CONCLUSIONS: Critically ill Caucasian patients who had the AA genotype of IL-8 -251A/T had an increased risk of PaO(2)/FiO(2) <200. The AA genotype was associated with greater IL-8 mRNA expression than the AT or TT genotypes. 2012 The Authors. Respirology 2012 Asian Pacific Society of...
JAK2 V617F Genotype Is a Strong Determinant of Blast Transformation in Primary Myelofibrosis.doi:10.1182/blood.v120.21.2829.2829 G Barosi,V Poletto,M Massa,... 被引量: 0发表: 2012年 JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutationa...
The frequency of the Gilbert genotype was compared between the none/mild cohort and the severe cohort. UGT1A1 promoter genotype data were obtained for 76/80 cases. The overall frequency of the Gilbert genotype compared well with previously reported frequencies at 16%, with a frequency of 16% ...
As a clinical entity, Dubowitz syndrome will need continual re-evaluation and re-definition as its constituent phenotypes are determined. 展开 关键词: Humans Telomere Facies Growth Disorders Dyskeratosis Congenita Eczema Genotype Genetic Heterogeneity Frameshift Mutation Adult ...
RATIONALE: () has a genetic component, explaining susceptibility. ()-alpha polymorphisms have been associated with , but it is unclear if genotype influences clinical phenotype, protein expression, and bioactivity.: To determine if a functional polymorphism was important by assessing expression and acti...
INTRODUCTION Disorders caused by triplet expansions present unique challengesfor understanding and correlating the genotype with the clinicalphenotype. Currently, there is some confusion over ranges fornormal and disease alleles and rega... S Andrew,YP Goldberg,M Hayden - 《Human Molecular Genetics》 被...
Gilbert's syndrome, bilirubin level and UGT1A1*28 genotype in men of North-West region of Russia Background/Objectives. Gilbert's syndrome (GS) is a hereditary pathology that affects approximately 10% of the world's population. In most cases GS is asso... VI Andrei,VS Elena - 《Journal...
They were also in 73% and 88% lower risk of giving birth to vitamin D deficient [25(OH)D <30 nmol/l] neonates compared with Ff and ff mothers, respectively. These results suggest a protective role of maternal Fokl FF genotype against both maternal and neonatal vitamin D deficiency. ...
Since guppy colour patterns are often inherited faithfully from fathers to sons, it has been hypothesised that many of the colour trait genes must be physically linked to sex determining loci as a ‘supergene’ on the sex chromosome. Here, we phenotype and genotype four guppy ‘Iso-Y lines’...
作者: S Boyault,DS Rickman,AD Reyniès,C Balabaud,S Rebouissou,E Jeannot,A Hérault,J Saric,J Belghiti,D Franco 展开 摘要: Hepatocellular carcinomas (HCCs) are a heterogeneous group of tumors that differ in risk factors and genetic alterations. We further investigated transcriptome-genotype-...