Results 41 to 50 of about 5,912 (202)
Assessment of liver fibrosis by transient elastography (Fibroscan®) in patients with A1AT deficiency [PDF]
Clinics and Research in Hepatology and Gastroenterology, 2019 Alpha-1-antitrypsin deficiency (A1ATD) is a common genetic condition which predisposes to emphysema and liver disorders. It is estimated that 10-15% of homozygous individuals for the Z allele (PiZZ) may develop liver fibrosis. The optimal modalities to detect liver disease in PiZZ adult patients need to be defined. The aim of this prospective study was
Chapuis-Cellier, C. +7 more
openaire +4 more sources
Canadian Respiratory Journal, 2012 Alpha-1 antitrypsin (A1AT) functions primarily to inhibit neutrophil elastase, and deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD).
DD Marciniuk +14 more
doaj +1 more source
Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum [PDF]
, 2015 The neuronal serpin neuroserpin undergoes polymerisation as a consequence of point mutations that alter its conformational stability, leading to a neurodegenerative dementia called familial encephalopathy with neuroserpin inclusion bodies (FENIB ...
Dalton, Lucy +13 more
core +3 more sources
Leukocyte adhesion and recruitment, and alpha-1-antitrypsin deficiency: a report from ATS 2001, May 18-23, San Francisco [PDF]
, 2001 The program at this year's American Thoracic Society international conference included over 300 scientific and clinical symposia. In this report I have reviewed the data presented on two important areas of lung inflammation, namely leukocyte recruitment ...
Woolhouse Ian
core +2 more sources
Glycomic analysis of high density lipoprotein shows a highly sialylated particle. [PDF]
, 2014 Many of the functional proteins and lipids in high density lipoprotein (HDL) particles are potentially glycosylated, yet very little is known about the glycoconjugates of HDL.
German, J Bruce +6 more
core +1 more source
Generalized W-Class State and its Monogamy Relation
, 2008 We generalize the W class of states from $n$ qubits to $n$ qudits and prove that their entanglement is fully characterized by their partial entanglements even for the case of the mixture that consists of a W-class state and a product state $\ket{0 ...
Barry C Sanders +5 more
core +1 more source
Journal of Pediatric and Neonatal Individualized Medicine, 2015 Caution should be taken in considering immunoelectrofocusing (IEF) as the best method for the diagnosis of alpha-1-antitrypsin (A1AT) deficiency, particularly in some population, including Sardinians, in which a M-like variant represents the most ...
Gavino Faa
doaj +1 more source
All-atom simulations reveal how single point mutations promote serpin misfolding
, 2018 Protein misfolding is implicated in many diseases, including the serpinopathies. For the canonical inhibitory serpin {\alpha}1-antitrypsin (A1AT), mutations can result in protein deficiencies leading to lung disease, and misfolded mutants can accumulate ...
Beccara, Silvio a +7 more
core +1 more source
P90 α-1 antitrypsin (a1AT) polymers cause extreme hepatocyte ageing [PDF]
Gut, 2011 Introduction a1AT, synthesised predominantly in the liver, is the archetypal inhibitor of the serpin protein family. a1AT deficiency is a common inherited disorder; Glu342Lys substitution causes abnormal folding of mutant protein, which may polymerise and aggregate in the endoplasmic reticulum.
M Mela +7 more
openaire +1 more source
Severe bilateral descemetoceles in Alpha-1 antitrypsin deficiency. [PDF]
, 2019 PurposeTo report a case of severe bilateral descemetoceles in a patient with alpha-1 antitrypsin (A1AT) deficiency during intensive care unit hospitalization.ObservationsA 42-year-old male presented with sub-acute bilateral vision loss during an ...
Baqai, Jeanine, Ma, Jeffrey
core +1 more source