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

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.

Journal of bone and mineral metabolism - 1 Mar 2011

Yuan Ping, Yue Zhihui, Sun Liangzhong, Huang Weijun, Hu Bin, Yang Zhiyun, Hu Yuelin, Xiao Hua, Shi Hui, Zhou Qing, Wang Yiming

Abstract excerpt

Infantile malignant osteopetrosis (IMO) (OMIM 259700) is a lethal autosomal recessive disease. The underlying gene in most IMO patients is TCIRG1. This codes for the TCIRG1 protein involved in the cellular proton pump, which is highly expressed on surfaces of osteoclasts. We have characterized a...

Read the complete abstract on PubMed

Topics

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

Share to Infant, Newborn
Share to Mutation
Share to Osteopetrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 21042819
DOI: 10.1007/s00774-010-0228-6

Genes

TCIRG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21042819-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.PMID 21042819Read ↗

Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.Semantic proximity Read ↗

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.Semantic proximity Read ↗

[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].Semantic proximity Read ↗

[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].Semantic proximity Read ↗

Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene.Semantic proximity Read ↗

Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.Semantic proximity Read ↗

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.Semantic proximity Read ↗

Malignant Infantile osteopetrosis.Semantic proximity Read ↗

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.Semantic proximity Read ↗

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.Semantic proximity Read ↗

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.Semantic proximity Read ↗

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Semantic proximity Read ↗

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