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

PDGFRa mutations in humans with isolated cleft palate.

European journal of human genetics : EJHG - 1 Oct 2012

Rattanasopha Sawitree, Tongkobpetch Siraprapa, Srichomthong Chalurmpon, Siriwan Pichit, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Isolated cleft palate (CP) is common in humans and has complex genetic etiologies. Many genes have been found to contribute to CP, but the full spectrum of genes remains unknown. PCR-sequencing of the entire coding regions and the 3' untranslated region (UTR) of the platelet-derived growth factor receptor alpha (PDGFRa) and the microRNA (miR), miR-140 identified seven novel single base-pair substitutions in the...

Read the complete abstract on PubMed

Topics

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

Share to Receptor, Platelet-Derived Growth Factor alpha
Share to 3' Untranslated Regions

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cleft Palate

Share to DNA Mutational Analysis

Share to MicroRNAs

Share to Mutation, Missense

Share to Open Reading Frames

Share to Transcription, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 22473090
DOI: 10.1038/ejhg.2012.55
PMCID: PMC3449079

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PDGFRa mutations in humans with isolated cleft palate.PMID 22473090Read ↗

The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.Semantic proximity Read ↗

Identification of a novel mutation of Platelet-Derived Growth Factor-C (PDGFC) gene in a girl with Non-Syndromic cleft lip and palate.Semantic proximity Read ↗

PDGF receptor mutations in human diseases.Semantic proximity Read ↗

Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.Semantic proximity Read ↗

Genetic analysis of non-syndromic familial multiple supernumerary premolars.Semantic proximity Read ↗

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.Semantic proximity Read ↗

Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.Semantic proximity Read ↗

Germline PDGFRB p.R987W pathogenic variant in two children with brain tumorsSemantic proximity Read ↗

Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.Semantic proximity Read ↗

A novel VEGFA mutation as a candidate for causing non-syndromic cleft lip and/or cleft palate.Semantic proximity Read ↗

A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling.Semantic proximity Read ↗

PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children.Semantic proximity Read ↗

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