Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

INTRODUCTION: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a “podocytopathy.” METHODS: We performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients. RESULTS:...

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Pubblicato in:Kidney Int Rep
Autori principali: Mao, Youying, Schneider, Ronen, van der Ven, Peter F.M., Assent, Marvin, Lohanadan, Keerthika, Klämbt, Verena, Buerger, Florian, Kitzler, Thomas M., Deutsch, Konstantin, Nakayama, Makiko, Majmundar, Amar J., Mann, Nina, Hermle, Tobias, Onuchic-Whitford, Ana C., Zhou, Wei, Margam, Nandini Nagarajan, Duncan, Roy, Marquez, Jonathan, Khokha, Mustafa, Fathy, Hanan M., Kari, Jameela A., El Desoky, Sherif, Eid, Loai A., Awad, Hazem Subhi, Al-Saffar, Muna, Mane, Shrikant, Lifton, Richard P., Fürst, Dieter O., Shril, Shirlee, Hildebrandt, Friedhelm
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
Soggetti:
Translational Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7879128/
https://ncbi.nlm.nih.gov/pubmed/33615072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ekir.2020.10.040
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