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 novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.

BMC medical genomics - 18 Jan 2023

Xu Wei, Xu Ming, Yin Qinqin, Liu Chuangyi, Cao Qiuxiang, Deng Yun, Liu Sulai, He Guiyun

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is the most common type of inherited retinopathy. At least 69 genes for RP have been identified. A significant proportion of RP, however, remains genetically unsolved. In this study, the genetic basis of a Chinese consanguineous family with presumed autosomal recessive retinitis pigmentosa (arRP) was investigated. METHODS: Overall ophthalmic examinations, including...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genes, Recessive

Share to Mutation, Missense

Share to Pedigree

Share to Phylogeny

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 36650547
DOI: 10.1186/s12920-023-01430-0
PMCID: PMC9847046

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.PMID 36650547Read ↗

A novel homozygous Tub mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese familySemantic proximity Read ↗

Novel Homozygous <i>TULP1</i> and <i>RPE65</i> Variants Underlies Recessive Retinitis PigmentosaSemantic proximity Read ↗

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Semantic proximity Read ↗

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.Semantic proximity Read ↗

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.Semantic proximity Read ↗

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.Semantic proximity Read ↗

A novel homozygous missense mutation p.P388S in <i>TULP1</i> causes protein instability and retinitis pigmentosaSemantic proximity Read ↗

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.Semantic proximity Read ↗

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.Semantic proximity Read ↗

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.Semantic proximity Read ↗

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.Semantic proximity Read ↗

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