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

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

Molecular vision - 1 Jan 2012

Kannabiran Chitra, Singh Hardeep, Sahini Nishika, Jalali Subhadra, Mohan Gayathri

Abstract excerpt

PURPOSE: To identify genes underlying autosomal recessive retinitis pigmentosa (ARRP) by homozygosity mapping. METHODS: Families with ARRP were recruited after complete ophthalmic evaluation of all members and diagnosis of RP by predefined criteria. Genomic DNA from affected members of 26 families was genotyped on Illumina single nucleotide polymorphism (SNP) 6.0 K arrays with standard procedures. Genotypes were...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Eye Proteins
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Oligonucleotide Array Sequence Analysis

Share to Orphan Nuclear Receptors

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 22605927
PMCID: PMC3351411

Genes

MFRP
TULP1

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

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.PMID 22605927Read ↗

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Semantic proximity Read ↗

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

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.Semantic proximity Read ↗

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.Semantic proximity Read ↗

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

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

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.Semantic proximity Read ↗

Update on the molecular genetics of 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 ↗

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variantsSemantic proximity Read ↗

Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.Semantic proximity Read ↗

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.Semantic proximity Read ↗

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