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Article

Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.

Human molecular genetics - 1 Aug 2017

Li Jianshuang, Lu Di, Liu Huadie, Williams Bart O, Overbeek Paul A, Lee Brendan, Zheng Ling, Yang Tao

Abstract excerpt

Ciliopathies form a group of inherited disorders sharing several clinical manifestations because of abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. Sodium channel and clathrin linker 1 (SCLT1) mutations were associated with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28486600
DOI: 10.1093/hmg/ddx183

Genes

STAT3
SCLT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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