Results 51 to 60 of about 8,184 (185)
Cell Death DiscoveryColorectal 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
Respiratory 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
Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research
Mass 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
Identification of Pharmacological Autophagy Regulators of Active Ulcerative Colitis
Frontiers 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
Emphysema in an 11‐month‐old boy with alpha‐1 antitrypsin deficiency
Pediatric Investigation, EarlyView.Pediatric development of emphysema in Alpha‐1 Antitrypsin Deficiency (A1ATD) has been rarely described. In this case report, we document an 11‐month boy with A1ATD phenotype PiZZ with basilar centrilobular emphysema, the earliest such documented case.
Irvin Yi +3 more
wiley +1 more source
Lung function in the general population : the complex interplay of variants in "Serpina1" and other genes with the environment [PDF]
, 2013 Background. One of the globally most frequent health problems are obstructive lung diseases such as asthma and chronic obstructive pulmonary disease.
Thun, Gian Andri
core +1 more source
Small, EarlyView.By shaping the protein corona, lipid composition directs LNP tropism and enables the preferential delivery of a TIMP1‐targeting siRNA to liver macrophages. In a murine model of primary biliary cholangitis, this strategy promoted macrophage reprogramming and attenuated liver fibrosis.
Naths G. Sukubo +15 more
wiley +1 more source
Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
Respirology 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
Clinical Genetics, EarlyView.Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh +12 more
wiley +1 more source
Description of 22 new alpha-1 antitrypsin genetic variants
Orphanet 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