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

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2022

Millo Talya, Rivera Antonio, Obolensky Alexey, Marks-Ohana Devora, Xu Mingchu, Li Yumei, Wilhelm Enosh, Gopalakrishnan Prakadeeswari, Gross Menachem, Rosin Boris, Hanany Mor, Webster Andrew, Tracewska Anna Maria, Koenekoop Robert K, Chen Rui, Arno Gavin, Schueler-Furman Ora, Roosing Susanne, Banin Eyal, Sharon Dror

Abstract excerpt

PURPOSE: This study aimed to investigate the clinical and genetic aspects of solute carrier (SLC) genes in inherited retinal diseases (IRDs). METHODS: Exome sequencing data were filtered to identify pathogenic variants in SLC genes. Analysis of transcript and protein expression was performed on fibroblast cell lines and retinal sections. RESULTS: Comprehensive analysis of 433 SLC genes in 913 exome sequencing IRD...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genetic Association Studies

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 35486108
DOI: 10.1016/j.gim.2022.03.020

Genes

SLC24A1
SLC37A3
SLC39A12
SLC4A7
SLC66A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.PMID 35486108Read ↗

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.Semantic proximity Read ↗

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.Semantic proximity Read ↗

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read ↗

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.Semantic proximity Read ↗

Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani FamiliesSemantic proximity Read ↗

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Semantic proximity Read ↗

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.Semantic proximity Read ↗

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.Semantic proximity Read ↗

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.Semantic proximity Read ↗

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degenerationSemantic proximity Read ↗

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.Semantic proximity Read ↗

Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.Semantic proximity Read ↗

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