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

[Progress of research on Bardet-Biedl syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Zeng Peng, Shen Tao

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by ciliary structure abnormality or dysfunction. To date, more than 21 BBS genes (BBS1 - 21) have been reported to independently cause the disorder. Although the cellular functions of BBS proteins are not yet fully understood, model organisms have revealed that such proteins are involved in ciliary functions and intracellular transport. Among the 21 BBS...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Proteins
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bardet-Biedl Syndrome

Share to Cytoskeletal Proteins

Share to BBS1 gene

Source

Identifiers

PMID: 29653013
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.033

Genes

BBS7
BBS1

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Progress of research on Bardet-Biedl syndrome].PMID 29653013Read ↗

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)Semantic proximity Read ↗

Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.Semantic proximity Read ↗

Molecular and Phenotypic Characteristics of Bardet-Biedl Syndrome in Chinese PatientsSemantic proximity Read ↗

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Semantic proximity Read ↗

Bardet-Biedl syndrome: A rare genetic diseaseSemantic proximity Read ↗

Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.Semantic proximity Read ↗

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.Semantic proximity Read ↗

Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).Semantic proximity Read ↗

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.Semantic proximity Read ↗

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.Semantic proximity Read ↗

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.Semantic proximity Read ↗

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.Semantic proximity Read ↗

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