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Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context.

作者信息

Stearman Robert S, Cornelius Amber R, Young Lisa R, Conklin David S, Mickler Elizabeth A, Lu Xiao, Hara Naoko, Fettig Lynsey M, Phang Tzu L, Geraci Mark W

机构信息

1 Indiana University School of Medicine Indianapolis, Indiana.

2 New York University School of Medicine New York, New York.

出版信息

Am J Respir Crit Care Med. 2019 Jul 15;200(2):253-256. doi: 10.1164/rccm.201902-0457LE.

DOI:10.1164/rccm.201902-0457LE
PMID:30985222
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6835081/
Abstract
摘要

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BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.BLOC-3 突变导致 Hermansky-Pudlak 综合征,是一种 Rab32/38 鸟嘌呤核苷酸交换因子。
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本文引用的文献

1
Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database.ENU 诱导突变在 Mutagenetix 数据库中表型可检测蛋白质损伤的概率。
Nat Commun. 2018 Jan 30;9(1):441. doi: 10.1038/s41467-017-02806-4.
2
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.特发性肺纤维化合并 Hermansky-Pudlak 综合征。
Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR.
3
Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis.遗传研究为特发性肺纤维化的发病机制提供了线索。
Dis Model Mech. 2013 Jan;6(1):9-17. doi: 10.1242/dmm.010736.
4
A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).溶酶体相关细胞器生物发生复合体3(BLOC-3)的形成需要HPS1和HPS4之间的二价相互作用。
Biochim Biophys Acta. 2013 Mar;1833(3):468-78. doi: 10.1016/j.bbamcr.2012.10.019. Epub 2012 Oct 23.
5
BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.BLOC-3 突变导致 Hermansky-Pudlak 综合征,是一种 Rab32/38 鸟嘌呤核苷酸交换因子。
Curr Biol. 2012 Nov 20;22(22):2135-9. doi: 10.1016/j.cub.2012.09.020. Epub 2012 Oct 18.
6
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.BLOC-3,一种包含赫尔曼斯基-普德拉克综合征基因产物HPS1和HPS4的蛋白质复合物。
J Biol Chem. 2003 Aug 1;278(31):29376-84. doi: 10.1074/jbc.M301294200. Epub 2003 May 19.
7
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.一种细胞质细胞器疾病——赫尔曼斯基-普德拉克综合征相关基因的定位克隆
Nat Genet. 1996 Nov;14(3):300-6. doi: 10.1038/ng1196-300.