Genetic variants of α 1-antitrypsin

P Salahuddin - Current Protein and Peptide Science, 2010 - ingentaconnect.com
α1-antitrypsin (α1-AT) is a 52 kDa sialoglycoprotein. The function of α1-antitrypsin is to
protect the lower respiratory tract of lungs from proteolytic degradation by neutrophil …

Endoplasmic reticulum stress induced by surfactant protein C BRICHOS mutants promotes proinflammatory signaling by epithelial cells

JA Maguire, S Mulugeta, MF Beers - American journal of respiratory …, 2011 - atsjournals.org
Chronic interstitial lung disease in both adults and children is associated with mutations of
the surfactant protein C (SP-C) proprotein. Among these, mutations within the distal COOH …

Multiple ways to die: delineation of the unfolded protein response and apoptosis induced by surfactant protein C BRICHOS mutants

JA Maguire, S Mulugeta, MF Beers - … journal of biochemistry & cell biology, 2012 - Elsevier
Epithelial cell dysfunction is now recognized as an important mechanism in the
pathogenesis of interstitial lung diseases. Surfactant Protein C (SP-C), an alveolar type II cell …

Determination of free desmosine and isodesmosine as urinary biomarkers of lung disorder using ultra performance liquid chromatography–ion mobility-mass …

NA Devenport, JC Reynolds, V Parkash, J Cook… - … of chromatography B, 2011 - Elsevier
The elastin degradation products, desmosine (DES) and isodesmosine (IDES) are highly
stable, cross-linking amino-acids that are unique to mature elastin. The excretion of …

A1ATVar: a relational database of human SERPINA1 gene variants leading to α1‐antitrypsin deficiency and application of the VariVis software

S Zaimidou, S van Baal, TD Smith… - Human …, 2009 - Wiley Online Library
We have developed a relational database of human SERPINA1 gene mutations, leading to
α1‐antitrypsin (AAT) deficiency, called A1ATVar, which can be accessed over the World …

[HTML][HTML] Дефицит альфа-1-антитрипсина: генетические основы, эпидемиология, значение в развитии бронхо-легочной патологии

ОА Жигальцова-Кучинская, ЛН Сивицкая… - Вестник Витебского …, 2015 - cyberleninka.ru
Статья посвящена одному из ингибиторов сериновых протеаз альфа-1-антитрипсину.
Дефицит альфа-1-антитрипсина это наследственное заболевание, обусловленное …

[PDF][PDF] Альфа-1-антитрипсиновая недостаточность: Современный взгляд на проблему

ЕВ Колесникова - Сучасна гастроентерологія, 2008 - vitapol.com.ua
Считается, что 60—100 тыс. американцев имеют α1 антитрипсиновую
недостаточность. В то же время из 14 млн американцев с хроническими неспецифи …

[HTML][HTML] Дефицит альфа-1-антитрипсина у взрослых (проект Федеральных рекомендаций)

АС Белевский, НА Карчевская… - Практическая …, 2017 - cyberleninka.ru
Андрей Станиславович Белевский–докт. мед. наук, профессор, зав. кафедрой
пульмонологии ФДПО ФГБОУ ВО “Российский национальный исследовательский …

[BOOK][B] Astute, assertive, and Alpha-1: Quantifying empowerment in a rare genetic community

S Finn - 2008 - search.proquest.com
We investigated empowerment in the Alpha-1 Antitrypsin Deficiency (Alpha-1) community, a
rare, genetic disease network in the United States. The research was motivated by nine …

Determination of free desmosine and isodesmosine as urinary biomarkers of lung disorder by ultra performance liquid chromatography-ion mobility-mass …

NA Devenport, J Reynolds, V Parkash, J Cook… - 2011 - repository.lboro.ac.uk
The elastin degradation products, desmosine (DES) and isodesmosine (IDES) are highly
stable, cross-linking amino-acids that are unique to mature elastin. The excretion of …