Results 21 to 30 of about 43,378 (245)
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
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Suppression of CDA II expression in a homozygote [PDF]
British Journal of Haematology, 1999 The CDAN2 gene, responsible for congenital dyserythropoietic anaemia, type II (CDA II), was recently mapped to 20q11.2. We report data on an additional member of a previously studied CDA II family. This member had always been regarded as haematologically normal.
Beauchamp Nicoud A +12 more
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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 +12 more
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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 +7 more
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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 +4 more
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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 +11 more
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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 +4 more
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Variations in GLP-1R rs2268641 increase risk of diabetic nephropathy in China [PDF]
Jichu yixue yu linchuangObjective To investigate the association between glucagon-like peptide-1 receptor (GLP-1R) gene polymorphism (rs2268641) and the incidence of diabetic nephropathy (DN) in patients with type 2 diabetes mellitus (T2DM). Methods A total of 490 T2DM patients
HE Ke, YANG Fan, LU Xiwan, HU Yun
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BMC Medical Genetics, 2019 Background Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk.
Gui-Ping Xu +5 more
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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 +5 more
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