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 and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.

Diagnostic pathology - 5 Jul 2017

Ajmal Muhammad, Mir Asif, Shoaib Muhammad, Malik Salman Akbar, Nasir Muhammad

Abstract excerpt

BACKGROUND: The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development. Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an aberrant negative regulation, leading to the development of achondroplasia-group disorders, including achondroplasia...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Pakistan

Share to Pedigree

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Signal Transduction

Share to Thanatophoric Dysplasia

Source

Open in PubMed Open full text

Identifiers

PMID: 28679403
DOI: 10.1186/s13000-017-0642-3
PMCID: PMC5499044

Genes

FGFR3

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 and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.PMID 28679403Read ↗

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.Semantic proximity Read ↗

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.Semantic proximity Read ↗

Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.Semantic proximity Read ↗

FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.Semantic proximity Read ↗

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.Semantic proximity Read ↗

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.Semantic proximity Read ↗

An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia.Semantic proximity Read ↗

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.Semantic proximity Read ↗

Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.Semantic proximity Read ↗

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

Severe phenotype of a heterozygous with variant on FGFR3 in the second trimester: a case reportSemantic proximity Read ↗

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