Genet. doi: 10.1086/508069 – ident: CR46 – volume: 50 start-page: 339 year: 2013 end-page: 344 ident: CR41 article-title: High rate of mosaicism in individuals with Cornelia de Lange syndrome publication-title: J. Med. Genet. doi: 10.1136/jmedgenet-2012-101477 – volume: 19 year: 2019 ident: CR25 article-title: Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the gene, ends 27 years of investigations—a case report publication-title: BMC Neurol. doi: 10.1186/s12883-019-1319-1 – volume: 20 start-page: 1334 year: 2018 end-page: 1345 ident: CR71 article-title: ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation publication-title: Genet. Med. doi: 10.1038/gim.2018.3 – volume: 91 start-page: 13 year: 2018 end-page: 22 ident: CR45 article-title: Gain of function mutation and inflammasome driven diseases in human and mouse models publication-title: J. Autoimmun. doi: 10.1016/j.jaut.2018.03.002 – volume: 116 start-page: 3766 year: 2010 end-page: 3769 ident: CR75 article-title: Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome publication-title: Blood doi: 10.1182/blood-2010-04-280313 – volume: 18 start-page: 1269 year: 2016 end-page: 1275 ident: CR61 article-title: CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel publication-title: Genet. Med. doi: 10.1038/gim.2016.44 – volume: 47 start-page: 180 year: 2015 end-page: 185 ident: CR53 article-title: Germline mutations in familial thrombocytopenia and hematologic malignancy publication-title: Nat. Genet. doi: 10.1038/ng.3177 – volume: 66 start-page: e27589 year: 2019 ident: CR24 article-title: Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel mutation publication-title: Pediatr. Blood Cancer doi: 10.1002/pbc.27589 – volume: 524 start-page: 225 year: 2015 end-page: 229 ident: CR43 article-title: Identification of -suppression of human disease mutations by comparative genomics publication-title: Nature doi: 10.1038/nature14497 – volume: 173 start-page: 371 year: 2018 end-page: 385 ident: CR50 article-title: Comprehensive characterization of cancer driver genes and mutations publication-title: Cell doi: 10.1016/j.cell.2018.02.060 – volume: 7 start-page: 248 year: 2010 end-page: 249 ident: CR64 article-title: A method and server for predicting damaging missense mutations publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 – volume: 10 year: 2019 ident: CR73 article-title: Impact of constitutional haploinsufficiency on molecular and clinical phenotype in humans publication-title: Nat. Commun. doi: 10.1038/s41467-019-09198-7 – ident: CR37 – volume: 555 start-page: 371 year: 2018 end-page: 376 ident: CR51 article-title: Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours publication-title: Nature doi: 10.1038/nature25795 – volume: 12 start-page: 745 year: 2011 end-page: 755 ident: CR38 article-title: Exome sequencing as a tool for Mendelian disease gene discovery publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3031 – volume: 122 start-page: 3616 year: 2013 end-page: 3627 ident: CR55 article-title: Clinical and biological implications of driver mutations in myelodysplastic syndromes publication-title: Blood doi: 10.1182/blood-2013-08-518886 – volume: 39 start-page: e118 year: 2011 ident: CR66 article-title: Predicting the functional impact of protein mutations: application to cancer genomics publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkr407 – volume: 37 start-page: 235 year: 2016 end-page: 241 ident: CR70 article-title: dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs publication-title: Hum. Mutat. doi: 10.1002/humu.22932 – volume: 503 start-page: 94 year: 2017 end-page: 102 ident: CR11 article-title: An interaction domain in human SAMD9 is essential for myxoma virus host-range determinant M062 antagonism of host anti-viral function publication-title: Virology doi: 10.1016/j.virol.2017.01.004 – volume: 48 start-page: 792 year: 2016 end-page: 797 ident: CR6 article-title: mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 publication-title: Nat. Genet. doi: 10.1038/ng.3569 – volume: 13 start-page: e0206184 year: 2018 ident: CR23 article-title: MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency publication-title: PLoS ONE doi: 10.1371/journal.pone.0206184 – volume: 34 start-page: 1450 year: 2020 end-page: 1453 ident: CR72 article-title: Familial myeloid malignancies with germline mutation publication-title: Leukemia doi: 10.1038/s41375-019-0675-6 – volume: 131 start-page: 717 year: 2018 end-page: 732 ident: CR32 article-title: A landscape of germ line mutations in a cohort of inherited bone marrow failure patients publication-title: Blood doi: 10.1182/blood-2017-09-806489 – ident: CR27 – volume: 8 year: 2017 ident: CR30 article-title: The genomic landscape of pediatric myelodysplastic syndromes publication-title: Nat. Commun. doi: 10.1038/s41467-017-01590-5 – volume: 17 start-page: 405 year: 2015 end-page: 424 ident: CR49 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet. Med. doi: 10.1038/gim.2015.30 – volume: 103 start-page: 427 year: 2018 end-page: 437 ident: CR33 article-title: Constitutional mutations cause familial myelodysplastic syndrome and transient monosomy 7 publication-title: Haematologica doi: 10.3324/haematol.2017.180778 – volume: 536 start-page: 285 year: 2016 end-page: 291 ident: CR67 article-title: Analysis of protein-coding genetic variation in 60,706 humans publication-title: Nature doi: 10.1038/nature19057 – volume: 31 start-page: 3812 year: 2003 end-page: 3814 ident: CR63 article-title: SIFT: predicting amino acid changes that affect protein function publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkg509 – volume: 19 start-page: 1105 year: 2017 end-page: 1117 ident: CR59 article-title: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria publication-title: Genet. Med. doi: 10.1038/gim.2017.37 – volume: 24 start-page: 305 year: 2013 end-page: 317 ident: CR5 article-title: Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7 publication-title: Cancer Cell doi: 10.1016/j.ccr.2013.08.011 – ident: CR48 – volume: 19 year: 2018 ident: CR21 article-title: A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing publication-title: BMC Med. Genet. doi: 10.1186/s12881-018-0546-4 – volume: 18 year: 2017 ident: CR69 article-title: GAVIN: Gene-Aware Variant INterpretation for medical sequencing publication-title: Genome Biol. doi: 10.1186/s13059-016-1141-7 – ident: CR17 – ident: CR31 – volume: 31 start-page: 1536 year: 2015 end-page: 1543 ident: CR60 article-title: An integrative approach to predicting the functional effects of non-coding and coding sequence variation publication-title: Bioinformatics doi: 10.1093/bioinformatics/btv009 – volume: 12 year: 2017 ident: CR13 article-title: The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis publication-title: Biol. Direct doi: 10.1186/s13062-017-0185-2 – volume: 54 start-page: 81 year: 2017 end-page: 86 ident: CR39 article-title: GATA2 deficiency and related myeloid neoplasms publication-title: Semin. Hematol. doi: 10.1053/j.seminhematol.2017.05.002 – volume: 555 start-page: 321 year: 2018 end-page: 327 ident: CR52 article-title: The landscape of genomic alterations across childhood cancers publication-title: Nature doi: 10.1038/nature25480 – volume: 99 start-page: 877 year: 2016 end-page: 885 ident: CR58 article-title: REVEL: an ensemble method for predicting the pathogenicity of rare missense variants publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.08.016 – volume: 46 start-page: 310-+ year: 2014 ident: CR68 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat. Genet. doi: 10.1038/ng.2892 – ident: CR34 – volume: 98 start-page: 1146 year: 2016 end-page: 1158 ident: CR16 article-title: Ataxia-pancytopenia syndrome is caused by missense mutations in publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.04.009 – ident: CR7 – volume: 13 start-page: 121 year: 2013 ident: CR1 article-title: Evolution and divergence of the mammalian / gene family publication-title: BMC Evol. Biol. doi: 10.1186/1471-2148-13-121 – volume: 38 start-page: e164 year: 2010 ident: CR57 article-title: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq603 – volume: 31 start-page: 1827 year: 2017 end-page: 1830 ident: CR18 article-title: Germline mutation in siblings with monosomy 7 and myelodysplastic syndrome publication-title: Leukemia doi: 10.1038/leu.2017.142 – volume: 55 start-page: 81 year: 2018 end-page: 85 ident: CR22 article-title: Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion mutations publication-title: J. Med. Genet doi: 10.1136/jmedgenet-2017-105020 – volume: 173 start-page: 371 year: 2018 ident: 1511_CR50 publication-title: Cell doi: 10.1016/j.cell.2018.02.060 – volume: 48 start-page: 792 year: 2016 ident: 1511_CR6 publication-title: Nat. Genet. doi: 10.1038/ng.3569 – volume: 176 start-page: 415 year: 2018 ident: 1511_CR20 publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.38557 – volume: 17 start-page: 405 year: 2015 ident: 1511_CR49 publication-title: Genet. Med. doi: 10.1038/gim.2015.30 – volume: 55 start-page: 81 year: 2018 ident: 1511_CR22 publication-title: J. Med. Genet doi: 10.1136/jmedgenet-2017-105020 – volume: 104 start-page: e318 year: 2019 ident: 1511_CR26 publication-title: Haematologica doi: 10.3324/haematol.2018.207316 – volume: 18 start-page: 1269 year: 2016 ident: 1511_CR61 publication-title: Genet. Med. doi: 10.1038/gim.2016.44 – ident: 1511_CR8 doi: 10.1084/jem.20201195 – volume: 103 start-page: 427 year: 2018 ident: 1511_CR33 publication-title: Haematologica doi: 10.3324/haematol.2017.180778 – volume: 21 start-page: 340 year: 2020 ident: 1511_CR35 publication-title: BMC Nephrol. doi: 10.1186/s12882-020-02011-4 – volume: 91 start-page: 13 year: 2018 ident: 1511_CR45 publication-title: J. Autoimmun. doi: 10.1016/j.jaut.2018.03.002 – ident: 1511_CR29 doi: 10.1172/JCI91913 – volume: 31 start-page: 1536 year: 2015 ident: 1511_CR60 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btv009 – volume: 34 start-page: 1450 year: 2020 ident: 1511_CR72 publication-title: Leukemia doi: 10.1038/s41375-019-0675-6 – volume: 112 start-page: 14858 year: 2015 ident: 1511_CR10 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1515354112 – volume: 98 start-page: 1146 year: 2016 ident: 1511_CR16 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.04.009 – volume: 116 start-page: 3766 year: 2010 ident: 1511_CR75 publication-title: Blood doi: 10.1182/blood-2010-04-280313 – volume: 66 start-page: e27589 year: 2019 ident: 1511_CR24 publication-title: Pediatr. Blood Cancer doi: 10.1002/pbc.27589 – volume: 13 start-page: 121 year: 2013 ident: 1511_CR1 publication-title: BMC Evol. Biol. doi: 10.1186/1471-2148-13-121 – volume: 376 start-page: 536 year: 2017 ident: 1511_CR54 publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa1611604 – volume: 20 start-page: 582 year: 2019 ident: 1511_CR40 publication-title: Nat. Rev. Genet. doi: 10.1038/s41576-019-0139-x – volume: 19 start-page: 1105 year: 2017 ident: 1511_CR59 publication-title: Genet. Med. doi: 10.1038/gim.2017.37 – volume: 19 year: 2018 ident: 1511_CR21 publication-title: BMC Med. Genet. doi: 10.1186/s12881-018-0546-4 – volume: 31 start-page: 761 year: 2015 ident: 1511_CR62 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btu703 – volume: 524 start-page: 225 year: 2015 ident: 1511_CR43 publication-title: Nature doi: 10.1038/nature14497 – volume: 8 year: 2007 ident: 1511_CR15 publication-title: BMC Genomics doi: 10.1186/1471-2164-8-92 – volume: 19 year: 2019 ident: 1511_CR25 publication-title: BMC Neurol. doi: 10.1186/s12883-019-1319-1 – volume: 177 start-page: 187 year: 2017 ident: 1511_CR19 publication-title: Eur. J. Endocrinol. doi: 10.1530/EJE-17-0027 – volume: 14 start-page: e1006884 year: 2018 ident: 1511_CR12 publication-title: PLoS Pathog. doi: 10.1371/journal.ppat.1006884 – ident: 1511_CR27 doi: 10.4274/jcrpe.galenos.2019.2019.0053 – volume: 24 start-page: 305 year: 2013 ident: 1511_CR5 publication-title: Cancer Cell doi: 10.1016/j.ccr.2013.08.011 – volume: 555 start-page: 371 year: 2018 ident: 1511_CR51 publication-title: Nature doi: 10.1038/nature25795 – volume: 47 start-page: 180 year: 2015 ident: 1511_CR53 publication-title: Nat. Genet. doi: 10.1038/ng.3177 – ident: 1511_CR46 doi: 10.1172/JCI140147 – volume: 131 start-page: 1428 year: 2011 ident: 1511_CR14 publication-title: J. Invest. Dermatol doi: 10.1038/jid.2011.61 – volume: 79 start-page: 759 year: 2006 ident: 1511_CR3 publication-title: Am. J. Hum. Genet. doi: 10.1086/508069 – volume: 18 year: 2017 ident: 1511_CR69 publication-title: Genome Biol. doi: 10.1186/s13059-016-1141-7 – volume: 536 start-page: 285 year: 2016 ident: 1511_CR67 publication-title: Nature doi: 10.1038/nature19057 – volume: 31 start-page: 3812 year: 2003 ident: 1511_CR63 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkg509 – volume: 39 start-page: e118 year: 2011 ident: 1511_CR66 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkr407 – volume: 131 start-page: 717 year: 2018 ident: 1511_CR32 publication-title: Blood doi: 10.1182/blood-2017-09-806489 – ident: 1511_CR34 – volume: 66 start-page: e27726 year: 2019 ident: 1511_CR28 publication-title: Pediatr. Blood Cancer doi: 10.1002/pbc.27726 – volume: 37 start-page: 235 year: 2016 ident: 1511_CR70 publication-title: Hum. Mutat. doi: 10.1002/humu.22932 – volume: 20 start-page: 1334 year: 2018 ident: 1511_CR71 publication-title: Genet. Med. doi: 10.1038/gim.2018.3 – volume: 13 start-page: e0206184 year: 2018 ident: 1511_CR23 publication-title: PLoS ONE doi: 10.1371/journal.pone.0206184 – volume: 99 start-page: 877 year: 2016 ident: 1511_CR58 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.08.016 – volume: 31 start-page: 759 year: 2017 ident: 1511_CR56 publication-title: Leukemia doi: 10.1038/leu.2016.342 – volume: 7 start-page: 575 year: 2010 ident: 1511_CR65 publication-title: Nat. Methods doi: 10.1038/nmeth0810-575 – ident: 1511_CR48 – volume: 122 start-page: 3616 year: 2013 ident: 1511_CR55 publication-title: Blood doi: 10.1182/blood-2013-08-518886 – volume: 555 start-page: 321 year: 2018 ident: 1511_CR52 publication-title: Nature doi: 10.1038/nature25480 – volume: 85 start-page: 3270 year: 2011 ident: 1511_CR9 publication-title: J. Virol. doi: 10.1128/JVI.02243-10 – volume: 25 start-page: 2186 year: 2019 ident: 1511_CR36 publication-title: Biol. Blood Marrow Transpl. doi: 10.1016/j.bbmt.2019.07.007 – volume: 50 start-page: 339 year: 2013 ident: 1511_CR41 publication-title: J. Med. Genet. doi: 10.1136/jmedgenet-2012-101477 – volume: 10 year: 2019 ident: 1511_CR73 publication-title: Nat. Commun. doi: 10.1038/s41467-019-09198-7 – volume: 33 start-page: 1773 year: 2019 ident: 1511_CR74 publication-title: Leukemia doi: 10.1038/s41375-019-0385-0 – volume: 38 start-page: e164 year: 2010 ident: 1511_CR57 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq603 – volume: 12 year: 2017 ident: 1511_CR13 publication-title: Biol. Direct doi: 10.1186/s13062-017-0185-2 – volume: 2 start-page: 120 year: 2018 ident: 1511_CR47 publication-title: Blood Adv. doi: 10.1182/bloodadvances.2017012682 – volume: 12 start-page: 745 year: 2011 ident: 1511_CR38 publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3031 – volume: 7 start-page: 248 year: 2010 ident: 1511_CR64 publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 – volume: 8 year: 2017 ident: 1511_CR30 publication-title: Nat. Commun. doi: 10.1038/s41467-017-01590-5 – ident: 1511_CR31 doi: 10.1172/jci.insight.121086 – volume: 503 start-page: 94 year: 2017 ident: 1511_CR11 publication-title: Virology doi: 10.1016/j.virol.2017.01.004 – volume: 46 start-page: 310-+ year: 2014 ident: 1511_CR68 publication-title: Nat. Genet. doi: 10.1038/ng.2892 – volume: 11 start-page: 945 year: 2016 ident: 1511_CR2 publication-title: Oncol. Lett. doi: 10.3892/ol.2015.4000 – volume: 343 start-page: 1 year: 2004 ident: 1511_CR44 publication-title: J. Mol. Biol. doi: 10.1016/j.jmb.2004.08.023 – volume: 89 start-page: 1925 year: 2015 ident: 1511_CR4 publication-title: J. Virol. doi: 10.1128/JVI.02262-14 – ident: 1511_CR7 doi: 10.1038/s41375-021-01212-6 – volume: 54 start-page: 81 year: 2017 ident: 1511_CR39 publication-title: Semin. Hematol. doi: 10.1053/j.seminhematol.2017.05.002 – volume: 31 start-page: 1827 year: 2017 ident: 1511_CR18 publication-title: Leukemia doi: 10.1038/leu.2017.142 – ident: 1511_CR17 doi: 10.1182/blood-2016-10-743302 – volume: 705 start-page: 96 year: 2010 ident: 1511_CR42 publication-title: Mutat. Res. doi: 10.1016/j.mrrev.2010.04.002 – ident: 1511_CR37 doi: 10.1111/bjh.17006 – reference: 34799732 - Nat Med. 2021 Dec;27(12):2248. doi: 10.1038/s41591-021-01632-y – reference: 38231353 - J Clin Immunol. 2024 Jan 17;44(2):43. doi: 10.1007/s10875-023-01650-0 |
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| Snippet | Germline
SAMD9
and
SAMD9L
mutations (
SAMD9/9L
mut
) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we... Germline SAMD9 and SAMD9L mutations (SAMD9/9L ) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we... Germline SAMD9 and SAMD9L mutations (SAMD9/9L.sup.mut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we... Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we... Germline SAMD9 and SAMD9L mutations ( SAMD9/9L mut ) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. Here, we investigated a... |
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| SubjectTerms | 631/208/212/2304 692/308/2056 Abnormalities Adolescent Analysis Biomedical and Life Sciences Biomedicine Bone marrow Bone Marrow Cells - metabolism Cancer and Oncology Cancer och onkologi Cancer Research Care and treatment CD34 antigen Cell death Child Child, Preschool Clinical Medicine Clonal Evolution - genetics Clonal Hematopoiesis - genetics Clustering Development and progression Diagnosis Disorders DNA sequencing Female GATA2 Transcription Factor - genetics Gene mutations Germ-Line Mutation - genetics Health aspects HEK293 Cells Hematologi Hematology Hematopoiesis High-Throughput Nucleotide Sequencing Humans Infant Infectious Diseases Intracellular Signaling Peptides and Proteins - genetics Kaplan-Meier Estimate Klinisk medicin Male Medical and Health Sciences Medicin och hälsovetenskap Metabolic Diseases Molecular Medicine Monosomy Mutation Myelodysplastic syndrome Myelodysplastic syndromes Myelodysplastic Syndromes - genetics Myelodysplastic Syndromes - pathology Neurosciences Observations Patients Pediatrics Phenotypes Single-Cell Analysis Tumor Suppressor Proteins - genetics |
| Title | Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes |
| URI | https://link.springer.com/article/10.1038/s41591-021-01511-6 https://www.ncbi.nlm.nih.gov/pubmed/34621053 https://www.proquest.com/docview/2581965879 https://www.proquest.com/docview/2580701240 https://pubmed.ncbi.nlm.nih.gov/PMC9330547 |
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