An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy

G Kurland, RR Deterding, JS Hagood… - American journal of …, 2013 - atsjournals.org
Background: There is growing recognition and understanding of the entities that cause
interstitial lung disease (ILD) in infants. These entities are distinct from those that cause ILD …

A mutation in TTF1/NKX2. 1 is associated with familial neuroendocrine cell hyperplasia of infancy

LR Young, GH Deutsch, RE Bokulic, AS Brody… - Chest, 2013 - Elsevier
Background Neuroendocrine cell hyperplasia of infancy (NEHI) is a childhood diffuse lung
disease of unknown etiology. We investigated the mechanism for lung disease in a subject …

SFTPC mutations cause SP‐C degradation and aggregate formation without increasing ER stress

T Thurm, E Kaltenborn, S Kern… - European journal of …, 2013 - Wiley Online Library
Background Mutations in the gene encoding surfactant protein C (SP‐C) cause familial and
sporadic interstitial lung disease (ILD), which is associated with considerable morbidity and …

Large ABCA3 and SFTPC Deletions Resulting in Lung Disease

LB Henderson, K Melton, S Wert, J Couriel… - Annals of the …, 2013 - atsjournals.org
Rationale: Mutations in genes encoding proteins important in the function and metabolism of
pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is …

肺表面活性蛋白基因突变相关性婴幼儿肺间质疾病一例报告并文献复习

朱春梅, 曹玲, 黄荣妍, 王亚军, 邹继珍, 袁新宇, 宋昉… - 中华儿科杂志, 2013 - cqvip.com
目的报告1 例肺表面活性蛋白(sP) 基因突变相关性婴幼儿肺间质疾病的临床诊断过程, 复习文献,
了解sP 基因突变与婴幼儿肺间质疾病的关系. 方法总结, 分析病例的临床, 胸部影像学 …

Врожденный дефицит сурфактанта: генетика, патология, диагностика, терапия

ДЮ Овсянников, МА Беляшова… - Вопросы диагностики …, 2013 - elibrary.ru
В обзоре на основании данных современной литературы представлены сведения о
биологии, физиологии и метаболизме сурфактанта, идентифицированных в …

Lung fibrosis-associated surfactant protein A1 and C variants induce latent transforming growth factor β1 secretion in lung epithelial cells

M Maitra, M Dey, WC Yuan, PW Nathanielsz… - Journal of Biological …, 2013 - ASBMB
Missense mutations of surfactant proteins are recognized as important causes of inherited
lung fibrosis. Here, we study rare and common surfactant protein (SP)-A1 and SP-C variants …

肺表面活性物质蛋白与新生儿呼吸窘迫综合征风险的研究进展

梅花, 红荣 - 中国新生儿科杂志, 2013 - cqvip.com
肺表面活性物质蛋白与新生儿呼吸窘迫综合征风险的研究进展-[维普官方网站]-www.cqvip.com-维普
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支气管肺发育不良的分子水平及发病机制的研究进展

张华, 刘漫君, 全裕凤 - 医学综述, 2013 - cqvip.com
随着早产儿救治成活率的不断提高, 支气管肺发育不良(BPD) 的病理改变, 分型等也随之发生了
改变. BPD 可能是早产, 慢性氧暴露, 炎症等多因素共同作用的结果, 是婴幼儿时期慢性呼吸系统 …

[PDF][PDF] Familial interstitial pneumonia in an adolescent boy with surfactant protein C gene (Y104H) mutation

N Kuse, S Abe, H Hayashi, K Kamio, Y Saito… - Sarcoidosis Vasc Diffuse …, 2013 - Citeseer
Recent studies have suggested that some cases of familial interstitial pneumonia are
associated with mutations in the gene encoding surfactant protein C (SFTPC). We report …