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Bio-session package - Social Science Genetic Association Consortium
Bio-session package - Social Science Genetic Association Consortium

... with SNPs that are genotyped on ‘‘SNP chips.’’ Because there are many more segregating variants in the population than those genotyped in GWASs, it is unlikely, but not impossible, that a mutation is genotyped itself, and so its effect usually will be detected through an association with a genotyped ...
phenotype describes a new mutation affecting
phenotype describes a new mutation affecting

... Clark, 1987). Abscisic acid (ABA) plays an important role during the maturation stage of embryogenesis. For example, it prevents precocious germination and is involved in the regulation of several genes (Davies and Jones, 1994). In maize, mutations affecting ABA metabolism are recognized because the ...
Cytokinin and auxin have a crucial role in the control of this balance.
Cytokinin and auxin have a crucial role in the control of this balance.

Novel pathogen-specific primers for the detection of Agrobacterium
Novel pathogen-specific primers for the detection of Agrobacterium

... (SZEGEDI and BOTTKA, 2002). Although an improved virCspecific primer pair detected some A. vitis strains (KAWAGUCHI et al. 2005), comprehensive studies including the various opine groups have not been published. Similarly, the virD2 specific primers (HAAS et al. 1995) detect pathogenic A. tumefaciens ...
Mendel and modern genetics: the legacy for today
Mendel and modern genetics: the legacy for today

... term, and that proponents of Mendelism, from Bateson onward, had read much into Mendel’s work that was not part of his original formulation. Similar re-evaluations have subsequently been offered by others [9– 11]. The gist of these various reinterpretations is that: (1) the primary motivation for Me ...
Mendel and modern genetics: the legacy for today
Mendel and modern genetics: the legacy for today

... term, and that proponents of Mendelism, from Bateson onward, had read much into Mendel’s work that was not part of his original formulation. Similar re-evaluations have subsequently been offered by others [9– 11]. The gist of these various reinterpretations is that: (1) the primary motivation for Me ...
Differentiated thyroid cancer: growth factors, oncogenes
Differentiated thyroid cancer: growth factors, oncogenes

... genes have been investigated by numerous authors (2-5). In the countries with low iodine intake, until the end of 60s, such as Germany and Austria, the incidence of thyroid diseases is still high in the elderly, who lived for a longer period of iodine deficiency (Austria: 34.3% in women and 21.3% in ...
SERIES ‘‘GENETICS OF ASTHMA AND COPD IN THE POSTGENOME ERA’’
SERIES ‘‘GENETICS OF ASTHMA AND COPD IN THE POSTGENOME ERA’’

... identified genes strongly associated with asthma that are preferentially expressed in the airway epithelium and underlying mesenchyme, respectively. Also of increasing importance is the recognition that genes associated with asthma and atopy have important interactions with the environment through e ...
Summary of Some Ideas - NYU Computer Science Department
Summary of Some Ideas - NYU Computer Science Department

... by a transcriptional activator/factor, which attaches to a promoter (a specific sequence adjacent to the gene). • Regulatory sequences such as silencers and enhancers control the rate of transcription ...
Genetic regulation of cold-induced albinism in
Genetic regulation of cold-induced albinism in

... all tetrapyrroles (Beale, 1999; Joyard et al., 2009). Once synthesized, 5-ALA is subject to a sequential series of condensation reactions to produce protoporphyrin IX (ProtoIX). At this point, ProtoIX is diverted toward either chlorophyll or haem biosynthesis by the chelation of magnesium or ferrous ...
Evolutionary dynamics of CRISPR gene drives
Evolutionary dynamics of CRISPR gene drives

... overcome by the discovery and development of the CRISPR/Cas9 genome editing system (23– 27). Briefly, Cas9 is an endonuclease whose target site is prescribed by an independently expressed guide RNA (gRNA) via a 20-nucleotide protospacer sequence. Because virtually any position in a genome can be uni ...
arXiv:0708.2724v1 [cond-mat.other] 20 Aug 2007
arXiv:0708.2724v1 [cond-mat.other] 20 Aug 2007

... However, triphosphate monomers are used in chain extension reactions. The formation of the double-stranded (ds) DNA helix occurs by the Watson-Crick base pairing, where A pairs with T, and G pairs with C. One of the most important properties of polynucleotides is that they are charged in solution. T ...
to view
to view

... to understand different topics of NCERT. Try to read NCERT Biology book daily and give equal emphasis on revising learned chapters. Proper revision is mandatory to secure good marks in Biology. Try to solve objective questions of Biology more and more to attempt 1 mark question in the board exam. Yo ...
Role of the distal convoluted tubule in renal Mg handling: molecular
Role of the distal convoluted tubule in renal Mg handling: molecular

... 0.36 mmol/L, OMIM 613882), Stuiver et al. identified two mutations in the CNNM2 gene: the heterozygous deletion c.117delG and the heterozygous missense mutation c.1703C>T [45]. The deletion c.117delG (p.Ile40SerfsX15) leads to a truncated protein with uncharacterized function, whereas the missense mu ...
Histological classification and molecular genetics of meningiomas
Histological classification and molecular genetics of meningiomas

... (mixed) meningiomas combine features of both subtypes and usually present with extensive whorl formation, wherein tumour cells wrap around each other forming concentric layers. The latter have a tendency to hyalinise and calcify to form the characteristic concentric calcifications known as psammoma ( ...
In vitro fertilization (IVF) in mammals: epigenetic and developmental
In vitro fertilization (IVF) in mammals: epigenetic and developmental

... environment [13, 14]. The major concerns are related to the possible effects that ART may have on normal development in humans. It has been calculated that in developed countries 1–3  % of children are conceived using these techniques [15]. Fertilization of eutherian animals occurs in the maternal o ...
Abundant RNA editing sites of chloroplast protein
Abundant RNA editing sites of chloroplast protein

... The evolutionary pattern of RNA editing is another interesting topic. Some scholars believe that the RNA editing phenomenon is a relic of ancient RNA world and is involved in primordial error correction, such as repairing UV damage at the transcript level. Others argue that the editing system produc ...
abnormalities of chromosome structure
abnormalities of chromosome structure

Product description P048-C1-0315 LMNA-MYOT - MRC
Product description P048-C1-0315 LMNA-MYOT - MRC

... The P048-C1 probemix contains probes for all 12 exons of the LMNA gene. Two probes are present for exon 1. This probemix furthermore contains probes for all exons of the ZMPSTE24, MYOT and CAV3 genes. Finally, 9 reference probes are included in this probemix, detecting several different autosomal ch ...
The molecular basis of human retinal and vitreoretinal
The molecular basis of human retinal and vitreoretinal

... molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions. Although belonging to the group of orphan diseases, they affect probably more than two million people worldwide. Most excitingly, treatment of a particular form of congenital retinal degenera ...
Genomic imprinting in the development and evolution of
Genomic imprinting in the development and evolution of

... (2) Regions with imprinting effects and linkages to psychosis ........................................................ ( a ) 1q42 and the DISC1 gene ..................................................................................................... ( b ) 1p36 and the TP73 gene .................... ...
New variants of the tet(M) gene in Clostridium
New variants of the tet(M) gene in Clostridium

... to that of E. faecalis DS16. This analysis was not possible in the other two isolates harbouring tet(M)1 for the hypothesized presence of two Tn916-like elements in the chromosome. However, the sequencing of the tet(M) region in these strains revealed that there was no superimposition of different P ...
Warren, ST and Ashley, CT: Triplet repeat expansion mutations: The example of fragile X syndrome. Annual Review of Neuroscience 18:77-99 (1995).
Warren, ST and Ashley, CT: Triplet repeat expansion mutations: The example of fragile X syndrome. Annual Review of Neuroscience 18:77-99 (1995).

... sequence revealed a single major open reading frame that remained open at the 5' end and encoded a predicted polypeptide of 657 amino acids. The CGG repeat potentially displaying length variation in fragile X patients was con­ tained within the 5' portion of the open reading frame where it was initi ...
The Zn Finger protein Iguana impacts Hedgehog signaling by
The Zn Finger protein Iguana impacts Hedgehog signaling by

... digit patterning (Tabin and McMahon, 2008), patterning of neurons in the neural tube (Dessaud et al., 2008), and has been implicated in diseases including cancer (Jiang and Hui, 2008). In recent years, primary cilia have been demonstrated to be required for Hh signaling in vertebrates (Eggenschwiler ...
Regulatory Motifs in DNA Sequences
Regulatory Motifs in DNA Sequences

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Therapeutic gene modulation

Therapeutic gene modulation refers to the practice of altering the expression of a gene at one of various stages, with a view to alleviate some form of ailment. It differs from gene therapy in that gene modulation seeks to alter the expression of an endogenous gene (perhaps through the introduction of a gene encoding a novel modulatory protein) whereas gene therapy concerns the introduction of a gene whose product aids the recipient directly.Modulation of gene expression can be mediated at the level of transcription by DNA-binding agents (which may be artificial transcription factors), small molecules, or synthetic oligonucleotides. It may also be mediated post-transcriptionally through RNA interference.
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