scholarly journals Role of folate-homocysteine pathway gene polymorphisms and nutritional cofactors in Down syndrome: A triad study

2015 ◽  
Vol 30 (8) ◽  
pp. 1982-1993 ◽  
Author(s):  
K.K. Sukla ◽  
S.K. Jaiswal ◽  
A.K. Rai ◽  
O.P. Mishra ◽  
V. Gupta ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Gene Polymorphisms ◽  
Pathway Gene

Role of vitamin D pathway gene polymorphisms on rifampicin plasma and intracellular pharmacokinetics

2017 ◽  
Vol 18 (9) ◽  
pp. 865-880 ◽  
Author(s):  
Sarah Allegra ◽  
Giovanna Fatiguso ◽  
Andrea Calcagno ◽  
Lorena Baietto ◽  
Ilaria Motta ◽  
...  
Keyword(s):  
Vitamin D ◽  
Gene Polymorphisms ◽  
Pathway Gene

Genetic susceptibility to tardive dyskinesia among schizophrenia subjects: IV. Role of dopaminergic pathway gene polymorphisms

2006 ◽  
Vol 16 (2) ◽  
pp. 111-117 ◽  
Author(s):  
Vibhuti Srivastava ◽  
Panchami G. Varma ◽  
Suman Prasad ◽  
Prachi Semwal ◽  
Vishwajit L. Nimgaonkar ◽  
...  
Keyword(s):  
Tardive Dyskinesia ◽  
Genetic Susceptibility ◽  
Gene Polymorphisms ◽  
Pathway Gene ◽  
Dopaminergic Pathway

Genetic susceptibility to schizophrenia: role of dopaminergic pathway gene polymorphisms

2009 ◽  
Vol 10 (2) ◽  
pp. 277-291 ◽  
Author(s):  
Meenal Gupta ◽  
Chitra Chauhan ◽  
Pallav Bhatnagar ◽  
Simone Gupta ◽  
Sandeep Grover ◽  
...  
Keyword(s):  
Genetic Susceptibility ◽  
Gene Polymorphisms ◽  
Pathway Gene ◽  
Dopaminergic Pathway

scholarly journals UCP 2 gene polymorphisms in obesity and diabetes, and the role of UCP 2 in cancer

FEBS Letters ◽  
2019 ◽  
Vol 593 (18) ◽  
pp. 2525-2534 ◽  
Author(s):  
Jinran Li ◽  
Rihua Jiang ◽  
Xianling Cong ◽  
Yunfeng Zhao
Keyword(s):  
Gene Polymorphisms ◽  
Obesity And Diabetes

scholarly journals Characterization of Caenorhabditis elegans Homologs of the Down Syndrome Candidate Gene DYRK1A

Genetics ◽  
2003 ◽  
Vol 163 (2) ◽  
pp. 571-580 ◽  
Author(s):  
William B Raich ◽  
Celine Moorman ◽  
Clay O Lacefield ◽  
Jonah Lehrer ◽  
Dusan Bartsch ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Caenorhabditis Elegans ◽  
Trisomy 21 ◽  
Gene Dosage ◽  
Inducible Promoters ◽  
C Elegans ◽  
Dual Specificity ◽  
Specificity Protein

Abstract The pathology of trisomy 21/Down syndrome includes cognitive and memory deficits. Increased expression of the dual-specificity protein kinase DYRK1A kinase (DYRK1A) appears to play a significant role in the neuropathology of Down syndrome. To shed light on the cellular role of DYRK1A and related genes we identified three DYRK/minibrain-like genes in the genome sequence of Caenorhabditis elegans, termed mbk-1, mbk-2, and hpk-1. We found these genes to be widely expressed and to localize to distinct subcellular compartments. We isolated deletion alleles in all three genes and show that loss of mbk-1, the gene most closely related to DYRK1A, causes no obvious defects, while another gene, mbk-2, is essential for viability. The overexpression of DYRK1A in Down syndrome led us to examine the effects of overexpression of its C. elegans ortholog mbk-1. We found that animals containing additional copies of the mbk-1 gene display behavioral defects in chemotaxis toward volatile chemoattractants and that the extent of these defects correlates with mbk-1 gene dosage. Using tissue-specific and inducible promoters, we show that additional copies of mbk-1 can impair olfaction cell-autonomously in mature, fully differentiated neurons and that this impairment is reversible. Our results suggest that increased gene dosage of human DYRK1A in trisomy 21 may disrupt the function of fully differentiated neurons and that this disruption is reversible.

scholarly journals Hyperactivated RAGE in Comorbidities as a Risk Factor for Severe COVID-19—The Role of RAGE-RAS Crosstalk

Biomolecules ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 876
Author(s):  
Sara Chiappalupi ◽  
Laura Salvadori ◽  
Rosario Donato ◽  
Francesca Riuzzi ◽  
Guglielmo Sorci
Keyword(s):  
Gene Polymorphisms ◽  
Renin Angiotensin System ◽  
Molecular Target ◽  
Advanced Glycation ◽  
Angiotensin System ◽  
Major Player ◽  
Glycation End Products ◽  
End Products ◽  
And Oxidative Stress

The receptor for advanced glycation-end products (RAGE) is a multiligand receptor with a role in inflammatory and pulmonary pathologies. Hyperactivation of RAGE by its ligands has been reported to sustain inflammation and oxidative stress in common comorbidities of severe COVID-19. RAGE is essential to the deleterious effects of the renin–angiotensin system (RAS), which participates in infection and multiorgan injury in COVID-19 patients. Thus, RAGE might be a major player in severe COVID-19, and appears to be a useful therapeutic molecular target in infections by SARS-CoV-2. The role of RAGE gene polymorphisms in predisposing patients to severe COVID-19 is discussed. 

Association of TLR4 gene polymorphisms with sepsis after a burn injury: findings of the functional role of rs2737190 SNP

2021 ◽  
Author(s):  
Claudia A. Colín-Castro ◽  
Rafael Franco-Cendejas ◽  
Hector I. Rocha-González ◽  
Esteban Cruz-Arenas ◽  
Norberto Leyva-García ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Functional Role ◽  
Burn Injury ◽  
Tlr4 Gene

A Study on the Role of Estrogen Receptor Gene Polymorphisms in Female Infertility

2016 ◽  
Vol 20 (11) ◽  
pp. 692-695 ◽  
Author(s):  
Monisha Swaminathan ◽  
Vijaya Ganesh ◽  
Teena Koshy ◽  
Priyanka Venugopal ◽  
Solomon Paul ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Female Infertility ◽  
Estrogen Receptor Gene ◽  
Receptor Gene Polymorphisms
Sign in / Sign up

Export Citation Format

Share Document