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Article

Human germline hedgehog pathway mutations predispose to fatty liver.

Journal of hepatology - 1 Oct 2017

Guillen-Sacoto Maria J, Martinez Ariel F, Abe Yu, Kruszka Paul, Weiss Karin, Everson Joshua L, Bataller Ramon, Kleiner David E, Ward Jerrold M, Sulik Kathleen K, Lipinski Robert J, Solomon Benjamin D, Muenke Maximilian

Abstract excerpt

BACKGROUND & AIMS: Non-alcoholic fatty liver disease (NAFLD) is the most common form of liver disease. Activation of hedgehog (Hh) signaling has been implicated in the progression of NAFLD and proposed as a therapeutic target; however, the effects of Hh signaling inhibition have not been studied in humans with germline mutations that affect this pathway. METHODS: Patients with holoprosencephaly (HPE), a disorder...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28645738
DOI: 10.1016/j.jhep.2017.06.008
PMCID: PMC5613974

Genes

SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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