Associated Papers
Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants.
Arunachalam AK et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.
El-Kamah GY et al.
Genes, 2023
Cancer carrier screening in the general population using whole-genome sequencing.
Chang YS et al.
Cancer Medicine, 2023
Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.
Indrawinata K et al.
Frontiers in Molecular Neuroscience, 2023
Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis.
Shinwari K et al.
Frontiers in Molecular Biosciences, 2022
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis.
Capo V et al.
Haematologica, 2021
Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant.
Cao WH et al.
Chinese Medical Journal, 2018
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.
Cao W et al.
Bmj Open Ophthalmology, 2018
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.
Zhang XY et al.
Acta Pharmacologica Sinica, 2017
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.
Moscatelli I et al.
Bone, 2013
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
Pangrazio A et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2012
Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern.
Morovvati S et al.
International Journal of Molecular and Cellular Medicine, 2012
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
Susani L et al.
Human Mutation, 2004
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.
Scimeca JC et al.
Human Mutation, 2003
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C et al.
Human Molecular Genetics, 2001