Associated Papers
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
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
Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.
Ma Y et al.
International Journal of Molecular Sciences, 2023
Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis.
Chen Y et al.
Frontiers in Pediatrics, 2023
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
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
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
Functions and therapeutic potential of protein phosphatase 1: Insights from mouse genetics.
Ferreira M et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2019
Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease.
Caetano-Lopes J et al.
Bone, 2017
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
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
CLC anion channel regulatory phosphorylation and conserved signal transduction domains.
Miyazaki H et al.
Biophysical Journal, 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