Results 271 to 280 of about 390,492 (308)

Genetic Variants in the Promoter Region of the IGF-I Gene as a Reason for Short Stature

Journal of Pediatric Endocrinology and Metabolism, 2006
DNA obtained from the blood cells of 88 adolescent patients with short stature, with low blood serum IGF-I concentrations, normal growth hormone (GH) secretion and normal GH receptor (GHR) structure, was analyzed in the promoter region for the IGF-I gene. A total of 24 genetic variants was detected in the DNA of 13 patients. An attempt was also made to
A, Kedzia, A, Obrepalska-Steplowska, J, Pacholska-Bogalska, M, Obara-Moszyńska, E, Korman, A, Goździcka-Józefiak   +5 more
openaire   +2 more sources

Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects

Gene, 2012
Congenital heart disease (CHD) is the most common human birth defect. The morbidity and mortality of CHD patients are significantly higher than normal population even after surgical correction of cardiac defects, which is likely caused by genetic defects. To date, genetic causes for CHD remain largely unknown.
Yanli, Qiao, Hongxin, Wanyan, Qining, Xing, Wen, Xie, Shuchao, Pang, Jiping, Shan, Bo, Yan   +6 more
openaire   +2 more sources

Genetic analysis of the promoter region of the GATA4 gene in patients with ventricular septal defects

Translational Research, 2012
Ventricular septal defects (VSDs) are the most common type of congenital heart diseases (CHDs). To date, the genetic causes for sporadic VSDs remain largely unknown. GATA transcription factor 4 (GATA4) is a zinc-finger transcription factor that is expressed in developing heart and adult cardiomyocytes.
Guanghua, Wu, Jiping, Shan, Shuchao, Pang, Xiaodan, Wei, Hao, Zhang, Bo, Yan   +5 more
openaire   +2 more sources

The effect of genetic variation on promoter usage and enhancer activity

Nature Communications, 2017
The identification of genetic variants affecting gene expression, namely expression quantitative trait loci (eQTLs), has contributed to the understanding of mechanisms underlying human traits and diseases. The majority of these variants map in non-coding
Marco Garieri, Olivier Delaneau, Federico Santoni   +2 more
exaly   +2 more sources

A genetic variant in the promoter region of miR-877 is associated with an increased risk of hepatocellular carcinoma

Clinics and Research in Hepatology and Gastroenterology, 2020
Genome wide association study has identified chromosome 6p21.33 as a risk locus of hepatocellular carcinoma (HCC). MiR-877 is located on this region, functioning as a tumor suppressor. The aim of this study was to investigate the association between rs1264440 in the promoter of miR-877 and HCC risk.A total of 352 HCC patients and 359 age, gender ...
Hongtu, Wang, Bo, Wang, Tao, Wang, Ruixuan, Fan   +3 more
openaire   +2 more sources

Identification and genetic effects of a novel polymorphism in the distal promoter region of porcine leptin gene

Molecular Biology Reports, 2010
Leptin is a hormone expressed mainly in white adipose tissue. It acts on satiety centers in the hypothalamus, and by binding to particular receptor OB-Rb, plays a crucial role in controlling appetite, body weight, fat amount and total energy balance. In this study, a novel single nucleotide polymorphism (SNP), i.e., SNP G-2863A, was identified in the ...
Dongjun, Liu, Yue, Hu, Xiaohui, Yang, Yuan, Liu, Shudong, Wei, Yunliang, Jiang   +5 more
openaire   +2 more sources

Association between genetic polymorphisms at promoter region of the catalase gene and risk of dependency to heroin

Psychiatry Research, 2017
• Genetic polymorphisms A-21T and C-262T at promoter region of catalase ( CAT ) are functional.
Majede, Rezaei, Mohammad Rashid, Khalighinasab, Mostafa, Saadat   +2 more
openaire   +2 more sources

A Genetic Variant in the Promoter Region of Toll-Like Receptor 9 and Cervical Cancer Susceptibility

DNA and Cell Biology, 2012
The Toll-like receptors (TLRs) are important for the innate immune system by recognizing pathogen-associated molecular patterns expressed in infectious agents. E6 and E7 protein from HPV16 suppress the host immune response by regulating the TLR9 transcript.
Xiaojun, Chen, Sumin, Wang, Li, Liu, Zengyan, Chen, Fulin, Qiang, Yanjing, Kan, Yan, Shen, Jiangping, Wu, Hongbing, Shen, Zhibin, Hu   +9 more
openaire   +2 more sources

Genetic organization and sequence of the promoter-distal region of the tcp gene cluster of Vibrio cholerae

Gene, 1993
The nucleotide sequence of the promoter distal region of the major operon associated with biosynthesis of TCP, the toxin coregulated pilus of Vibrio cholerae has been determined. The genes tcpR, tcpD, tcpS, tcpT, tcpE and tcpF are organized to permit translational coupling and are followed by an inverted repeat structure which is likely to act as a ...
M A, Ogierman, S, Zabihi, L, Mourtzios, P A, Manning   +3 more
openaire   +2 more sources

Genetic variants in the promoter region of the KLF3 gene associated with fat deposition in Qinchuan cattle

Gene, 2018
Krüppel-like factor 3 (KLF3), a member of the Krüppel-like factor (KLF) family, plays an important role in adipogenesis and lipid metabolism. The aim of this study was to investigate whether KLF3 could be used as a candidate gene in the breeding of cattle. The expression pattern of bovine KLF3 gene revealed that it was highly expressed in abdominal fat
Hongfang, Guo, Sayed Haidar Abbas, Raza, Nicola M, Schreurs, Rajwali, Khan, Dawei, Wei, Li, Wang, Song, Zhang, Le, Zhang, Sen, Wu, Irfan, Ullah, Seyed Mahdi, Hosseini, Linsen, Zan   +11 more
openaire   +2 more sources