Results 61 to 70 of about 42,616 (247)

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

open access: yesOrphanet Journal of Rare Diseases
Background Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1.
Ilaria Ferrarotti   +2 more
doaj   +1 more source

The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency

open access: yesInternational Journal of Mycobacteriology, 2017
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation.
Shahram Habibzadeh   +3 more
doaj   +1 more source

Pulse of inflammatory proteins in the pregnant uterus of European polecats (Mustela putorius) leading to the time of implantation [PDF]

open access: yes, 2017
Uterine secretory proteins protect the uterus and conceptuses against infection, facilitate implantation, control cellular damage resulting from implantation, and supply pre-implantation embryos with nutrients.
Burchmore, Richard J.S.   +2 more
core   +1 more source

Gut function among children treated for severe acute malnutrition: A cohort study in Uganda

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Impaired gut function in children with severe acute malnutrition (SAM) is associated with morbidity. We aimed to assess changes in six biomarkers representing different domains of gut function among children with complicated SAM during nutritional rehabilitation, and to identify predictors of these changes.
Betty Lanyero   +12 more
wiley   +1 more source

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

open access: yesBMC Research Notes, 2019
Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa   +6 more
doaj   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

open access: yesJPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano   +12 more
wiley   +1 more source

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

open access: yesDrug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

Protective role of the alpha-1-antitrypsin in intervertebral disc degeneration

open access: yesJournal of Orthopaedic Surgery and Research, 2021
Background Intervertebral disc degeneration is a complex disease with high prevalence. It suggests that cell death, senescence, and extracellular matrix degradation are involved in the pathogenesis. Alpha-1 antitrypsin (AAT), a serine protease inhibitor,
Weikun Liu, Yanfu Wang
doaj   +1 more source

Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu   +4 more
wiley   +1 more source

Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease

open access: yesArquivos de Gastroenterologia, 2001
Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic ...
De TOMMASO Adriana Maria Alves   +5 more
doaj  

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