Associated Papers
Can transient neonatal osteosclerosis be differentiated from malignant infantile osteopetrosis?
Ackah SA et al.
Bone Reports, 2025
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
Evaluation of Quality and Bone Microarchitecture Alterations in Osteopetrosis Patients: Assessed by HR-PQCT.
Zhou R et al.
The Journal of Clinical Endocrinology and Metabolism, 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
SUGAR-seq reveals the transcriptome and N-linked glycosylation landscape of mononuclear phagocytes at single-cell resolution in a mouse model of autosomal dominant osteopetrosis type 2.
Sha Y et al.
Bmc Biology, 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
CRISPR/Cas9-Mediated Gene Correction in Osteopetrosis Patient-Derived iPSCs.
Li D et al.
Frontiers in Bioscience (landmark Edition), 2023
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
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
Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.
Iyer GR et al.
Journal of Orthopaedic Surgery and Research, 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
Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells.
Li C et al.
Hereditas, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.
Kaur P et al.
Case Reports in Genetics, 2021
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
Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells.
Ou M et al.
Stem Cell Research & Therapy, 2019
Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.
Li L et al.
Molecular Medicine Reports, 2019
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.
Yang Y et al.
Molecular Medicine Reports, 2019
ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.
Zhang Y et al.
Theranostics, 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
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
Ion channels, channelopathies, and tooth formation.
Duan X
Journal of Dental Research, 2014
Next-generation sequencing for disorders of low and high bone mineral density.
Sule G 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, 2013
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia.
Xue Y et al.
Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-maxillo-facial Surgery, 2012
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
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
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