Results 41 to 50 of about 6,824 (156)

SERPINA1 gene identified in RNA-Seq showed strong association with milk protein concentration in Chinese Holstein cows [PDF]

open access: yesPeerJ, 2020
The detection of candidate genes and mutations associated with phenotypic traits is important for livestock animals. A previous RNA-Seq study revealed that SERPINA1 gene was a functional candidate that may affect milk protein concentration in dairy cows.
Cong Li   +6 more
doaj   +2 more sources

Characterization of three new SERPINA1 variants PiQ0Heidelberg II, PiQ0Heidelberg III and PiQ0Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency

open access: yesRespiratory Medicine Case Reports, 2023
Background: The clinical and molecular characteristics of three patients with previously unreported SERPINA1 mutations associated with severe alpha-1 antitrypsin deficiency (AATD) are described.
Philipp Höger   +10 more
doaj   +1 more source

Proteomic signatures of equine dental tooth tissues in ageing and disease

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Ageing and dental disease in horses lead to structural and functional deterioration of dental tissues, yet their molecular signatures remain poorly characterised. Understanding how these processes alter the protein composition of enamel, dentin, cementum and pulp is essential for improving equine oral health and identifying ...
Anders Jensen   +8 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

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

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

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

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

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

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