Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children progress to renal failure. The discovery of monogenic causes o...

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Veröffentlicht in:	Journal of the American Society of Nephrology 2021-03, Vol.32 (3), p.580-596
Hauptverfasser:	Mann, Nina, Mzoughi, Slim, Schneider, Ronen, Kühl, Susanne J, Schanze, Denny, Klämbt, Verena, Lovric, Svjetlana, Mao, Youying, Shi, Shasha, Tan, Weizhen, Kühl, Michael, Onuchic-Whitford, Ana C, Treimer, Ernestine, Kitzler, Thomas M, Kause, Franziska, Schumann, Sven, Nakayama, Makiko, Buerger, Florian, Shril, Shirlee, van der Ven, Amelie T, Majmundar, Amar J, Holton, Kristina Marie, Kolb, Amy, Braun, Daniela A, Rao, Jia, Jobst-Schwan, Tilman, Mildenberger, Eva, Lennert, Thomas, Kuechler, Alma, Wieczorek, Dagmar, Gross, Oliver, Ermisch-Omran, Beate, Werberger, Anja, Skalej, Martin, Janecke, Andreas R, Soliman, Neveen A, Mane, Shrikant M, Lifton, Richard P, Kadlec, Jan, Guccione, Ernesto, Schmeisser, Michael J, Zenker, Martin, Hildebrandt, Friedhelm
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino Acid Substitution Animals Basic Research Cell Line Child, Preschool DNA-Binding Proteins - chemistry DNA-Binding Proteins - deficiency DNA-Binding Proteins - genetics Female Gene Expression Regulation, Developmental Gene Knockdown Techniques Gene Knockout Techniques Hernia, Hiatal - genetics High-Throughput Nucleotide Sequencing Humans Infant Infant, Newborn Life Sciences Male Microcephaly - genetics Models, Molecular Mutation, Missense Nephrosis - genetics Nephrotic Syndrome - genetics Podocytes - metabolism Polymorphism, Single Nucleotide Pronephros - embryology Pronephros - metabolism Protein Stability Transcription Factors - chemistry Transcription Factors - deficiency Transcription Factors - genetics Xenopus laevis - embryology Xenopus laevis - genetics Zinc Fingers - genetics
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