SLC4A2 Deficiency Causes a New Type of Osteopetrosis

Author:

Xue Jing‐Yi12,Grigelioniene Giedre3,Wang Zheng14,Nishimura Gen1,Iida Aritoshi15,Matsumoto Naomichi2,Tham Emma3,Miyake Noriko2,Ikegawa Shiro1,Guo Long1ORCID

Affiliation:

1. Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences Tokyo Japan

2. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

3. Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics Karolinska University Laboratory, Karolinska University Hospital Stockholm Sweden

4. Department of Medical Genetics, Institute of Basic Medical Sciences Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China

5. Department of Clinical Genome Analysis, Medical Genome Center National Center of Neurology and Psychiatry Kodaira Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Vetenskapsrådet

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Alkaline-shifted pH Sensitivity of AE2c1-mediated Anion Exchange Reveals Novel Regulatory Determinants in the AE2 N-terminal Cytoplasmic Domain

2. Regulation of AE2 anion exchanger by intracellular pH: critical regions of the NH2‐terminal cytoplasmic domain;Stewart AK;Am J Physiol Cell Physiol,2004

3. Molecular physiology of SLC4 anion exchangers

4. Targeted disruption of the Cl-/HCO3- exchanger Ae2 results in osteopetrosis in mice

5. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3;Ribeiro ML;Blood,2000

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