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 a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.

BioMed research international - 1 Jan 2020

Tang Jian-Xia, Xiao Xiang-Shui, Wang Kai, Jin Jie-Yuan, Fan Liang-Liang, Xiang Rong

Abstract excerpt

BACKGROUND: Cleft lip with or without cleft palate (CL/P) is the most common facial birth defect, with a worldwide incidence of 1 in 700-1000 live births. CL/P can be divided into syndromic CL/P (SCL/P) and nonsyndromic CL/P (NSCL/P). Genetic factors are an important component to the etiology of NSCL/P. ARHGAP29, one of the NSCL/P disease-causing genes, mediates the cyclical regulation of small GTP binding...

Read the complete abstract on PubMed

Topics

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

Share to Cleft Lip
Share to Cleft Palate
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Gene Expression

Share to GTPase-Activating Proteins

Share to Heterozygote

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 33150183
DOI: 10.1155/2020/8790531
PMCID: PMC7603555

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 a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.PMID 33150183Read ↗

A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.Semantic proximity Read ↗

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).Semantic proximity Read ↗

Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.Semantic proximity Read ↗

Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and PalateSemantic proximity Read ↗

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.Semantic 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 ↗

Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.Semantic proximity Read ↗

Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family.Semantic proximity Read ↗

Exploration of Genetic Variants of Non-syndromic Cleft Lip with or without Palate and Underlying Mechanisms.Semantic proximity Read ↗

Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.Semantic proximity Read ↗

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts.Semantic proximity Read ↗

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