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

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

American journal of human genetics - 1 Feb 2018

Bozal-Basterra Laura, Martín-Ruíz Itziar, Pirone Lucia, Liang Yinwen, Sigurðsson Jón Otti, Gonzalez-Santamarta Maria, Giordano Immacolata, Gabicagogeascoa Estibaliz, de Luca Angela, Rodríguez Jose A, Wilkie Andrew O M, Kohlhase Jürgen, Eastwood Deborah, Yale Christopher, Olsen Jesper V, Rauchman Michael, Anderson Kathryn V, Sutherland James D, Barrio Rosa

Abstract excerpt

Townes-Brocks syndrome (TBS) is characterized by a spectrum of malformations in the digits, ears, and kidneys. These anomalies overlap those seen in a growing number of ciliopathies, which are genetic syndromes linked to defects in the formation or function of the primary cilia. TBS is caused by mutations in the gene encoding the transcriptional repressor SALL1 and is associated with the presence of a truncated...

Read the complete abstract on PubMed

Topics

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

Share to Anus, Imperforate
Share to Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoplasm

Share to Embryo, Mammalian

Share to Hearing Loss, Sensorineural

Share to Hedgehog Proteins

Share to Proteomics

Source

Open in PubMed Open full text

Identifiers

PMID: 29395072
DOI: 10.1016/j.ajhg.2017.12.017
PMCID: PMC5985538

Genes

SALL1
SHH
CEP97

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.PMID 29395072Read ↗

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 ↗

Mutations in CSPP1 lead to classical Joubert syndrome.Semantic proximity Read ↗

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.Semantic proximity Read ↗

Unmasking the ciliopathies: craniofacial defects and the primary cilium.Semantic proximity Read ↗

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.Semantic proximity Read ↗

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

Intrinsic Heterogeneity of Primary Cilia Revealed Through Spatial ProteomicsSemantic 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 LossSemantic 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 ↗

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.Semantic proximity Read ↗

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

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

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