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

RERE deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics - 12 May 2021

Kim Bum Jun, Zaveri Hitisha P, Kundert Peter N, Jordan Valerie K, Scott Tiana M, Carmichael Jenny, Scott Daryl A

Abstract excerpt

Deletions of chromosome 1p36 are the most common telomeric deletions in humans and are associated with an increased risk of orofacial clefting. Deletion/phenotype mapping, combined with data from human and mouse studies, suggests the existence of multiple 1p36 genes associated with orofacial clefting including SKI, PRDM16, PAX7 and GRHL3. The arginine-glutamic acid dipeptide (RE) repeats gene (RERE) is located in...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Lip

Share to Cleft Palate

Share to Embryonic Development

Share to Mesoderm

Share to Neural Crest

Share to Wnt1 Protein

Source

Identifiers

PMID: 33772547
DOI: 10.1093/hmg/ddab084

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RERE deficiency contributes to the development of orofacial clefts in humans and mice.PMID 33772547Read ↗

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.Semantic proximity Read ↗

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.Semantic proximity Read ↗

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.Semantic proximity Read ↗

Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defectsSemantic proximity Read ↗

Cumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus.Semantic proximity Read ↗

Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.Semantic proximity Read ↗

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.Semantic proximity Read ↗

Functional variants at 1p36.23 confer risk of schizophrenia through modulating RERE.Semantic proximity Read ↗

Estrogen-related receptor gamma is required for normal auditory innervation and is essential for hearingSemantic proximity Read ↗

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Semantic proximity Read ↗

Genotype-phenotype correlations in individuals with pathogenic RERE variants.Semantic proximity Read ↗

An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates.Semantic proximity Read ↗

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