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

SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.

Human mutation - 1 Sept 2008

Kiefer Susan M, Robbins Lynn, Barina Andrew, Zhang Zhihong, Rauchman Michael

Abstract excerpt

Mutations in SALL1 lead to the dominant multiorgan congenital anomalies that define Townes-Brocks syndrome (TBS). The majority of these mutations result in premature termination codons that would be predicted to trigger nonsense-mediated decay (NMD) of mutant mRNA and cause haploinsufficiency. Ou...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Atrial Natriuretic Factor
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Limb Deformities, Congenital

Share to Protein Precursors

Share to RNA Stability

Share to Transcriptional Activation

Source

Identifiers

PMID: 18470945
DOI: 10.1002/humu.20759

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18470945-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.PMID 18470945Read ↗

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.Semantic proximity Read ↗

Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.Semantic proximity Read ↗

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.Semantic proximity Read ↗

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.Semantic proximity Read ↗

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.Semantic proximity Read ↗

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.Semantic proximity Read ↗

SALL1 mutations in Townes-Brocks syndrome and related disorders.Semantic proximity Read ↗

A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.Semantic proximity Read ↗

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.Semantic proximity Read ↗

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.Semantic proximity Read ↗

Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin.Semantic proximity Read ↗

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.Semantic proximity Read ↗

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