نتایج جستجو برای: alpha 1 antitrypsin a1at

تعداد نتایج: 2882257  

ژورنال: :hepatitis monthly 0
aleksandra topic university of belgrade, faculty of pharmacy, department of medical biochemistry, vojvode stepe, 45011221, serbia +38-1113951283, [email protected]; university of belgrade, faculty of pharmacy, department of medical biochemistry, vojvode stepe, 45011221, serbia +38-1113951283, [email protected] mila ljujic university of belgrade, institute of molecular genetics and genetic engineering, serbia dragica radojkovic university of belgrade, institute of molecular genetics and genetic engineering, serbia

context alpha-1-antitrypsin (a1at) is the most abundant liver-derived, highly polymorphic, glycoprotein in plasma. hereditary deficiency of alpha-1-antitrypsin in plasma (a1atd) is a consequence of accumulation of polymers of a1at mutants in endoplasmic reticulum of hepatocytes and other a1at-producing cells. one of the clinical manifestations of a1atd is liver disease in childhood and cirrhosi...

Mitra Samareh Fekri Mohammad Rahmatian, Nasrin Bazargan Harandi Nasrollah Jamshidi Gohari, Sayed Mehdi Hashemi Bajgani,

Background: One of the genetic risk factors for chronic obstructive pulmonary disease (COPD) is deficiency of Alpha-1 Antitrypsin (A1AT). There is no exact statistics about the prevalence of this disease in different regions of Iran. The present study aimed to determine the prevalence of alpha-1 antitrypsin (A1AT) deficiency in COPD patients in Kerman, Iran. Metho...

Journal: :Saudi medical journal 2013
Gong B Xue Wen L Zheng Lei H Wang Li Y Lu

OBJECTIVE To investigate the relationship between alpha 1-antitrypsin (A1AT), adiponectin, leptin, blood glucose, and insulin protein levels in human serum and obesity. METHODS Forty-eight subjects with normal blood glucose levels and average age of 32.4+/-5.1 years were enrolled in this study. The study took place in the Reproductive Center, The Second Hospital of Jilin University, Changchun...

2016
M Y Pervakova V L Emanuel O N Titova S V Lapin V I Mazurov I B Belyaeva A L Chudinov T V Blinova E A Surkova

The deficiency of alpha-1 protease inhibitor, or alpha-1-antitrypsin (A1AT), predisposes to chronic lung diseases and extrapulmonary pathology. Besides classical manifestations, such as pulmonary emphysema and liver disease, alpha-1-antitrypsin deficiency (A1ATD) is also known to be associated with granulomatosis with polyangiitis (GPA or Wegener's granulomatosis). The aim of our study was to e...

Journal: :Pharmaceutics 2021

In vitro-transcribed (IVT) mRNA has come into focus in recent years as a potential therapeutic approach for the treatment of genetic diseases. The nebulized formulations IVT-mRNA-encoding alpha-1-antitrypsin (A1AT-mRNA) would be highly acceptable and tolerable remedy protein replacement therapy deficiency future. Here we show that lipoplexes containing A1AT-mRNA prepared optimum conditions coul...

2016

Submit Manuscript | http://medcraveonline.com Abbreviations: A1ATD: Alpha-1 Antitrypsin Deficiency; A1AT: Alpha-1 Antitrypsin; ER: Endoplasmic Reticulum; PAS: Periodic Acid Schiff; SNPs: Single Nucleotide Polymorphisms; ERManI: ER Mannosidase I; IPSC: Induced Pluripotent Stem Cell; GC: GlobuleContaining; GD: Globule Devoid; 4-PBA: 4-Phenylbutyric Acid; GFP: Green Fluorescent Protein; LOPAC: Lib...

Journal: :Human molecular genetics 2015
Benedikt Schaefer David Haschka Armin Finkenstedt Britt-Sabina Petersen Igor Theurl Benjamin Henninger Andreas R Janecke Chia-Yu Wang Herbert Y Lin Lothar Veits Wolfgang Vogel Günter Weiss Andre Franke Heinz Zoller

Liver disease due to alpha-1-antitrypsin deficiency (A1ATD) is associated with hepatic iron overload in a subgroup of patients. The underlying cause for this association is unknown. The aim of the present study was to define the genetics of this correlation and the effect of alpha-1-antitrypsin (A1AT) on the expression of the iron hormone hepcidin. Full exome and candidate gene sequencing were ...

2012
Aleksandra Topic Mila Ljujic Dragica Radojkovic

CONTEXT Alpha-1-antitrypsin (A1AT) is the most abundant liver-derived, highly polymorphic, glycoprotein in plasma. Hereditary deficiency of alpha-1-antitrypsin in plasma (A1ATD) is a consequence of accumulation of polymers of A1AT mutants in endoplasmic reticulum of hepatocytes and other A1AT-producing cells. One of the clinical manifestations of A1ATD is liver disease in childhood and cirrhosi...

Journal: :The Journal of the American Board of Family Practice 1992
A F Barker

BACKGROUND A congenital cause of emphysema resulting from alpha 1-antitrypsin (A1AT) deficiency affects 1 in 2500 individuals and could account for emphysema in 2 percent of all persons with emphysema. Individuals aged 30 to 45 years with chronic shortness of breath and coughing could have A1AT deficiency. METHODS Using the key words "alpha 1-antitrypsin deficiency," "chronic obstructive pulm...

Journal: :The Malaysian journal of pathology 1993
A K Malik J O McGee

The role of alpha-1-antitrypsin (A1AT) in the small intestinal mucosa in health and disease is poorly understood. We studied the prevalence and distribution of A1AT positive cells in small bowel biopsies from 35 coeliac disease patients and 25 normal controls retrieved from the records of the Department of Pathology, University of Oxford. Serial 6 micron thick paraffin sections were stained wit...

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