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Article

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

Human molecular genetics - 1 Aug 2001

Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin A V, Walter M A, Héon E

Abstract excerpt

The specific role of PITX2 in the pathogenesis of anterior segment dysgenesis has yet to be clearly defined. We provide here new insight into PITX2 pathogenesis through mutational and functional analyses. Three PITX2 mutations were found in a screen of 38 unrelated individuals affected with anter...

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Source

Identifiers

PMID: 11487566
DOI: 10.1093/hmg/10.16.1631

Genes

PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11487566-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.PMID 11487566Read ↗

Analysis of Mutations of the<i>PITX2</i>Transcription Factor Found in Patients with Axenfeld-Rieger SyndromeSemantic proximity Read ↗

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.Semantic proximity Read ↗

The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.Semantic proximity Read ↗

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Identification of a dominant negative homeodomain mutation in Rieger syndrome.Semantic proximity Read ↗

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating<i>PITX2</i>from a conserved enhancer locusSemantic proximity Read ↗

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.Semantic proximity Read ↗

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.Semantic proximity Read ↗

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