نتایج جستجو برای: allele substitution effect

تعداد نتایج: 1808406  

Journal: :Human molecular genetics 2000
S Mammarella F Romano A Di Valerio B Creati D L Esposito R Palmirotta F Capani P Vitullo G Volpe P Battista F Della Loggia R Mariani-Costantini A Cama

The insulin receptor substrate-2 (IRS-2) is a major insulin signalling molecule. IRS-2 inactivation in mice induces a form of diabetes characterized by peripheral insulin resistance and reduced beta cell mass. We tested the hypothesis that a common non-conservative amino acid substitution of IRS-2 (G1057D) might interact with overweight in the pathogenesis of type 2 diabetes. The variant was ge...

Journal: :Cell 2003
Arkady Celeste Simone Difilippantonio Michael J. Difilippantonio Oscar Fernandez-Capetillo Duane R. Pilch Olga A. Sedelnikova Michael Eckhaus Thomas Ried William M. Bonner André Nussenzweig

Histone H2AX becomes phosphorylated in chromatin domains flanking sites of DNA double-strand breakage associated with gamma-irradiation, meiotic recombination, DNA replication, and antigen receptor rearrangements. Here, we show that loss of a single H2AX allele compromises genomic integrity and enhances the susceptibility to cancer in the absence of p53. In comparison with heterozygotes, tumors...

Journal: :Genetics 1994
J G Levine R M Schaaper D M DeMarini

We used colony probe hybridization and polymerase chain reaction/DNA sequence analysis to determine the mutations in approximately 2,400 4-aminobiphenyl (4-AB) +S9-induced revertants of the -1 frameshift allele hisD3052 and of the base-substitution allele hisG46 of Salmonella typhimurium. Most of the mutations occurred at sites containing guanine, which is the primary base at which 4-AB forms D...

2006
Javier Andrés Rafael Doménech Javier Ferri

The successful matching model developed by Mortensen and Pissarides seems to find its hardest task in explaining the cyclical movements of some key labor market variables such as the vacancy rate and the vacancy-unemployment ratio. Several authors have discussed mechanisms compatible with the matching technology that are able to deliver the kind of correlations observed in the data. In this pap...

Abdol Ali Danesh Ali Akbar Amirzargar, Behrouz Nikbin, Farideh Khosravi Mohammad Hossein Niknam

Background: Pulmonary tuberculosis (PTB) has recently become a major problem in developed countries especially in immune compromised HIV infected individuals. Cytokines, their genes and receptors have been implicated in the protective immunity, pathophysiology and development of tuberculosis.   Material & Methods: In the present study the genotype frequencies of a number of polymorphic genes co...

Journal: :Genetics and molecular research : GMR 2006
G A Lacorte M A Machado M L Martinez A L Campos R P Maciel R S Verneque R L Teodoro M G C D Peixoto M R S Carvalho C G Fonseca

Recent reports identified DGAT1 (EC 2.3.1.20) harboring a lysine to alanine substitution (K232A) as a candidate gene with a strong effect on milk production traits. Our objective was to estimate the frequency of the DGAT1 K232A polymorphism in the main Zebu and Taurine breeds in Brazil as well as in Zebu x Taurine crossbreds as a potential QTL for marker-assisted selection. Samples of 331 anima...

Journal: :Mutation research 2013
Peter D Simone Youri I Pavlov Gloria E O Borgstahl

Cellular nucleotide pools are often contaminated by base analog nucleotides which interfere with a plethora of biological reactions, from DNA and RNA synthesis to cellular signaling. An evolutionarily conserved inosine triphosphate pyrophosphatase (ITPA) removes the non-canonical purine (d)NTPs inosine triphosphate and xanthosine triphosphate by hydrolyzing them into their monophosphate form an...

Journal: :The Journal of Cell Biology 1990
P E Purdue Y Takada C J Danpure

We have previously shown that in some patients with primary hyperoxaluria type 1 (PH1), disease is associated with mistargeting of the normally peroxisomal enzyme alanine/glyoxylate aminotransferase (AGT) to mitochondria (Danpure, C.J., P.J. Cooper, P.J. Wise, and P.R. Jennings. J. Cell Biol. 108:1345-1352). We have synthesized, amplified, cloned, and sequenced AGT cDNA from a PH1 patient with ...

Journal: :International journal of environmental research and public health 2015
Lorena M Salto Liming Bu W Lawrence Beeson Anthony Firek Zaida Cordero-MacIntyre Marino De Leon

The alanine to threonine amino acid substitution at codon 54 (Ala54Thr) of the intestinal fatty acid binding protein (FABP2) has been associated with elevated levels of insulin and blood glucose as well as with dyslipidemia. The aim of this study was to characterize the effect of this FABP2 polymorphism in Mexican-Americans with type 2 diabetes (T2D) in the context of a three-month intervention...

The effect of monochloro and dichloro substitution into the ethyl portion on the pyrolysis of ethyl vinyl ether has been studied. This involved four possible monosubstituted derivatives and six disubstituted derivatives. For the monochloro derivatives, B- chloro substitution enhanced the rate constant while a- chloro substitution depressed it noticeably. For the dichloro derivatives, substi...

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