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Article

Point mutations in GLI3 lead to misregulation of its subcellular localization.

PloS one - 15 Oct 2009

Krauss Sybille, So Joyce, Hambrock Melanie, Köhler Andrea, Kunath Melanie, Scharff Constance, Wessling Martina, Grzeschik Karl-Heinz, Schneider Rainer, Schweiger Susann

Abstract excerpt

BACKGROUND: Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrome (PHS). Mutations that lead to loss of function of the protein and to haploinsufficiency cause GCPS, while truncating mutations that result in constitutive...

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Identifiers

PMID: 19829694
DOI: 10.1371/journal.pone.0007471
PMCID: PMC2758996

Genes

GLI3
MID1
SHH

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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Point mutations in GLI3 lead to misregulation of its subcellular localization.PMID 19829694Read ↗

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Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.Semantic proximity Read ↗

New insights into genotype-phenotype correlation for GLI3 mutations.Semantic proximity Read ↗

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Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlationsSemantic proximity Read ↗

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