Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G
Cells, 2022
New insights into the pathogenicity of non-synonymous variants through multi-level analysis.
Sun H et al.
Scientific Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
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
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 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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
Yu T et al.
Molecular Medicine Reports, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.
Chu K et al.
Bone, 2008
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
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.
Kornak U et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.
Chu K et al.
Bone, 2005
Polymorphisms of the CLCN7 gene are associated with BMD in women.
Pettersson U et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
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