A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.

doi:10.1016/j.kint.2018.02.025

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Article

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.

Kidney international - 1 Aug 2018

Sato Yoshinori, Tsukaguchi Hiroyasu, Morita Hiroyuki, Higasa Koichiro, Tran Mai Thi Nhu, Hamada Michito, Usui Toshiaki, Morito Naoki, Horita Shoichiro, Hayashi Takao, Takagi Junko, Yamaguchi Izumi, Nguyen Huan Thanh, Harada Masayo, Inui Kiyoko, Maruta Yuichi, Inoue Yoshihiko, Koiwa Fumihiko, Sato Hiroshi, Matsuda Fumihiko, Ayabe Shinya, Mizuno Seiya, Sugiyama Fumihiro, Takahashi Satoru, Yoshimura Ashio

Abstract excerpt

Focal segmental glomerulosclerosis (FSGS) is a leading cause of end-stage renal disease in children and adults. Genetic factors significantly contribute to early-onset FSGS, but the etiologies of most adult cases remain unknown. Genetic studies of monogenic syndromic FSGS exhibiting extra-renal manifestations have uncovered an unexpected biological role for genes in the development of both podocytes and other...

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Identifiers

PMID: 29779709
DOI: 10.1016/j.kint.2018.02.025

Genes

MAFB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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