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

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

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2022

Gupta Neha, D'Acierno Mariavittoria, Zona Enrica, Capasso Giovambattista, Zacchia Miriam

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries. It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membrane protein composition. Less information is...

Read the complete abstract on PubMed

Topics

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

Share to Bardet-Biedl Syndrome
Share to Chaperonins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35373910
DOI: 10.1002/ajmg.c.31970
PMCID: PMC9325507

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

Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.PMID 35373910Read ↗

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

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

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

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.Semantic proximity Read ↗

Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.Semantic proximity Read ↗

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.Semantic proximity Read ↗

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

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

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

Bardet-Biedl syndrome: Is it only cilia dysfunction?Semantic proximity Read ↗

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