@article {Al-Mutairy1802041作者={开斋节a Al-Mutairy Faiga Ahmad Imtiaz和默罕默德•哈立德Somaya Al ~ Qattan Soad萨利赫和Linah马哈茂德。艾哈迈迪马赫~穆罕默德Al-Saif和Latifa阿勒-哈吉和《Al-Enazi和阿卜杜拉~ M。AlJebreen Shamayel Faheem穆罕默德和阿卜杜拉~法赫德Mobeireek哈立德Alkattan和Muzamil阿明Chisti Irina ~ G。Luzina和穆罕默德Al-Owain伊哈布Weheba和安倍~穆罕默德Abdelsayed Khushnooda拉姆赞•卢克·j·詹森和沃尔特·孔Ayodele Alaiya和凯特克里森和布莱恩·f·迈耶和谢尔盖·p·Atamas和哈立德~。Khabar和杰弗里·d·Hasday Futwan Al-Mohanna}, title ={非典型肺纤维化与co-inheritance S100A3钙结合蛋白基因的突变和S100A13},体积= {54}= {1},elocation-id = {1802041} = {2019}, doi ={10.1183/13993003.02041 -2018},出版商={欧洲呼吸学会},文摘={背景肺纤维化是肺移植的主要指标之一。188bet官网地址原因不明的疾病,可以进步,导致细胞外基质(ECM)的变形,炎症、纤维化和最终的死亡。方法13例来自两个不相关的家庭血缘的父母出生的呈现与间质性肺疾病临床调查。9名患者发生呼吸衰竭,随后死亡。分子遗传学调查进行患者{\ textquoteright}全血或归档组织和细胞生物调查进行patient-derived成纤维细胞。结果早发性肺纤维化的独特模式的组合(12 {\ textendash} 15岁)以独特的放射性的发现,包括1)牵引支气管扩张,2)intralobular小叶间隔增厚,3)收缩的主要次级肺小叶bronchovascular包和4)早期2型呼吸衰竭(血液中二氧化碳含量升高),代表了小说家族性肺纤维化的临床亚型。分子遗传学的家庭调查显示hypomorphic变体S100A3 S100A13小说删除突变,隔离与疾病常染色体隐性的方式。家庭成员是杂合的运营商或野生型正常的变异都不受影响。 Analysis of patient-derived fibroblasts demonstrated significantly reduced S100A3 and S100A13 expression. Further analysis demonstrated aberrant intracellular calcium homeostasis, mitochondrial dysregulation and differential expression of ECM components.Conclusion Our data demonstrate that digenic inheritance of mutations in S100A3 and S100A13 underlie the pathophysiology of pulmonary fibrosis associated with a significant reduction of both proteins, which suggests a calcium-dependent therapeutic approach for management of the disease.New evidence links an atypical form of pulmonary fibrosis with digenic mutations in the genes for calcium binding proteins S100A3 and S100A13. This implicates calcium homeostasis in the aetiology and pathogenesis of pulmonary fibrosis. http://bit.ly/2LyUQwb}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/54/1/1802041}, eprint = {//www.qdcxjkg.com/content/54/1/1802041.full.pdf}, journal = {European Respiratory Journal} }