Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Elevated Coding Mutation Rate During the Reprogramming of Human Somatic Cells into Induced Pluripotent Stem Cells
Ji, Junfeng, Ng, Siemon H., Sharma, Vivek, Neculai, Dante, Hussein, Samer, Sam, Michelle, Trinh, Quang, Church, George M., Mcpherson, John D., Nagy, Andras, Batada, Nizar N.
Published in Stem cells (Dayton, Ohio) (01.03.2012)
Published in Stem cells (Dayton, Ohio) (01.03.2012)
Get full text
Journal Article
Properties of non-coding mutation hotspots as urinary biomarkers for bladder cancer detection
Baxter, L., Gordon, N. S., Ott, S., Wang, J., Patel, P., Goel, A., Piechocki, K., Silcock, L., Sale, C., Zeegers, M. P., Cheng, K. K., James, N. D., Bryan, R. T., Ward, D. G.
Published in Scientific reports (19.01.2023)
Published in Scientific reports (19.01.2023)
Get full text
Journal Article
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon
Vickrey, Anna I, Bruders, Rebecca, Kronenberg, Zev, Mackey, Emma, Bohlender, Ryan J, Maclary, Emily T, Maynez, Raquel, Osborne, Edward J, Johnson, Kevin P, Huff, Chad D, Yandell, Mark, Shapiro, Michael D
Published in eLife (17.07.2018)
Published in eLife (17.07.2018)
Get full text
Journal Article
Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
Van de Sompele, Stijn, Pécheux, Lucie, Couso, Jorge, Meunier, Audrey, Sanchez, Mayka, De Baere, Elfride
Published in Scientific reports (21.12.2017)
Published in Scientific reports (21.12.2017)
Get full text
Journal Article
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
Hartmannová, Hana, Piherová, Lenka, Tauchmannová, Kateřina, Kidd, Kendrah, Acott, Philip D., Crocker, John F. S., Oussedik, Youcef, Mallet, Marcel, Hodaňová, Kateřina, Stránecký, Viktor, Přistoupilová, Anna, Barešová, Veronika, Jedličková, Ivana, Živná, Martina, Sovová, Jana, Hůlková, Helena, Robins, Vicki, Vrbacký, Marek, Pecina, Petr, Kaplanová, Vilma, Houštěk, Josef, Mráček, Tomáš, Thibeault, Yves, Bleyer, Anthony J., Kmoch, Stanislav
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
Get full text
Journal Article
A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant
Morange, Pierre-Emmanuel, Peiretti, Franck, Gourhant, Lenaick, Proust, Carole, Soukarieh, Omar, Pulcrano-Nicolas, Anne-Sophie, Saripella, Ganapathi-Varma, Stefanucci, Luca, Lacroix, Romaric, Ibrahim-Kosta, Manal, Lemarié, Catherine A., Frontini, Mattia, Alessi, Marie-Christine, Trégouët, David-Alexandre, Couturaud, Francis
Published in PLoS genetics (19.01.2021)
Published in PLoS genetics (19.01.2021)
Get full text
Journal Article
A non-coding mutation in the 5′ untranslated region of patched homologue 1 predisposes to basal cell carcinoma
Tietze, Julia K., Pfob, Martina, Eggert, Marlene, von Preußen, Anna, Mehraein, Yasmin, Ruzicka, Thomas, Herzinger, Thomas
Published in Experimental dermatology (01.12.2013)
Published in Experimental dermatology (01.12.2013)
Get full text
Journal Article
MutSpot: detection of non-coding mutation hotspots in cancer genomes
Guo, Yu Amanda, Chang, Mei Mei, Skanderup, Anders Jacobsen
Published in Npj genomic medicine (05.06.2020)
Published in Npj genomic medicine (05.06.2020)
Get full text
Journal Article
Lack of FOXE3 coding mutation in a case of congenital aphakia
Sano, Yusuke, Matsukane, Yusuke, Watanabe, Akihisa, Sonoda, Ko-hei, Kondo, Hiroyuki
Published in Ophthalmic genetics (01.01.2018)
Published in Ophthalmic genetics (01.01.2018)
Get full text
Journal Article
Identification of novel coding mutation in C1qA gene in an African–American pedigree with lupus and C1q deficiency
Namjou, B, Keddache, M, Fletcher, D, Dillon, S, Kottyan, L, Wiley, G, Gaffney, PM, Wakeland, BE, Liang, C, Wakeland, EK, Scofield, RH, Kaufman, K, Harley, JB
Published in Lupus (01.09.2012)
Published in Lupus (01.09.2012)
Get full text
Journal Article
Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections
van Schaarenburg, Rosanne A., Daha, Nina A., Schonkeren, Joris J.M., Nivine Levarht, E.W., van Gijlswijk-Janssen, Danielle J., Kurreeman, Fina A.S., Roos, Anja, van Kooten, Cees, Koelman, Carin A., Ernst-Kruis, Margot R., Toes, Rene E.M., Huizinga, Tom W.J., Lankester, Arjan C., Trouw, Leendert A.
Published in Immunobiology (1979) (01.03.2015)
Published in Immunobiology (1979) (01.03.2015)
Get full text
Journal Article
MutSpot: detection of non-coding mutation hotspots in cancer genomes
Guo, Yu Amanda, Chang, Mei Mei, Skanderup, Anders Jacobsen
Published in Npj genomic medicine (05.06.2020)
Published in Npj genomic medicine (05.06.2020)
Get full text
Journal Article
Detection of a canine parvovirus type 2c with a non-coding mutation and its implications for molecular characterisation
Decaro, Nicola, Desario, Costantina, Amorisco, Francesca, Losurdo, Michele, Elia, Gabriella, Parisi, Antonio, Ventrella, Gianpiero, Martella, Vito, Buonavoglia, Canio
Published in The veterinary journal (1997) (01.06.2013)
Published in The veterinary journal (1997) (01.06.2013)
Get full text
Journal Article
Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease
Deng, Sheng, Deng, Xiong, Yuan, Lamei, Song, Zhi, Yang, Zhijian, Xiong, Wei, Deng, Hao
Published in Acta neurologica Belgica (01.09.2015)
Published in Acta neurologica Belgica (01.09.2015)
Get full text
Journal Article
Abstract 3576: Broad analysis of recurrent somatic mutations in cancer reveals a common novel non-coding mutation in the promoter of PMS2 associated with greatly increased tumor mutation load
Chalmers, Zachary R., Huang, Franklin W., Gay, Laurie M., Ali, Siraj M., Yelensky, Roman, Chmielecki, Juliann, Ross, Jeffery S., Miller, Vincent A., Stephens, Philip J., Garraway, Levi A., Frampton, Garrett M.
Published in Cancer research (Chicago, Ill.) (15.07.2016)
Published in Cancer research (Chicago, Ill.) (15.07.2016)
Get full text
Journal Article
Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder
Long, Hannah K., Osterwalder, Marco, Welsh, Ian C., Hansen, Karissa, Davies, James O.J., Liu, Yiran E., Koska, Mervenaz, Adams, Alexander T., Aho, Robert, Arora, Neha, Ikeda, Kazuya, Williams, Ruth M., Sauka-Spengler, Tatjana, Porteus, Matthew H., Mohun, Tim, Dickel, Diane E., Swigut, Tomek, Hughes, Jim R., Higgs, Douglas R., Visel, Axel, Selleri, Licia, Wysocka, Joanna
Published in Cell stem cell (05.11.2020)
Published in Cell stem cell (05.11.2020)
Get full text
Journal Article
X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.231A>G (A Retrospective Case–Control Study)
Smith, Pamela S, Gottesman, Gary S, Zhang, Fan, Cook, Fiona, Ramirez, Beatriz, Wenkert, Deborah, Wollberg, Valerie, Huskey, Margaret, Mumm, Steven, Whyte, Michael P
Published in Journal of bone and mineral research (01.05.2020)
Published in Journal of bone and mineral research (01.05.2020)
Get full text
Journal Article
A novel non-coding mutation in C1q that causes C1q deficiency associated with recurrent infections
Trouw, Leendert, Schonkeren, Joris, Daha, Nina, Levarht, Nivine, Roos, Anja, Ernst-Kruis, Margot, Huizinga, Tom, Lankester, Arjan, Toes, Rene
Published in Immunobiology (1979) (01.11.2012)
Published in Immunobiology (1979) (01.11.2012)
Get full text
Journal Article