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Article

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Human molecular genetics - 15 Aug 2012

Prasov Lev, Masud Tehmina, Khaliq Shagufta, Mehdi S Qasim, Abid Aiysha, Oliver Edward R, Silva Eduardo D, Lewanda Amy, Brodsky Michael C, Borchert Mark, Kelberman Daniel, Sowden Jane C, Dattani Mehul T, Glaser Tom

Abstract excerpt

The vertebrate basic helix-loop-helix (bHLH) transcription factor ATOH7 (Math5) is specifically expressed in the embryonic neural retina and is required for the genesis of retinal ganglion cells (RGCs) and optic nerves. In Atoh7 mutant mice, the absence of trophic factors secreted by RGCs prevents the development of the intrinsic retinal vasculature and the regression of fetal blood vessels, causing persistent...

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Source

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Identifiers

PMID: 22645276
DOI: 10.1093/hmg/dds197
PMCID: PMC3406761

Genes

ATOH7
CNTN4
OTX2

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.

Related research

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ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.PMID 22645276Read ↗

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Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Semantic proximity Read ↗

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.Semantic proximity Read ↗

The Atoh7 remote enhancer provides transcriptional robustness during retinal ganglion cell developmentSemantic proximity Read ↗

Transcriptome analysis of the zebrafish <i>atoh7−/−</i> mutant, <i>lakritz</i> , highlights Atoh7-dependent genetic networks with potential implications for human eye diseasesSemantic proximity Read ↗

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Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.Semantic proximity Read ↗

Single cell transcriptomics reveals lineage trajectory of retinal ganglion cells in wild-type and Atoh7-null retinasSemantic proximity Read ↗

Single cell transcriptomic analyses reveal the impact of bHLH factors ATOH7 and Neurog2 on human retinal organoid developmentSemantic proximity Read ↗

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