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Article

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

Nature genetics - 1 Nov 2008

Jeong Yongsu, Leskow Federico Coluccio, El-Jaick Kenia, Roessler Erich, Muenke Maximilian, Yocum Anastasia, Dubourg Christele, Li Xue, Geng Xin, Oliver Guillermo, Epstein Douglas J

Abstract excerpt

In humans, SHH haploinsufficiency results in holoprosencephaly (HPE), a defect in anterior midline formation. Despite the importance of maintaining SHH transcript levels above a critical threshold, we know little about the upstream regulators of SHH expression in the forebrain. Here we describe a rare nucleotide variant located 460 kb upstream of SHH in an individual with HPE that resulted in the loss of Shh...

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Identifiers

PMID: 18836447
DOI: 10.1038/ng.230
PMCID: PMC2648611

Genes

SHH

Provenance

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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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.PMID 18836447Read ↗

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