Skip to search formSkip to main contentSkip to account menu

TCIRG1 gene

Known as: TCIRG1, OC116, ATP6V0A3 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy
Infantile malignant osteopetrosis (IMO) is a rare, recessive disorder characterized by increased bone mass caused by… 
2015
2015
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes… 
2014
2014
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†
Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of… 
2014
2014
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical heterogeneity, and is caused by defective… 
2013
2013
A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation
Abstract Osteopetrosis is a rare genetic disorder characterized by increased bone mineral density (BMD) due to osteoclast failure… 
2006
2006
TIRC7 is induced in rejected human kidneys and anti-TIRC7 mAb with FK506 prolongs survival of kidney allografts in rats.
2004
2004
In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects
We studied osteoclastic differentiation from normal and osteopetrotic human CD14 cells in vitro. Defects in acid transport… 
2004
2004
Monoclonal Antibody Specific for TIRC7 Induces Donor‐specific Anergy and Prevents Rejection of Cardiac Allografts in Mice
T cell immune response c‐DNA (TIRC7) is up‐regulated during the early stages of T‐cell activation in response to alloantigens. In… 
2003
2003
OC116: Venous Doppler in the prediction of acid base status at birth—which vessel, which parameter?
Objective: Was to examine prospectively the longitudinal course of pregnancy in cases of ARED-Flow detected between 24/0 and 34/0… 
2001
2001
Characterization of mouse Atp6i gene, the gene promoter, and the gene expression.
Solubilization of bone mineral by osteoclasts depends on the formation of an acidic extracellular compartment through the action… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)