Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.
作者信息
Venugopal Parvathy, Moore Sarah, Lawrence David M, George Amee J, Hannan Ross D, Bray Sarah Ce, To Luen Bik, D'Andrea Richard J, Feng Jinghua, Tirimacco Amanda, Yeoman Alexandra L, Young Chun Chun, Fine Miriam, Schreiber Andreas W, Hahn Christopher N, Barnett Christopher, Saxon Ben, Scott Hamish S
机构信息
Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
出版信息
Haematologica. 2017 Dec;102(12):e506-e509. doi: 10.3324/haematol.2017.166678. Epub 2017 Sep 29.
Abstract
摘要
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本文引用的文献
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Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.Shwachman-Diamond 综合征的可变临床表现：来自北美 Shwachman-Diamond 综合征登记处的最新信息。
J Pediatr. 2014 Apr;164(4):866-70. doi: 10.1016/j.jpeds.2013.11.039. Epub 2013 Dec 31.
2
Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.核糖体生物合成在骨骼发育及骨骼疾病发病机制中的作用
Biochim Biophys Acta. 2014 Jun;1842(6):769-78. doi: 10.1016/j.bbadis.2013.11.010. Epub 2013 Nov 16.
3
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.先天性角化不良症中的有丝分裂重组导致的返祖体性嵌合体。
Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.
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Realm of revertant mosaicism expanding.返座嵌合体的范围在扩大。
J Invest Dermatol. 2012 Mar;132(3 Pt 1):514-6. doi: 10.1038/jid.2011.445.
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Ribosomal protein gene deletions in Diamond-Blackfan anemia. Diamond-Blackfan 贫血中的核糖体蛋白基因突变缺失。
Blood. 2011 Dec 22;118(26):6943-51. doi: 10.1182/blood-2011-08-375170. Epub 2011 Nov 1.
6
How I treat Diamond-Blackfan anemia.我如何治疗 Diamond-Blackfan 贫血。
Blood. 2010 Nov 11;116(19):3715-23. doi: 10.1182/blood-2010-02-251090. Epub 2010 Jul 22.
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Ribosomopathies: human disorders of ribosome dysfunction.核糖体病：核糖体功能障碍的人类疾病。
Blood. 2010 Apr 22;115(16):3196-205. doi: 10.1182/blood-2009-10-178129. Epub 2010 Mar 1.
8
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.核糖体蛋白基因 RPS10 和 RPS26 常发生突变导致 Diamond-Blackfan 贫血。
Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28.
9
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.核糖体蛋白L5和L11突变与钻石黑范贫血患者的腭裂和拇指异常有关。
Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.
10
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.诊断与治疗先天性纯红细胞再生障碍性贫血：国际临床共识会议结果
Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30.
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