Associated Papers
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.
Medina-Gomez C et al.
Communications Biology, 2023
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
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
Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.
Stepensky P et al.
Blood Advances, 2019
N-linked glycosylation of a subunit isoforms is critical for vertebrate vacuolar H+ -ATPase (V-ATPase) biosynthesis.
Esmail S et al.
Journal of Cellular Biochemistry, 2018
Eukaryotic V-ATPase: novel structural findings and functional insights.
Marshansky V et al.
Biochimica Et Biophysica Acta, 2014
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.
Moscatelli I et al.
Bone, 2013
Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit.
Bhargava A et al.
The Journal of Biological Chemistry, 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
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C et al.
Human Molecular Genetics, 2001
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