Results 131 to 140 of about 410,523 (291)

Phenotypes of Alpha 1 Antitrypsin in Karachi, Pakistan [PDF]

open access: yes, 2000
Objective: To determine serum level of the protease inhibitor, to identify phenotypes and determine their frequencies. Study Design: A prospective study. Setting: PMRC Research Centre, JPMC and the Aga Khan University Hospital Karachi.
Shahid, Anjum   +3 more
core  

Integrated dataset on acute phase protein response in chicken challenged with Escherichia coli lipopolysaccharide endotoxin [PDF]

open access: yes, 2018
Data herein describe the quantitative changes in the plasma proteome in chickens challenged with lipopolysaccharide (LPS), a bacterial endotoxin known to stimulate the host innate immune system obtained by shotgun quantitative proteomic tandem mass tags ...
Bain, Maureen   +7 more
core   +3 more sources

Targeted in vivo knock-in of human alpha-1-antitrypsin cDNA using adenoviral delivery of CRISPR/Cas9

open access: yesGene Therapy, 2018
Serum deficiency diseases such as alpha-1-antitrypsin deficiency are characterized by reduced function of serum proteins, caused by deleterious genetic mutations. These diseases are promising targets for genetic interventions.
C. Stephens   +4 more
semanticscholar   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri   +5 more
wiley   +1 more source

The delay effect of sulfur mustard gas on phenotype and plasma alpha-1-antitrypsin activity in war victim patients

open access: yesمجله دانشگاه علوم پزشکی گرگان, 2010
Background and Objective: Alpha-1 antitrypsin deficiency is recognized as a etiological base in lung injury. Therefore this study was performed to determine plasma level of alpha-1 antitrypsin in war victims exposed to sulfur mustard gas.
Majid Shohrati (PhD)   +3 more
doaj  

A rare case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis

open access: yesAnnals of Thoracic Medicine, 2014
Alpha 1-antitrypsin (AAT) belongs to the family of serpins (serine protease inhibitors). Loop sheet polymerization is the pathology behind serpinopathies which encompasses AAT, anti-thrombin III and neuroserpin deficiency.
Raghav Gupta   +2 more
doaj   +1 more source

Proteomic analysis of skin invasion by blood fluke larvae. [PDF]

open access: yes, 2008
BackgroundDuring invasion of human skin by schistosome blood fluke larvae (cercariae), a multicellular organism breaches the epidermis, basement membrane, and dermal barriers of skin.
Braschi, Simon   +7 more
core   +1 more source

Russell-like bodies in plant seeds share common features with prolamin bodies and occur upon recombinant protein production [PDF]

open access: yes, 2019
Although many recombinant proteins have been produced in seeds at high yields without adverse effects on the plant, endoplasmic reticulum (ER) stress and aberrant localization of endogenous or recombinant proteins have also been reported.
Arcalis, Elsa   +13 more
core   +2 more sources

Prevalence and Spectrum of Chronic Liver Disease Among Patients Seeking Health Care in Ghana

open access: yesLiver International, Volume 46, Issue 3, March 2026.
ABSTRACT Background Chronic liver diseases (CLD) leading to liver fibrosis and cirrhosis are a major cause of morbidity and mortality in sub‐Saharan Africa and pose a significant burden on its health care systems. We aimed to elucidate the prevalence of fibrosis/cirrhosis in patients seeking health care in Kumasi, Ghana, and its underlying aetiologies.
Felix Lehmann   +19 more
wiley   +1 more source

Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum [PDF]

open access: yes, 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

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