共查询到20条相似文献,搜索用时 20 毫秒
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Edgar Wayburn 《The Western journal of medicine》1942,56(3):130-134
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Gordon J. Hildick-Smith Jeffrey D. Cooney Caterina Garone Laura S. Kremer Tobias B. Haack Jonathan N. Thon Non Miyata Daniel S. Lieber Sarah E. Calvo H. Orhan Akman Yvette Y. Yien Nicholas C. Huston Diana S. Branco Dhvanit I. Shah Matthew L. Freedman Carla M. Koehler Joseph E. Italiano Jr. Andreas Merkenschlager Skadi Beblo Tim M. Strom Thomas Meitinger Peter Freisinger M. Alice Donati Holger Prokisch Vamsi K. Mootha Salvatore DiMauro Barry H. Paw 《American journal of human genetics》2013
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Gordon?J. Hildick-Smith Jeffrey?D. Cooney Caterina Garone Laura?S. Kremer Tobias?B. Haack Jonathan?N. Thon Non Miyata Daniel?S. Lieber Sarah?E. Calvo H.?Orhan Akman Yvette?Y. Yien Nicholas?C. Huston Diana?S. Branco Dhvanit?I. Shah Matthew?L. Freedman Carla?M. Koehler Joseph?E. Italiano Jr. Andreas Merkenschlager Skadi Beblo Tim?M. Strom Thomas Meitinger Peter Freisinger M.?Alice Donati Holger Prokisch Vamsi?K. Mootha Salvatore DiMauro Barry?H. Paw 《American journal of human genetics》2013,93(5):906-914
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia. 相似文献
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E. G. Holmes 《BMJ (Clinical research ed.)》1945,2(4425):561-564
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R. Arthur Hughes 《BMJ (Clinical research ed.)》1945,2(4430):782-783
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