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

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.

European journal of human genetics : EJHG - 1 Mar 2023

Reis Linda M, Chassaing Nicolas, Bardakjian Tanya, Thompson Samuel, Schneider Adele, Semina Elena V

Abstract excerpt

ARHGAP35 has known roles in cell migration, invasion and division, neuronal morphogenesis, and gene/mRNA regulation; prior studies indicate a role in cancer in humans and in the developing eyes, neural tissue, and renal structures in mice. We identified damaging variants in ARHGAP35 in five individuals from four families affected with anophthalmia, microphthalmia, coloboma and/or anterior segment dysgenesis...

Read the complete abstract on PubMed

Topics

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

Share to Anophthalmos
Share to Coloboma
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

Share to Microphthalmos

Share to Phenotype

Share to Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 36450800
DOI: 10.1038/s41431-022-01246-z
PMCID: PMC9995503

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

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.PMID 36450800Read ↗

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.Semantic proximity Read ↗

The Molecular Basis of Human Anophthalmia and MicrophthalmiaSemantic proximity Read ↗

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.Semantic proximity Read ↗

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.Semantic proximity Read ↗

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1Semantic proximity Read ↗

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.Semantic proximity Read ↗

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.Semantic proximity Read ↗

A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.Semantic proximity Read ↗

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.Semantic proximity Read ↗

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damageSemantic proximity Read ↗

Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.Semantic proximity Read ↗

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.Semantic proximity Read ↗

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