Associated Papers
Novel De Novo CLCN7 Mutation in Refractory Osteopetrosis-Related Osteomyelitis: A Case Report and Multidisciplinary Therapeutic Dilemmas.
Zhang YW et al.
Journal of Stomatology, Oral and Maxillofacial Surgery, 2025
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
Identification of a novel mutation in the CLCN7 gene in pediatric osteopetrosis: case report.
Jiang A et al.
Frontiers in Pediatrics, 2025
Effect of Allele-Specific Clcn7G213R siRNA Delivered Via a Novel Nanocarrier on Bone Phenotypes in ADO2 Mice on 129S Background.
Saffie-Siebert S et al.
Calcified Tissue International, 2024
Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.
Chen X et al.
Frontiers in Endocrinology, 2024
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.
Tüysüz B et al.
Bone, 2023
A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis.
Wang X et al.
Frontiers in Pediatrics, 2023
Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report.
Song XL et al.
World Journal of Clinical Cases, 2022
Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.
Wang Z et al.
Frontiers in Endocrinology, 2022
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Liang H et al.
Molecular Genetics & Genomic Medicine, 2021
Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.
Bug DS et al.
Genes, 2020
Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.
Schrecker M et al.
Elife, 2020
Molecular insights into the human CLC-7/Ostm1 transporter.
Zhang S et al.
Science Advances, 2020
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.
Zhang X et al.
Postgraduate Medicine, 2017
Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).
Zheng H et al.
Journal of Bone and Mineral Metabolism, 2016
Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.
Deng H et al.
Molecular Pain, 2016
Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2.
Capulli M et al.
Molecular Therapy. Nucleic Acids, 2015
Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Bonapace G et al.
Italian Journal of Pediatrics, 2014
Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.
Coudert AE et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2014
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
Wang C et al.
Journal of Bone and Mineral Metabolism, 2012
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
Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells.
Kajiya H et al.
Pflugers Archiv : European Journal of Physiology, 2009
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
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.
Waguespack SG et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties.
Chu K et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
CBS domains: structure, function, and pathology in human proteins.
Ignoul S et al.
American Journal of Physiology. Cell Physiology, 2005
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
Campos-Xavier AB et al.
American Journal of Medical Genetics. Part A, 2005
Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).
Alatalo SL et al.
Clinical Chemistry, 2004
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
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
Waguespack SG et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003