Results 61 to 70 of about 10,966 (204)

Genetic susceptibility. [PDF]

open access: yes, 2014
Why only 20% of smokers develop clinically relevant chronic obstructive pulmonary disease (COPD) was a puzzle for many years. Now, epidemiologic studies point clearly toward a large heritable component.
Lomas, David A, Marciniak, Stefan J
core   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

open access: yesMass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik   +3 more
wiley   +1 more source

The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis

open access: yesInternational Journal of COPD, 2020
Martina Veith,1 Julia Tüffers,1 Erika Peychev,1 Andreas Klemmer,1 Viktor Kotke,1 Sabina Janciauskiene,2 Susanne Wilhelm,1 Robert Bals,3 Andreas Rembert Koczulla,4 Claus Franz Vogelmeier,1 Timm Greulich1 1Department of Medicine, Pulmonary and ...
Veith M   +10 more
doaj  

Identification of Pharmacological Autophagy Regulators of Active Ulcerative Colitis

open access: yesFrontiers in Pharmacology, 2021
Background: Ulcerative colitis (UC) is a chronic recurrent disease of unknown etiology. Recently, it has been reported that autophagy-related gene polymorphism is closely associated with increased risk of UC, and the therapeutic effect of some UC drugs ...
Peishan Qiu   +19 more
doaj   +1 more source

The Endocrine Disrupting Compounds Bisphenol‐A and α‐Zeranol Mimic the Estrogen Transcriptional Program to Promote Proliferation and Stemness in Breast Cancer Cells

open access: yesMolecular Carcinogenesis, EarlyView.
ABSTRACT Excessive activation of the estrogen receptor (ER) drives proliferation, progression, and the formation of breast cancer stem cells (CSCs) in ER‐positive breast cancer. Estrogenic endocrine disrupting compounds (EDCs) found in plastics, water, and food are also able to bind to the ER.
Cassandra Winz   +9 more
wiley   +1 more source

CEBPB-mediated upregulation of SERPINA1 promotes colorectal cancer progression by enhancing STAT3 signaling

open access: yesCell Death Discovery
Colorectal cancer (CRC) is a highly malignant carcinoma associated with poor prognosis, and metastasis is one of the most common causes of death in CRC. Serpin Family A Member 1 (SERPINA1) is a serine protease inhibitor from the Serpin family.
Yiming Ma   +7 more
doaj   +1 more source

Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma

open access: yesRespirology Case Reports, 2022
Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and ...
Marina Aiello   +9 more
doaj   +1 more source

The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. [PDF]

open access: yes, 2015
Individuals with Alpha-1 antitrypsin deficiency (AATD) have mutations in the SERPINA1 gene causing genetic susceptibility to early onset lung and liver disease that may result in premature death.
Carroll, Tomás P   +8 more
core   +2 more sources

SPROUTS_DB: An Implemented Database of Contaminants for Extracellular Vesicle Proteomics Studies

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Current proteomics techniques allow rapid identification and quantification of proteins within any given biological source. However, LC–MS/MS proteomics is vulnerable to laboratory and sample‐associated contaminants. Therefore, accurate identification and annotation of such contaminants is crucial for development of reliable databases ...
Maria Gaetana Giovanna Pittalà   +10 more
wiley   +1 more source

Description of 22 new alpha-1 antitrypsin genetic variants

open access: yesOrphanet Journal of Rare Diseases, 2018
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury.
Céline Renoux   +10 more
doaj   +1 more source

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