Associated Papers
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.
Amirfiroozy A et al.
Molecular and Cellular Probes, 2025
Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.
Chen X et al.
Frontiers in Endocrinology, 2024
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
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
Molecular insights into the human CLC-7/Ostm1 transporter.
Zhang S et al.
Science Advances, 2020
A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
Kang S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.
Zhang Y et al.
Theranostics, 2019
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
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
Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.
Deng H et al.
Molecular Pain, 2016
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
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
DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.
Lam CW et al.
Journal of Human Genetics, 2007
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.
Del Fattore A et al.
Journal of Medical Genetics, 2006
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
CLC chloride channels: correlating structure with function.
Estévez R et al.
Current Opinion in Structural Biology, 2002