Results 31 to 40 of about 43,307 (224)

Effect of the Point Mutation in Growth Differentiation Factor 9 Gene in Awassi Sheep Oocytes on Sterility and Fertility

Journal of Pure and Applied Microbiology, 2018
Growth differentiation factor 9 (GDF9) is play a critical role in ovarian follicular development and ovulation rate. The present research was performed to investigate the correlation between single nucleotide polymorphism (SNP) of GDF9 gene and ...
H. Al-Mutar, L. Younis, H. Khawla
doaj   +1 more source

EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis

Frontiers in Genetics, 2023
Background: Chronic obstructive pulmonary disease (COPD) affects approximately 400 million people worldwide and is associated with high mortality and morbidity.
Qinjun Yang, Qinjun Yang, Qinjun Yang, Wanqiu Huang, Dandan Yin, Lu Zhang, Yating Gao, Jiabing Tong, Jiabing Tong, Jiabing Tong, Zegeng Li, Zegeng Li, Zegeng Li   +12 more
doaj   +1 more source

Vascular Calcifications in Homozygote Familial Hypercholesterolemia [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2008
Background— Patients with homozygous familial hypercholesterolemia (hmzFH) attributable to LDL receptor gene mutations have shown a remarkable increase in survival over the last 20 years. Early onset coronary heart disease (CHD) and calcific aortic valve stenosis are the major complications of this ...
Z, Awan, K, Alrasadi, G A, Francis, R A, Hegele, R, McPherson, J, Frohlich, D, Valenti, B, de Varennes, M, Marcil, C, Gagne, J, Genest, P, Couture   +11 more
openaire   +2 more sources

Narrative role of vitamin D receptor with osteoporosis and obesity in a sample of Egyptian females: a pilot study

Journal of Genetic Engineering and Biotechnology, 2021
Background Vitamin D receptor (VDR) is known as one of the cellular regulators for several metabolic pathways indicating its pivotal role in the pathological pathway of numerous diseases.
Nayera E. Hassan, Sahar A. El-Masry, Waheba Ahmed Zarouk, Ghada Nour Eldeen, Rehab M. Mosaad, Mahmoud A. S. Afify, Manal M. Aly, Aya Khalil   +7 more
doaj   +1 more source

Genetic polymorphism of ALDH2 in Indonesia’s Minang ethnic

Acta Biochimica Indonesiana, 2021
Background: In some people, acetaldehyde, a toxic product from ethanol oxidation, cannot be oxidized to acetate. The excess of acetaldehyde could cause facial flushing, dizziness, and hypertension when they consume ethanol.
Abdul Halim Sadikin, Irene Dian, Mukharjon Mukharjon, Rini Puspitaningtum, Septelia Inawati Wanandi   +4 more
doaj   +1 more source

Natural History of C282Y Homozygotes for Hemochromatosis [PDF]

Canadian Journal of Gastroenterology, 2002
PURPOSE: To study the clinical outcomes of subjects who are homozygous for the C282Y mutation of the hemochromatosis gene.SUBJECTS AND METHODS: All patients referred to a tertiary referral centre for hemochromatosis were included. The study also included 16 C282Y homozygotes detected in a population screening study.RESULTS: The study comprised 277 ...
John P Wojcik, Mark R Speechley, Ann E Kertesz, Subrata Chakrabarti, Paul C Adams   +4 more
openaire   +3 more sources

Fatty liver in H63D homozygotes with hyperferritinemia [PDF]

World Journal of Gastroenterology, 2006
To study the clinical correlates of the H63D mutation we have analysed the phenotype of H63D homo-zygotes identified through mutation analysis in a referral laboratory. A total of 366 blood samples referred for HFE analysis were screened for C282Y and H63D mutations. Four H63D homozygotes were identified.
Sebastiani, Giada, Wallace, D.F., Davies, S.E., Kulhalli, Vasu, Walker, A.P., Dooley, J.S.   +5 more
openaire   +4 more sources

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source

eQTL Meta‐Analysis Reveals Conserved and Population‐Specific Regulatory Variation Underlying Nutritional Trait Evolution and Domestication in Tomato

Advanced Science, EarlyView.
A comprehensive meta‐analysis of expression quantitative trait loci (eQTLs) across five diverse tomato populations reveals a high‐resolution atlas of transcriptional regulation and uncovers conserved and population‐specific regulatory architectures underlying fruit nutritional quality traits, including flavonoids, sugars, organic acids, carotenoids ...
Jiantao Zhao, Xin Wang, Jing Zhang, Ryan McQuinn, Je Min Lee, Itay Gonda, Ari Feder, Yimin Xu, Baike Wang, Qinghui Yu, Denise M. Tieman, Sanwen Huang, Harry Klee, James J. Giovannoni, Zhangjun Fei   +14 more
wiley   +1 more source

A High‐Throughput Live Imaging Platform to Investigate Circuit‐Dependent Regulation of Circadian Rhythms in Brain Tissue

Advanced Science, EarlyView.
Biological rhythms coordinate physiology, from genes to behavior. Study of circadian rhythms in brain tissue is constrained by limited throughput and spatial and temporal information quality. A new platform for high‐throughput, long‐term multiplexed fluorescent live imaging of circadian rhythms in brain slices is introduced.
Marco Ferrari, Natalie Ness, Julieta Acosta, Marco Brancaccio   +3 more
wiley   +1 more source