Results 41 to 50 of about 42,616 (247)

Tumor‐Derived Alpha‐1 Antitrypsin Promotes Liver Metastasis of Colorectal Cancer Through the Neutrophil Extracellular Traps–CCDC25 Pathway

open access: yesAdvanced Science, EarlyView.
ABSTRACT Liver metastasis is a leading cause of mortality in colorectal cancer (CRC), where the inflammatory tumor microenvironment, specifically neutrophil infiltration, significantly promotes metastatic colonization. This study reveals a pro‐metastatic role for alpha‐1 antitrypsin (A1AT) in CRC liver metastasis via a dual mechanism involving ...
Qian Fei   +11 more
wiley   +1 more source

Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency

open access: yesGE: Portuguese Journal of Gastroenterology, 2023
Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene. The homozygous Pi*Z variant is responsible for the majority of the classic severe form of alpha-1 antitrypsin deficiency ...
Nélia Abreu   +3 more
doaj   +1 more source

Idiopathic Hemochromotosis and Alpha‐1‐Antitrypsin Deficiency: Coexistence in a Family with Progressive Liver Disease in the Proband [PDF]

open access: yes, 1983
A patient with coexistent hemochromatosis and alpha‐1‐antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others
Addison   +21 more
core   +1 more source

Endoplasmic Reticulum Geometry Dictates Neuronal Bursting via Calcium Store Refill Rates and Exposes Selective Neuronal Vulnerability

open access: yesAdvanced Science, EarlyView.
The ER's continuous tubular network is maintained by ER‐shaping proteins whose mutation or dysregulation contributes to neurodegenerative diseases. Here, we show that ER morphology sets the speed of Ca2+ store replenishment between firing events. Disrupting ER continuity slows intra‐ER Ca2+ redistribution from extracellular refill (SOCE) sites, driving
Valentina Davi   +13 more
wiley   +1 more source

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

open access: yesInternational Journal of COPD, 2020
Kylie BR Belchamber,1 Eloise M Walker,1 Robert A Stockley,1 Elizabeth Sapey1,2 1Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; 2NIHR Clinical Research Facility Birmingham, University ...
Belchamber KBR   +3 more
doaj  

Severe bilateral descemetoceles in Alpha-1 antitrypsin deficiency. [PDF]

open access: yes, 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

An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z [PDF]

open access: yes, 2019
The classical form of α1-antitrypsin deficiency (ATD) is characterized by intracellular accumulation of the misfolded variant α1-antitrypsin Z (ATZ) and severe liver disease in some of the affected individuals.
Andrew S. Chu (6256490)   +12 more
core   +3 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +1 more source

Genetic Variants of Serum Alpha 1 Antitrypsin [PDF]

open access: yes, 1995
Complete absence of data on alpha 1 antitrypsin in this country prompted us to determine serum levels using radial immunodiffusion (RID) and phenotypes by isoelectric focusing (IEF) in 100 healthy adults (52 males and 48 females).
Shahid, Anjum   +3 more
core   +1 more source

Digestion of Protein in Premature and Term Infants. [PDF]

open access: yes, 2012
Premature birth rates and premature infant morbidity remain discouragingly high. Improving nourishment for these infants is the key for accelerating their development and decreasing disease risk. Dietary protein is essential for growth and development of
Dallas, David C   +3 more
core   +2 more sources

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