Novel Mutations of the CYP2A6 Gene in a Thai Population with Lowered Capacity of Coumarin 7-Hydroxylation

2002 ◽  
Vol 17 (2) ◽  
pp. 161-163 ◽  
Author(s):  
Kazuma Kiyotani ◽  
Hiroshi Yamazaki ◽  
Masaki Fujieda ◽  
Satoshi Daigo ◽  
Soisungwan Satarug ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Thai Population ◽  
Coumarin 7 ◽  
Cyp2a6 Gene

Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations

2020 ◽  
Vol 30 (10) ◽  
pp. 851-858
Author(s):  
Nalinee Pattrakornkul ◽  
Chupong Ittiwut ◽  
Ponghatai Boonsimma ◽  
Kanokwan Boonyapisit ◽  
Chaiyos Khongkhatithum ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Novel Mutations ◽  
Thai Population ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations

Non-viral aspects

2018 ◽  
Vol 1 (2) ◽  
pp. 37-39
Author(s):  
Roongruedee Chaiteerakij
Keyword(s):  
Autoimmune Hepatitis ◽  
Liver Diseases ◽  
Sclerosing Cholangitis ◽  
Promising Result ◽  
Primary Biliary Cholangitis ◽  
Second Line Therapy ◽  
Thai Population ◽  
The Past ◽  
Line Therapy ◽  
New Treatment

Autoimmuneliver diseases, particularly autoimmune hepatitis and primary biliary cholangitis,are not uncommon among the Thai population. This article summarizes main findings of studies of autoimmune liver diseases published during the past year, which included natural history and long-termoutcomes of primary biliary cholangitis treatment, a promising result of the new treatment for primary sclerosing cholangitis and outcomes of a second-line therapy of autoimmune hepatitis.

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

Associations of CYP2A6 Gene Polymorphism with Smoking Status Among Jordanians: Gender-Related Differences

2019 ◽  
Vol 20 (9) ◽  
pp. 765-770 ◽  
Author(s):  
Hana M. Hammad ◽  
Amer Imraish ◽  
Belal Azab ◽  
Al M. Best ◽  
Yousef S. Khader ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Genetic Polymorphism ◽  
Smoking Status ◽  
Hepatic Enzyme ◽  
Nicotine Metabolism ◽  
Significant Frequency ◽  
Cytochrome P450 2A6 ◽  
Study Population ◽  
Major Metabolic Pathway ◽  
Cyp2a6 Gene

Background: Cytochrome P450 2A6 enzyme (CYP2A6), an essential hepatic enzyme involved in the metabolism of drugs, is responsible for a major metabolic pathway of nicotine. Variation in the activity of polymorphic CYP2A6 alleles has been implicated in inter-individual differences in nicotine metabolism. Aims: The objective of the current study was to assess the association between the smoking status and the cytochrome P450 2A6 enzyme (CYP2A6) genotype in Jordanians. Methods: In the current study, 218 (117 Male and 101 female) healthy unrelated Jordanian volunteers were recruited. CYP2A6*1B, CYP2A6*4 and CYP2A6*9 were determined and correlated with subject smoking status. Results: *1A/*1A was the most common genetic polymorphism in the overall study population, with no significant frequency differences between smokers and non-smokers. When the population was divided according to gender, only male smokers showed a significant correlation between genotype and smoking status. Considering the CYP2A6*9 genotype, the results showed differences in distribution between smokers and non-smokers, but only women showed a significant association between CYP2A6*9 allele genotype and smoking status. Conclusion: The results of this study show that there is a significant association between CYP2A6*9 genotype and smoking status. They also show that CYP2A6 genotype is significantly influenced by gender.

ChemInform Abstract: Synthesis and Antimicrobial Activity of Coumarin 7-Substituted Cephalosporins and Sulfones.

ChemInform ◽  
2010 ◽  
Vol 29 (50) ◽  
pp. no-no
Author(s):  
L. BONSIGNORE ◽  
F. COTTIGLIA ◽  
H. ELKHAILI ◽  
F. JEHL ◽  
S. M. LAVAGNA ◽  
...  
Keyword(s):  
Antimicrobial Activity ◽  
Coumarin 7

scholarly journals Correction to: Neonatal Diabetes Mellitus: Novel Mutations

2021 ◽  
Author(s):  
Sapna Nayak ◽  
Aditya Narayan Sarangi ◽  
Saroj Kumar Sahoo ◽  
Pragya Mangla ◽  
Manoranjan Tripathy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Novel Mutations

scholarly journals Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

2000 ◽  
Vol 41 (3) ◽  
pp. 433-441
Author(s):  
Margaret E. Brousseau ◽  
Ernst J. Schaefer ◽  
Josee Dupuis ◽  
Brenda Eustace ◽  
Paul Van Eerdewegh ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Atp Binding Cassette
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