Associated Papers
Autosomal dominant osteopetrosis type II associated with CLCN7. Analysis of five cases.
Bustos-Merlo A et al.
Medicina Clinica, 2026
Fractures are Highly Correlated with Bone Density and Inversely Correlated with Bone Turnover Markers in Autosomal Dominant Osteopetrosis.
Econs MJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.
Polgreen LE et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Polovitskaya MM et al.
The Journal of Biological Chemistry, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.
Chen X et al.
Frontiers in Endocrinology, 2024
Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report.
Gong HP et al.
World Journal of Clinical Cases, 2023
A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis.
Wang X et al.
Frontiers in Pediatrics, 2023
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.
Wang Z et al.
Frontiers in Endocrinology, 2022
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
Di Zanni E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.
Bug DS et al.
Genes, 2020
Molecular insights into the human CLC-7/Ostm1 transporter.
Zhang S et al.
Science Advances, 2020
A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis.
Peng H et al.
Frontiers in Cell and Developmental Biology, 2020
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.
Yang Y et al.
Molecular Medicine Reports, 2019
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis.
Lin WD et al.
Pediatrics and Neonatology, 2016
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Pang Q 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, 2016
Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Bonapace G et al.
Italian Journal of Pediatrics, 2014
Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
Ludwig CF et al.
The Journal of Biological Chemistry, 2013
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
Leisle L et al.
The Embo Journal, 2011
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Pangrazio A et al.
Human Mutation, 2010
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
Zhang ZL et al.
Journal of Bone and Mineral Metabolism, 2009
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.
Del Fattore A et al.
Journal of Medical Genetics, 2006
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Frattini A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003