TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

doi:10.1681/ASN.2019040414

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Article

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Dec 2019

Kampf Lina L, Schneider Ronen, Gerstner Lea, Thünauer Roland, Chen Mengmeng, Helmstädter Martin, Amar Ali, Onuchic-Whitford Ana C, Loza Munarriz Reyner, Berdeli Afig, Müller Dominik, Schrezenmeier Eva, Budde Klemens, Mane Shrikant, Laricchia Kristen M, Rehm Heidi L, MacArthur Daniel G, Lifton Richard P, Walz Gerd, Römer Winfried, Bergmann Carsten, Hildebrandt Friedhelm, Hermle Tobias

Abstract excerpt

BACKGROUND: Mutations in about 50 genes have been identified as monogenic causes of nephrotic syndrome, a frequent cause of CKD. These genes delineated the pathogenetic pathways and rendered significant insight into podocyte biology. METHODS: We used whole-exome sequencing to identify novel monogenic causes of steroid-resistant nephrotic syndrome (SRNS). We analyzed the functional significance of an...

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PMID: 31732614
DOI: 10.1681/ASN.2019040414
PMCID: PMC6900796

Genes

TBC1D8B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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