نتایج جستجو برای: amino acid substitution polymorphisms

تعداد نتایج: 919516  

Journal: :Annual review of genomics and human genetics 2006
Pauline C Ng Steven Henikoff

Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect protein function, they are believed to have the largest impact on human health compared with SNPs in other regions of the genome. Therefore, it is important to distinguish those nsSNPs that affect protein function from those that...

Journal: :Journal of research in veterinary medicine 2023

Increasing environmental temperatures due to climate change adversely affect livestock welfare and health. Moreover, increase the distribution survival of parasites infectious agents. Livestock diseases that cause significant economic losses are a worldwide concern. Toll-like receptor 4 (TLR4) is an ideal marker gene candidate, its critical role it plays in initiating immune response against pa...

Journal: :Molecular pharmacology 2002
Eleni Aklillu Mikael Oscarson Mats Hidestrand Brith Leidvik Charlotta Otter Magnus Ingelman-Sundberg

Cytochrome P450 1B1 (CYP1B1) is an extrahepatic enzyme of potential importance for the metabolism of estrogen and for metabolic activation of environmental carcinogens. We investigated an Ethiopian population for functional polymorphisms in the CYP1B1 gene using genomic DNA sequencing and detected three novel single nucleotide polymorphisms (SNPs). One of these (4360C-->G in exon 3) is present ...

Journal: :American journal of human genetics 2002
Koustubh Ranade Eric Jorgenson Wayne H-H Sheu Dee Pei Chao Agnes Hsiung Fu-tien Chiang Yii-der I Chen Richard Pratt Richard A Olshen David Curb David R Cox David Botstein Neil Risch

Resting heart rate is significantly associated with cardiovascular morbidity and mortality. However, the extent to which resting heart rate is genetically determined is poorly understood, and no genes have been found that contribute to variation in resting heart rate. Because signaling through the beta1 adrenergic receptor is a key determinant of cardiac function, we tested whether polymorphism...

Journal: :Proceedings of the National Academy of Sciences 2003

2016
Danesh Kadjbaf Maryam Keshvari Seyed Moayed Alavian Ali Pouryasin Bita Behnava Shima Salimi Leila Mehrnoush Pegah Karimi Elizee Heidar Sharafi

BACKGROUND Molecular studies have demonstrated that the hepatitis C virus (HCV) genotype and host genetics play predictive roles in the management of patients infected with HCV. OBJECTIVES This study aimed to investigate the HCV genotype, core amino acid (aa) 70 substitution, and polymorphisms near the IFNL3 gene (including rs12979860 and rs8099917) among Iranian patients with chronic hepatit...

Journal: :Drug metabolism and pharmacokinetics 2003
Daisuke Tsuzuki Hiroyuki Hichiya Yukie Okuda Shigeo Yamamoto Keietsu Tamagake Sumio Shinoda Shizuo Narimatsu

The effects of the substitution of glycine at position 42 with various other amino acid residues on the functions of CYP2D6 were studied using debrisoquine (DB) and bunitrolol (BTL) 4-hydroxylations as indices of drug-metabolizing enzymes. The substitution with hydrophobic amino acid residues such as valine and phenylalanine did not affect the enzymatic properties such as reduced CO-difference ...

Journal: :Antimicrobial agents and chemotherapy 2005
Masayuki Saijo Tatsuo Suzutani Shigeru Morikawa Ichiro Kurane

Foscarnet is widely used for the treatment of acyclovir-resistant herpesvirus infections, and foscarnet-resistant herpesvirus infections are a serious concern in immunocompromised patients. Twenty-seven single-plaque isolates of herpes simplex virus type 1 (HSV-1) resistant to foscarnet were selected from foscarnet- and acyclovir-sensitive HSV-1 strain TAS by exposure to foscarnet, and the DNA ...

Journal: :Proceedings of the National Academy of Sciences 1982

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