Clinical and Cellular Manifestations of OSTM1-Related Infantile Osteopetrosis-Reference-Cited by-同舟云学术

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Clinical and Cellular Manifestations of OSTM1-Related Infantile Osteopetrosis

Published:2007-10-08 Issue:2 Volume:23 Page:296-300
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Maranda Bruno,Chabot Gilles,Décarie Jean-Claude,Pata Monica,Azeddine Bouziane,Moreau Alain,Vacher Jean

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference14 articles.

1. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis;Frattini;Nat Genet,2000

2. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis;Kornak;Hum Mol Genet,2000

3. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration;Kasper;EMBO J,2005

4. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man;Kornak;Cell,2001

5. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human;Chalhoub;Nat Med,2003

Cited by 44 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis;Bone;2023-02

2. The clinical features of OSTM1 ‐associated malignant infantile osteopetrosis: A retrospective, single‐center experience over one decade;American Journal of Medical Genetics Part A;2022-11-11

3. OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration;Bone;2022-10

4. A Foxo1-Klf2-S1pr1-Gnai1-Rac1 signaling axis is a critical mediator of Ostm1 regulatory network in T lymphopoiesis;iScience;2022-04

5. Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7 ‐related osteopetrosis;Journal of Bone and Mineral Research;2021-05-18

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