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Rapid and accurate cancer somatic mutation
Rapid and accurate cancer somatic mutation

... with clinical outcomes and prognosis. This application requires the flexibility to conduct current as well as retrospective studies. ...
LEADING ARTICLE Concurrent disruption of p16INK4a and
LEADING ARTICLE Concurrent disruption of p16INK4a and

... an important link between p53 and the p16INK4a-Rb pathway.29,30 Expression of ARF, which is induced by hyperproliferative stimuli like the Myc and E1A oncogenes31,32 but not by DNA damage,33,34 results in apoptosis or cell growth arrest in both G1 and G2.33,35 ARF and p16INK4a are encoded by a singl ...
Construction of plant BAC libraries This document
Construction of plant BAC libraries This document

... 14. Cut the center gel block transversely at two places to yield three blocks (referred to from bottom to top as “x”, “y”, and “z”) of approximately equal size (FIGURE 1g). Stain the end pieces with BET, partially reconstruct the gel using the various stained pieces, and photograph. The unstained p ...
View PDF - BloodMed
View PDF - BloodMed

... haemoglobin (Hb), Hb A2, the proportion of which was elevated in some carriers of thalassaemia. After several weeks spent knee deep in potato starch, we found that the Ghurka child's parents had increased Hb A2 levels and, hence, that she was likely to be homozygous for thalassaemia. Frank and I rus ...
Molecular and genetic characterization of genes involved in maize
Molecular and genetic characterization of genes involved in maize

... includes a phenotypic description and biochemical characterization of cuticular waxes from a large collection of maize glossy (gl) mutants. The biochemical characterizations of cuticular waxes were performed by Ann Perera. Joel Hansen was involved in some of the initial phases of characterization, m ...
Aggregate, composed, and evolved systems
Aggregate, composed, and evolved systems

... Setting the stage for modern conceptions of complexity In an early paper on ‘‘Complexity’’, Richard Levins (1970) makes a distinction between ‘‘aggregate’’, ‘‘composed’’, and ‘‘evolved’’ systems. This trichotomy is rich in methodological consequences for several philosophical issues. When philosophe ...
Methicillin-resistant Staphylococcus aureus (MRSA) Isolated from
Methicillin-resistant Staphylococcus aureus (MRSA) Isolated from

... Methicillin-resistant Staphylococcus aureus (MRSA) was identified as a nosocomial pathogen in the 1960s and it is associated with serious community-acquired and nosocomial diseases, particularly in immunocompromised patients. S. aureus also causes food poisoning and is the most important food-borne ...
CHAPTER ONE: INTRODUCTION AND LITERATURE REVIEW  1.1
CHAPTER ONE: INTRODUCTION AND LITERATURE REVIEW 1.1

Polygenic Disorders
Polygenic Disorders

... • The number of human eye color genes is unknown • Analysis will probably reveal many genes • Mice have more than 60 eye color genes 4. Polygenic and Multifactorial Disorders ...
The virulence plasmids of Salmonella
The virulence plasmids of Salmonella

... and VII, and in 2 of 9 strains of subspecies IV [11]. The spv region of subspecies I harbors five genes, spvRABCD, organized as a regulon and well conserved among serovars (Fig. 1). Sequencing of spv genes has provided no clues about their function, except in the case of SpvR, a 33-kDa polypeptide h ...
Analysis of single nucleotide polymorphisms in human
Analysis of single nucleotide polymorphisms in human

... variety of different sources. Here, we present a systematic approach to the analysis of SNPs in relation to various features on a genome-wide scale. We have performed a comprehensive analysis of 39,408 SNPs on human chromosomes 21 and 22 from The SNP Consortium (TSC) database, where SNPs are obtaine ...
Novel Regulation of Cardiac Metabolism and Homeostasis by the
Novel Regulation of Cardiac Metabolism and Homeostasis by the

... Abstract—Adrenomedullin (AM) was identified as a vasodilating and hypotensive peptide mainly produced by the cardiovascular system. The AM receptor calcitonin receptor-like receptor associates with receptor activity-modifying protein (RAMP), one of the subtypes of regulatory proteins. Among knockout ...
X chromosome inactivation- Review
X chromosome inactivation- Review

... region in Xist gene and is required for X inactivation  Model- Mutually exclusive binding of blocking factor to Xce on one X, and of initiator factor to Xist on other X  Marsupials and in mice extraembyonic tissues- paternal X always inactivated in females ...
An Update on the Hereditary Spastic Paraplegias: New Genes and
An Update on the Hereditary Spastic Paraplegias: New Genes and

... The investigators also looked to see how HSP-related proteins interacted within a protein network. They first extracted the subnetwork of all previously reported HSP genes from a protein network of all known human proteins (termed the HSP seed network). They then extracted the subnetwork containing ...
Optimizing selection for quantitative traits with information on an
Optimizing selection for quantitative traits with information on an

... on phenotypic information alone, resulted in greater genetic improvement in the longer term than selection on a combination of phenotypic information and information on identified genes (genotypic selection). Thus, selection criteria that are optimal in the short term may not lead to maximum respons ...
phenotypic correlations - Watson et al (v91)
phenotypic correlations - Watson et al (v91)

... Pomp & Lightfoot 2009, Chevillon et al 1997, Lenski 1988a/b, Kim Huh & Fay 2009). This means that phenotypic correlations can change as a result of evolution by natural selection (Delph et al 2011). Examples have been documented with respect to fore and hindlimb correlations in mammals (Young et al. ...
pdf
pdf

... sequences unrelated to most known species. Indeed, matches for these particular regions were only present amongst the magical taxa themselves, establishing this group as a new clade. But as we were using an abundantly widespread taxon-rich analyses, we discovered that this new clade is part of a mon ...
Presence of Escherichia coli carrying the EAST1 toxin gene in farm
Presence of Escherichia coli carrying the EAST1 toxin gene in farm

... EAST1 is the product of the astA gene that can be found on the chromosome and/or plasmids, in one or more copy [23]. EAST1 is a peptide of 38 amino acids with a molecular weight of 4.1 kDa. The four cysteines of the toxin are involved in the formation of two disulfide bridges [24]. Further studies a ...
Hepatocyte-Cfh -/- mice have reduced plasma FH and C3
Hepatocyte-Cfh -/- mice have reduced plasma FH and C3

... and C3 levels indicating that expression of FH by the targeted locus was impaired. These animals were also hypersensitive to renal injury during NTN which, based on the hepatocyte-Cfh-/- NTN phenotype, was likely a consequence of the reduced FH levels. Impaired expression of targeted genes due to th ...
SLOs - 3.3 Genetics small - Miss Jan`s Science Wikispace
SLOs - 3.3 Genetics small - Miss Jan`s Science Wikispace

CFTR Mutations in Congenital Absence of Vas Deferens
CFTR Mutations in Congenital Absence of Vas Deferens

... endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European pop ...
Histological classification and molecular genetics of meningiomas
Histological classification and molecular genetics of meningiomas

... progesterone receptor, but this remains unproven.4,5 Another well-defined cause in those with young onset and no sex predilection is neurofibromatosis type 2 (NF2). Meningiomas (besides schwannomas) are hallmark features of this autosomal dominant disorder caused by germline mutations in the NF2 gene ...
Dickkopf1 Is Required for Embryonic Head Induction
Dickkopf1 Is Required for Embryonic Head Induction

... inhibit the Spemann organizer during embryonic head induction. That this pathway is capable of antagonizing the head organizer is suggested by the overexpression of Wnts during gastrulation, which leads to microcephaly in Xenopus (Christian and Moon, 1993; McGrew et al., 1997) and possibly in mouse ...
Correlation of amino acid preference and
Correlation of amino acid preference and

... of problem, we did not investigate alternative classification methods. The SVM package that was used, SVMlight , was developed by Joachims (Joachims, 1999, 2002). This package is available for download at http://www.svmlight.joachims.org/. The format of the training data for this package is the clas ...
Deletions of NF1 gene and exons detected by multiplex ligation
Deletions of NF1 gene and exons detected by multiplex ligation

... transcript of approximately 12 kb.4–6 The NF1 gene product, neurofibromin, is a ubiquitously expressed protein, with structural and functional similarities to the mammalian GTPase-activating protein (GAP)-related protein family, a group of evolutionarily conserved proteins.7–9 The most highly conser ...
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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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