The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
Abstract
Albers-Schönberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption. Following the assignment of the gene causing ADO II to chromosome 16p13.3, we now report seven different mutations in the gene encoding the ClCN7 chloride channel in all 12 ADO II families analysed. Additionally, a patient with the severe, autosomal recessive, infantile form of osteopetrosis (ARO) was identified as being homozygous for a ClCN7 mutation. From genotype-phenotype correlations, it seems that ADO II reflects a dominant negative effect, whereas loss-of-function mutations in ClCN7 do not cause abnormalities in heterozygous individuals. Because some ARO patients have mutations in both copies of the ClCN7 gene, ADO II is allelic with a subset of ARO cases.
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Cites
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Park, M. D., Silvin, A., Ginhoux, F., & Merad, M. (2022) · Cell · doi:10.1016/j.cell.2022.10.007 · Cited by 644
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Metadata
- Authors
- Cleiren, E.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-12-01
- Volume
- 10
- Issue
- 25
- Pages
- 2861-2867
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2148797695
- Cited by
- 373
- References
- 18
- FWCI
- 4.56
- Type
- journal article
- Language
- en
- Open access
- closed
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- Cleiren, E. (2001). Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Human Molecular Genetics. https://doi.org/10.1093/hmg/10.25.2861
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