SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts-Reference-Cited by-同舟云学术

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Published:2017-06-07 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Stattin Eva-Lena,Henning Petra,Klar Joakim^ORCID,McDermott Emma,Stecksen-Blicks Christina,Sandström Per-Erik,Kellgren Therese G.,Rydén Patrik,Hallmans Göran,Lönnerholm Torsten,Ameur Adam,Helfrich Miep H.,Coxon Fraser P.,Dahl Niklas,Wikström Johan,Lerner Ulf H.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-02533-2.pdf

Reference52 articles.

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2. Kornak, U. et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104, 205–215, doi: 10.1016/S0092-8674(01)00206-9 (2001).

3. Sobacchi, C. et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Human molecular genetics 10, 1767–1773, doi: 10.1093/hmg/10.17.1767 (2001).

4. Sobacchi, C., Schulz, A., Coxon, F. P., Villa, A. & Helfrich, M. H. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nature reviews. Endocrinology 9, 522–536, doi: 10.1038/nrendo.2013.137 (2013).

5. Villa, A., Guerrini, M. M., Cassani, B., Pangrazio, A. & Sobacchi, C. Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. Calcified tissue international 84, 1–12, doi: 10.1007/s00223-008-9196-4 (2009).

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