Results 131 to 140 of about 11,907 (228)

Detection of Major Mutations in CFTR, SERPINA1, HFE Genes in Benign Unconjugated Hyperbilirubinemia Phenotype

Sovremennye tekhnologii v meditsine
The aim of the study was to search for the associations of benign unconjugated hyperbilirubinemia phenotype with rs1799945 (H63D), rs1800562 (C282Y), rs1800730 (S65C) mutations of HFE gene, rs113993960 (ΔF508) of CFTR gene, rs28929474 (PIZ), rs17580 (PIS)
A. A. Ivanova, N. E. Apartseva, A.P. Kashirina, E. G. Nemtsova, Y.V. Ivanova, M. Kruchinina, S. A. Kurilovich, V. N. Maksimov   +7 more
semanticscholar   +1 more source

Cross-species comparison of orthologous gene expression in human bladder cancer and carcinogen-induced rodent models [PDF]

, 2011
Genes differentially expressed by tumor cells represent promising drug targets for anti-cancer therapy. Such candidate genes need to be validated in appropriate animal models.
Grubbs, Clinton J, Liu, Pengyuan, Lu, Yan, Lubet, Ronald A, Malone, James P, Townsend, Reid R, Wen, Weidong, You, Ming   +7 more
core   +2 more sources

Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies

International Journal of Molecular Sciences
Patients with predominantly antibody deficiencies (PADs) display hypogammaglobulinemia with a high prevalence of infections, along with autoimmune manifestations, benign and malignant lymphoproliferation and granulomatous disease.
S. Sarrou, I. Voulgaridi, Athanasia Fousika, Katerina Dadouli, Olympia Margaritopoulou, Ioannis Kakkas, Christos Hadjichristodoulou, F. Kalala, Mathaios Speletas   +8 more
semanticscholar   +1 more source

Convergent evolution of somatic escape variants in SERPINA1 in the liver in alpha-1 anti-trypsin deficiency

bioRxiv
Somatic variants accumulate in non-malignant tissues with age1,2. Functional variants leading to clonal advantage of hepatocytes accumulate in the liver from patients with acquired chronic liver disease (CLD)3–5. Whether these somatic variants are common
Natalia Brzozowska, Lily Y D Wu, Vera Khodzhaeva, William J Griffiths, Adam Duckworth, Hyunchul Jung, Tim H. H. Coorens, Y. Hooks, Joseph E. Chambers, P. Campbell, Stefan J. Marciniak, Matthew Hoare   +11 more
semanticscholar   +1 more source

Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT)

Genes
In the rapidly advancing field of bioinformatics, the development and application of computational tools to predict the effects of single nucleotide variants (SNVs) are shedding light on the molecular mechanisms underlying disorders.
Jakub Mróz, Magdalena Pelc, Karolina Mitusińska, Joanna Chorostowska-Wynimko, A. Jezela-Stanek   +4 more
semanticscholar   +1 more source

Pi∗S and Pi∗Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4-Independent Enhancer

Human Mutation
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by specific variants in the SERPINA1 gene, which encodes AAT. The most common disease-associated SERPINA1 variants are Pi∗S and Pi∗Z alleles, which cause moderate and severe AATD ...
Ainhoa Escuela-Escobar, E. Herrera-Luis, E. Martín-González, J. M. Hernández-Pérez, M. G. González Carracedo, J. A. Pérez   +5 more
semanticscholar   +1 more source

Serpina1e mediates the exercise-induced enhancement of hippocampal memory

Abstract The exercise-induced enhancement of learning and memory is thought to be regulated by body‒brain interactions via secretory proteins in the blood plasma1,2. Given the prominent role that skeletal muscle plays during exercise, the beneficial effects of exercise on cognitive functions appear to be mediated by muscle-derived secretory ...
Hyungju Park, Hyunyoung Kim, Sanghee Shin, Jeongho Han, Jong-Seo Kim   +4 more
openaire   +1 more source

α1-Antitrypsin (SERPINA1; AAT; A1AT) [PDF]

Science-Business eXchange, 2010
openaire   +2 more sources

Interactions between single nucleotide polymorphism of SERPINA1 gene and smoking in association with COPD: a case–control study

International Journal of COPD, 2017
Xiaowei Deng,1 Cun-hua Yuan,1 De Chang2 1Health Medical Center, 2Department of Respiratory Medicine, General Hospital of Chinese People’s Armed Police Forces, Beijing, People’s Republic of China Background: SERPINA1 gene has been implicated
Deng XW, Yuan CH, Chang D
doaj  

Genetic Association and Risk Scores in a COPD Meta-Analysis of 16,707 Subjects [PDF]

, 2017
The heritability of chronic obstructive pulmonary disease (COPD) cannot be fully explained by recognized genetic risk factors identified as achieving genome-wide significance.
Agusti, A, Bakke, P, Beaty, TH, Busch, R, Calverley, PM, Castaldi, PJ, Cho, MH, Crapo, JD, Donner, CF, Gulsvik, A, Hardin, ME, Hawrylkiewicz, I, Hobbs, BD, Hokanson, J, Kim, DK, Kim, WJ, Levy, RD, Litonjua, AA, Lomas, DA, Make, BJ, McGeachie, MJ, NETT Genetics, ECLIPSE, ICGN, and COPDGene Investigators, ., Paré, PD, Rennard, SI, Silverman, EK, Sliwinski, P, Sparrow, D, Tal-Singer, R, Vestbo, J, Wouters, EF, Yim, JJ, Zhou, J   +31 more
core