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Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
Otto, Edgar A, Helou, Juliana, Allen, Susan J, O'Toole, John F, Wise, Eric L, Ashraf, Shazia, Attanasio, Massimo, Zhou, Weibin, Wolf, Matthias T.F, Hildebrandt, Friedhelm
Published in Human mutation (01.03.2008)
Published in Human mutation (01.03.2008)
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Journal Article
Nephronophthisis
Wolf, Matthias T. F., Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.02.2011)
Published in Pediatric nephrology (Berlin, West) (01.02.2011)
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Journal Article
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, André, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B.
Published in Scientific reports (08.03.2018)
Published in Scientific reports (08.03.2018)
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Journal Article
Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD
Beck, Bodo B., Trachtman, Howard, Gitman, Michael, Miller, Ilene, Sayer, John A., Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm, Wolf, Matthias T.F.
Published in American journal of kidney diseases (01.11.2011)
Published in American journal of kidney diseases (01.11.2011)
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Journal Article
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T.F., Schuermann, Maria J., Becker, Achim, Birkenhäger, Ralf, Sudbrak, Ralf, Hennies, Hans C., Nürnberg, Peter, Hildebrandt, Friedhelm
Published in American journal of human genetics (01.11.2002)
Published in American journal of human genetics (01.11.2002)
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Journal Article
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
Wolf, Matthias T.F., Mucha, Bettina E., Attanasio, Massimo, Zalewski, Isabella, Karle, Stephanie M., Neumann, Hartmut P.H., Rahman, Nazneen, Bader, Birgit, Baldamus, Conrad A., Otto, Edgar, Witzgall, Ralph, Fuchshuber, Arno, Hildebrandt, Friedhelm
Published in Kidney international (01.11.2003)
Published in Kidney international (01.11.2003)
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Journal Article
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)
Wolf, Matthias T. F., Hoskins, Bethan E., Beck, Bodo B., Hoppe, Bernd, Tasic, Velibor, Otto, Edgar A., Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.01.2009)
Published in Pediatric nephrology (Berlin, West) (01.01.2009)
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Journal Article
Nephronophthisis: a pathological and genetic perspective
Wolf, Matthias T. F., Bonsib, Stephen M., Larsen, Christopher P., Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.07.2024)
Published in Pediatric nephrology (Berlin, West) (01.07.2024)
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Journal Article
Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)
Nie, Mingzhu, Bal, Manjot S., Liu, Jie, Yang, Zhufeng, Rivera, Carolina, Wu, Xue-Ru, Hoenderop, Joost G.J., Bindels, René J.M., Marciano, Denise K., Wolf, Matthias T.F.
Published in The Journal of biological chemistry (19.10.2018)
Published in The Journal of biological chemistry (19.10.2018)
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Journal Article
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency
Wood, William D., Elmaghrabi, Ayah, Gotway, Garrett, Wolf, Matthias T. F.
Published in Pediatric nephrology (Berlin, West) (01.06.2022)
Published in Pediatric nephrology (Berlin, West) (01.06.2022)
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Journal Article
Telomeric refinement of the MCKD1 locuson chromosome 1q21
Wolf, Matthias T.F., Van Vlem, Bruno, Hennies, Hans C., Zalewski, Isabella, Karle, Stephanie M., Puetz, Markus, Panther, Franziska, Otto, Edgar, Fuchshuber, Arno, Lameire, Norbert, Loeys, Bart, Hildebrandt, Friedhelm
Published in Kidney international (01.08.2004)
Published in Kidney international (01.08.2004)
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Journal Article
Early therapy with sirolimus reduces size of a large solid renal mass but not seizure activity in an infant with tuberous sclerosis
Hani, Salar Bani, Artunduaga, Maddy, Ludwig, Kathleen, Bissler, John J., Wolf, Matthias T. F.
Published in Journal of nephrology (01.01.2024)
Published in Journal of nephrology (01.01.2024)
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Journal Article
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients
Nie, Mingzhu, Bal, Manjot S., Yang, Zhufeng, Liu, Jie, Rivera, Carolina, Wenzel, Andrea, Beck, Bodo B., Sakhaee, Khashayar, Marciano, Denise K., Wolf, Matthias T.F.
Published in Journal of the American Society of Nephrology (01.11.2016)
Published in Journal of the American Society of Nephrology (01.11.2016)
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Journal Article
Klotho Up-regulates Renal Calcium Channel Transient Receptor Potential Vanilloid 5 (TRPV5) by Intra- and Extracellular N-glycosylation-dependent Mechanisms
Wolf, Matthias T.F., An, Sung-Wan, Nie, Mingzhu, Bal, Manjot S., Huang, Chou-Long
Published in The Journal of biological chemistry (26.12.2014)
Published in The Journal of biological chemistry (26.12.2014)
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Journal Article
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
Živná, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Kateřina, Sovová, Jana, Hartmannová, Hana, Votruba, Miroslav, Trešlová, Helena, Jedličková, Ivana, Sikora, Jakub, Hůlková, Helena, Robins, Victoria, Hnízda, Aleš, Živný, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kálmán, Häeffner, Karsten, Wolf, Matthias T.F., Bleyer, Michael E., Sayer, John A., Ong, Albert C.M., Balogh, Lídia, Jakubowska, Anna, Łaszkiewicz, Agnieszka, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio, Scolari, Francesco, Sussman, Amy, Trachtman, Howard, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Published in Kidney international (01.12.2020)
Published in Kidney international (01.12.2020)
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Journal Article
Chemical Synthesis and Antifibrotic Properties of (±)-Cochlearol T, (±)-Ganocochlearin A, and (±)-Cochlearol Y
Kakde, Badrinath N., An, Sung Wan, Jebaraj, Yaashmin Shiny, Neelam, Sudha, Wolf, Matthias T. F., Tambar, Uttam K.
Published in ACS medicinal chemistry letters (12.12.2024)
Published in ACS medicinal chemistry letters (12.12.2024)
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Journal Article
Ten novel mutations found in aniridia
Wolf, Matthias T. F., Lorenz, B, Winterpacht, A, Drechsler, M, Schumacher, V, Royer-Pokora, B, Blankenagel, A, Zabel, B, Wildhardt, G
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
Ghrelin enhances tubular magnesium absorption in the kidney
Nie, Mingzhu, Zhang, Jing, Bal, Manjot, Duran, Claudia, An, Sung Wan, Zigman, Jeffrey M., Baum, Michel, Hiremath, Chitkale, Marciano, Denise K., Wolf, Matthias T. F.
Published in Frontiers in physiology (04.04.2024)
Published in Frontiers in physiology (04.04.2024)
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Journal Article