Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

Human molecular genetics - 15 Oct 2004

Albrecht Andrea N, Kornak Uwe, Böddrich Annett, Süring Kathrin, Robinson Peter N, Stiege Asita C, Lurz Rudi, Stricker Sigmar, Wanker Erich E, Mundlos Stefan

Abstract excerpt

Poly-alanine (Ala) tract expansions in transcription factors have been shown to be associated with human birth defects such as malformations of the brain, the digits, and other structures. Expansions of a poly-Ala tract from 15 to 22 (+7)-29 (+14) Ala in Hoxd13, for example, result in the limb malformation synpolydactyly in humans and in mice [synpolydactyly homolog (spdh)]. Here, we show that an increase of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Core Binding Factor Alpha 1 Subunit
Share to DNA Repeat Expansion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High Mobility Group Proteins

Share to HSP40 Heat-Shock Proteins

Share to HSP70 Heat-Shock Proteins

Share to Polydactyly

Share to Repetitive Sequences, Amino Acid

Share to SOXB1 Transcription Factors

Source

Identifiers

PMID: 15333588
DOI: 10.1093/hmg/ddh277

Genes

HOXA13
RUNX2
SOX3

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.PMID 15333588Read ↗

Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.Semantic proximity Read ↗

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?Semantic proximity Read ↗

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse modelSemantic proximity Read ↗

The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.Semantic proximity Read ↗

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractSemantic proximity Read ↗

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Semantic proximity Read ↗

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.Semantic proximity Read ↗

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.Semantic proximity Read ↗

Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.Semantic proximity Read ↗

A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.Semantic proximity Read ↗

Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.Semantic proximity Read ↗

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.