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The importance of MTHFR gene mutation detection in patient with
The importance of MTHFR gene mutation detection in patient with

... (2006), not only confirms the researchers conclusion that increased risk of RPL (recurrent pregnancy loss) is associated with MTHFR C677T genotype but also adds that the homozygosity of this variant is a risk factor for RLP regardless of the total homocysteine levels (HAGUE et al 2003). In some case ...
Cotranscriptional coupling of splicing factor recruitment and
Cotranscriptional coupling of splicing factor recruitment and

... DNA supercoiling that occurs during transcription27,28. Over 30 sites treatment. We verified by reverse-transcription (RT)-PCR that arsenite of topoisomerase I activity are distributed throughout the FOS gene treatment did not impair splicing of MYC pre-mRNA (data not and have been mapped with campt ...
Respiratory terminal oxidases in the facultative chemoheterotrophic
Respiratory terminal oxidases in the facultative chemoheterotrophic

... site of a respiratory electron transport chain. The two processes share several components, making cyanobacteria the only cells in which these two most important bioenergetic processes occur in the same cellular compartment. The cytoplasmic membrane, in contrast, does not contain a functional photos ...
CBS - Radboud Repository
CBS - Radboud Repository

... M T H FR , two regulating enzymes in hom ocysteine m etabo­ lism. In this study, we detected a novel G ^ A (D444N) mis­ sense m utation in the regulatory dom ain of the CBS protein, ...
Genes Practice Questions
Genes Practice Questions

... 46 If you were to sequence the DNA of a housefly, what bases would you find in its genome? ...
Fulltext PDF - Indian Academy of Sciences
Fulltext PDF - Indian Academy of Sciences

... Epialleles arise by gain or loss of cytosine methylation marks on genes. The changes occur due to the imperfection of the processes that establish and maintain the marks and on account of spontaneous and stress imposed removal of marks. Cytosine methylation pattern acquired in response to abiotic or ...
Information about mosaic Neurofibromatosis type 2
Information about mosaic Neurofibromatosis type 2

... vestibular schwannoma. Differentiating this diagnosis from either generalised NF2 or mosaic NF2 is clearly important because health monitoring and management will be different to reflect the differing health implications. The next step to clarify the diagnosis is usually to take a blood test to look ...
BMC Developmental Biology
BMC Developmental Biology

... Background: Expression of the mouse Delta-like 1 (Dll1) gene in the presomitic mesoderm and in the caudal halves of somites of the developing embryo is required for the formation of epithelial somites and for the maintenance of caudal somite identity, respectively. The rostro-caudal polarity of somi ...
Epigenetic Effects of Psychological Stressors in Humans
Epigenetic Effects of Psychological Stressors in Humans

... childhood sexual abuse led to hypermethylation of the promoter of NR3C1 gene in peripheral blood in comparison to methylation patterns of subjects without sexual abuse incidents during childhood (regarding the whole sample population). Notably, the severity and form of childhood abuse was also posit ...
In vivo evidence for the prokaryotic model of extended codon
In vivo evidence for the prokaryotic model of extended codon

... (Hui and de Boer, 1987). Unfortunately, residue A37 was shown to be important for the aminoacylation of tRNAfMet in E.coli (Meinnel et al., 1993), rendering this approach problematic in bacteria. Here we have chosen to test the extended base pairing model in the chloroplast, whose translational appa ...
Fkh5-deficient mice show dysgenesis in the caudal midbrain and
Fkh5-deficient mice show dysgenesis in the caudal midbrain and

Solving Even-Parity Problems using Multi Expression Programming
Solving Even-Parity Problems using Multi Expression Programming

... Fitness Assignment Process In this section it is described the way in which MEP individuals are translated into computer programs and the way in which the fitness of these programs is computed.. ...
cDNA cloning, expression and chromosomal localization of the
cDNA cloning, expression and chromosomal localization of the

... located on a protrusion of the protein (Eklund et al., 1991). So far, only two thioredoxins have been described in mammalian cells: Trx1 is a cytosolic protein with many different functions most of them depending on the redox active site (Holmgren, 1985) and Trx2 is a mitocondrial protein whose only ...
BMB 400 PART THREE
BMB 400 PART THREE

... isolate the gene for it, the family of mRNA sequences that can encode this amino acid sequence can be determined easily. Because of the degeneracy in the code, this family of sequences can be very large. Since one will likely use these sequences as hybridization probes or as PCR primers, the larger ...
Zygotic genes that mediate torso receptor tyrosine kinase
Zygotic genes that mediate torso receptor tyrosine kinase

... defined as those mutations that led to an increase in the proportion of embryos that formed cuticle with denticles (29 + 16% vs. 6% of control embryos) and a decrease in the fraction of embryos that formed empty sacs (4 + 3% vs. 38% of control embryos). (ii) A similar, but less dramatic, suppression ...
MEF2 activity during embryogenesis - Development
MEF2 activity during embryogenesis - Development

... for the MEF2 family in neuronal differentiation. The cell type distribution of MEF2 activity has been controversial. Some studies have reported that MEF2 DNAbinding activity is restricted to muscle cells (Gossett et al., 1989; Cserjesi et al., 1991; Yu et al., 1992; Breitbart et al., 1993), whereas ...
New Phytologist Supporting Information Notes S1  Populus trichocarpa
New Phytologist Supporting Information Notes S1 Populus trichocarpa

heredity and variation
heredity and variation

... markedly superior. From these descend a new variety. which represents so great an improvement that it soon displaces all other wheat varieties and changes the whole agriculture of a great area. Thus the variation, the novelty, itself becomes the norm, the stable condition, within which perhaps anoth ...
PDF
PDF

... Ppp1r15b mutation were indistinguishable from wild type. Consistent with the observations made in cultured MEFs, levels of phosphorylated eIF2␣ were only modestly elevated in tissues of Ppp1r15b⫺/⫺ embryos (data not shown), but in some tissues, such as liver, constitutively elevated levels of GADD34 ...
reprint - Oleg Igoshin
reprint - Oleg Igoshin

... order of genes within an operon may also affect noise [23]. Therefore, we hypothesize that noise-related effects contribute to the evolutionary maintenance of operons. Studies of several specific systems corroborate that correlative effects of transcriptional coupling alter posttranslational dynamic ...
CNVs vs. SNPs: Understanding Human Structural Variation in Disease
CNVs vs. SNPs: Understanding Human Structural Variation in Disease

... they  overlap  regulatory  elements,  they  can  also  affect  expression  levels  of  genes  that  they’re  associated  with.  And  in  fact,  some  recent  studies  have  shown  that  a  CNV  that  is  outside  of  a  gene  can  affect  the  gene’s  expression level that’s 2 million bases away or  ...
Ch 14 summary - OHS General Biology
Ch 14 summary - OHS General Biology

... o Each diploid organism has a pair of homologous chromosomes and, therefore, two copies of each gene. These are also called alleles of that gene. o These homologous loci may be identical, as in the true-breeding plants of the P generation. o Alternatively, the two alleles may differ, as in the F1 hy ...
שקופית 1
שקופית 1

... •When translated, the cryptic boCTP stretch does not prevent crucial aspects of hormone biosynthesis (the assembly of the heterodimer, formation of conformational-sensitive epitopes and the activation of the cognate receptor). However, this domain is missing the set of Olinked glycans and lacks the ...
Chapter 14 notes
Chapter 14 notes

... o Each diploid organism has a pair of homologous chromosomes and, therefore, two copies of each gene. These are also called alleles of that gene. o These homologous loci may be identical, as in the true-breeding plants of the P generation. o Alternatively, the two alleles may differ, as in the F1 hy ...
T-box-mediated control of the anabolic proline biosynthetic genes of
T-box-mediated control of the anabolic proline biosynthetic genes of

... chromosome is disrupted (Table 1), so that the measured TreA enzyme activity in the reporter strain reflects solely that encoded by the reporter fusion. Strain TRB0 (Table 1) carries a promoterless treA gene derived from plasmid pJMB1 inserted into the chromosomal amyE locus, and this strain was alw ...
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Site-specific recombinase technology



Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse
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