Associated Papers
Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.
Badonyi M et al.
Nature Communications, 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
Lysosomal Ion Channels and Transporters: Recent Findings, Therapeutic Potential, and Technical Approaches.
Kondratskyi A et al.
Bioelectricity, 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
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
Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND.
Funck-Brentano T et al.
European Journal of Medical Genetics, 2024
Effect of Roflumilast, a Selective PDE4 Inhibitor, on Bone Phenotypes in ADO2 Mice.
Alam I et al.
Calcified Tissue International, 2024
The PDE4 Inhibitors Roflumilast and Rolipram Rescue ADO2 Osteoclast Resorption Dysfunction.
Hong JM et al.
Calcified Tissue International, 2024
Novel hybrid silicon-lipid nanoparticles deliver a siRNA to cure autosomal dominant osteopetrosis in mice. Implications for gene therapy in humans.
Maurizi A et al.
Molecular Therapy. Nucleic Acids, 2023
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants.
Cao X et al.
Plos Genetics, 2023
Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis.
Chen Y 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
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
Chloroquine increases osteoclast activity in vitro but does not improve the osteopetrotic bone phenotype of ADO2 mice.
Alam I et al.
Bone, 2021
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Liang H et al.
Molecular Genetics & Genomic Medicine, 2021
Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells.
Li C et al.
Hereditas, 2021
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
Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications.
Norwood I et al.
Bone, 2021
Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters.
Bose S et al.
Frontiers in Cell and Developmental Biology, 2021
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Formosa MM et al.
Frontiers in Endocrinology, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Enhanced Activation of Rac1/Cdc42 and MITF Leads to Augmented Osteoclastogenesis in Autosomal Dominant Osteopetrosis Type II.
Jung YK et al.
Jbmr Plus, 2019
Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications.
Maurizi A et al.
Bone Research, 2019
RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development.
Maurizi A et al.
Bone, 2018
Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease.
Alam I et al.
Bone, 2017
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
Piret SE et al.
American Journal of Medical Genetics. Part A, 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
Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.
Deng H et al.
Molecular Pain, 2016
Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7.
Chen X et al.
Bone Research, 2016
Taxonomy of rare genetic metabolic bone disorders.
Masi L 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, 2015
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
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Barvencik F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II.
Zheng H et al.
Joint Bone Spine, 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
Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.
Alam I et al.
Bone, 2014
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
Cell biology and physiology of CLC chloride channels and transporters.
Stauber T et al.
Comprehensive Physiology, 2012
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