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Processing the RefSeq and CCDS Annotation Datasets Using the SAS System: Creation of Gene Reference
Processing the RefSeq and CCDS Annotation Datasets Using the SAS System: Creation of Gene Reference

... (Line 45). Finally, we designate this region as the “Promoter”, but it could also be called “5’ genomic”. After we have acquired the promoter, the data step will now be within the region designated as the gene, that is beyond TXSTART (or TXEND, for minus-strand genes). The first and last exons are h ...
Genome-wide characteristics of sequence coverage by next
Genome-wide characteristics of sequence coverage by next

... “The failure of the human genome” “despite more than 700 genome-scanning publications and nearly $100bn spent, geneticists still had not found more than a fractional genetic basis for human disease “ Manolio et al., Nature, 2009 “The most likely explanation for why genes for common diseases have no ...
The disease characteristics of different strains of scrapie in Sinc
The disease characteristics of different strains of scrapie in Sinc

... to that in C57BL mice. However, there were clear differences between these two mouse strains and between the two FI crosses, V M x V M - S i n c s7 and V M x C57BL, particularly with the 79A, 139A and 22A scrapie strains. These differences were within the range previously reported for unrelated mous ...
Seed Dormancy and Germination
Seed Dormancy and Germination

... a seed. Since dormancy is regulated at different developmental phases, in interaction with environmental factors, it is difficult to detect when the genetic and physiological differences are established. This difficulty arises because all assays are based on seed germination, which is the result of ...
Mitochondrial diseases and the role of the yeast models
Mitochondrial diseases and the role of the yeast models

... carry potentially relevant single-nucleotide polymorphisms (SNPs), which lead to the question as to whether these changes can determine additive or cooperative effects on the pathomechanisms, ultimately leading to the different clinical phenotypes. Yeast is a useful tool to answer these questions, a ...
Slide 1
Slide 1

... From these results, Mendel drew two conclusions. His first conclusion formed the basis of our current understanding of inheritance. An individual’s characteristics are determined by factors that are passed from one parental generation to the next. ...
Dissolving Dominance
Dissolving Dominance

... Mendel introduced the term dominirende (translated variously as 'dominating' or 'dominant') to refer to characters "which are transmitted entire, or almost unchanged in the hybridization" of two contrasting parental types (Mendel 1866, §4; see also §11). The other traits, of course, he termed recess ...
Product description P003-D1 MLH1-MSH2-v01 - MRC
Product description P003-D1 MLH1-MSH2-v01 - MRC

... Not all abnormalities detected by MLPA are pathogenic. In some genes, intragenic deletions are known that result in very mild or no disease (Schwartz et al. 2007). For many genes, more than one transcript variant exists. Copy number changes of exons that are not present in all transcript variants ma ...
BIOL-210 BIOL-211 BIOL-215 BIOL-220 BIOL-223 BIOL
BIOL-210 BIOL-211 BIOL-215 BIOL-220 BIOL-223 BIOL

... Concept 3: Complex systems of tissues and organs sense the internal and external environments of multicellular organisms, and through integrated functioning, maintain a stable ...
Deep Insight Section RET point mutations in Thyroid Carcinoma
Deep Insight Section RET point mutations in Thyroid Carcinoma

... The human RET gene maps on 10q11.2 and is composed by 21 exons with an estimated size of about 55 kb (Pasini et al., 1995). The RET gene encodes for a tyrosine kinase transmembrane receptor (Takahashi et al., 1988) characterized by 3 different domains: a) the extracellular domain, which contains the ...
org.Dr.eg.db
org.Dr.eg.db

... assigned in the literature, users are cautioned that this map may produce multiple matching results for a single gene symbol. Users should map back from the entrez gene IDs produced to determine which result is the one they want when this happens. Because of this problem with redundant assigment of ...
Consensus Statement on Factor V Leiden Mutation Testing
Consensus Statement on Factor V Leiden Mutation Testing

... Page 1 of 12 ...
Practice final key
Practice final key

... A benign ovarian teratoma is a mass of differentiated tissues which occasionally develops in the ovary without fertilization. Such a teratoma develops in a patient who is heterozygous Aa for a locus closely linked to the centromere of a chromosome and heterozygous Bb for another locus weakly linked ...
Genetics of Hemophilia
Genetics of Hemophilia

... son or a daughter, who is a heterozygote. Examples are type 2A or 2B or 2M von Willebrand disease. Type 1 VWD also is autosomal dominant but is sometimes hard to trace through a family because the gene is not always fully expressed. Other examples of autosomal dominant disorders include the genetic ...
ABSTRACT Title of Document: PROGRAMMED
ABSTRACT Title of Document: PROGRAMMED

... in the cell, but it certainly isn’t simple. After genes are transcribed into mRNAs, the ribosome is responsible for converting the information contained in nucleotide sequences to amino acids to form proteins. Ribosomes are thus essential to all forms of life. The ribosome is a complex machine made ...
Virp1 Is a Host Protein with a Major Role in Potato - IMBB
Virp1 Is a Host Protein with a Major Role in Potato - IMBB

... Viroids are small, circular, single-stranded RNA molecules that, while not coding for any protein, cause several plant diseases. Viroids rely for their infectious cycle on host proteins, most of which are likely to be involved in endogenous RNA-mediated phenomena. Therefore, characterization of host ...
SPA1: A New Genetic Locus Involved in Phytochrome A
SPA1: A New Genetic Locus Involved in Phytochrome A

... signal downstream. One powerful approach to this problem is the isolation of mutants defective in normal light signaling (reviewed in Deng, 1994; Millar et al., 1994; McNellis and Deng, 1995; Quail et al., 1995; Chory et al., 1996; von Arnim and Deng, 1996). Several types of screens for mutants have ...
The Homothorax homeoprotein activates the nuclear localization of
The Homothorax homeoprotein activates the nuclear localization of

... and Morata 1995, 1996). The third level is at the subcellular localization of Exd. Exd is not located in the nucleus in all cells. The distribution of nuclear Exd (Aspland and White 1997) correlates with the functional requirement for exd, indicating that only the nuclear Exd can exert its function. ...
Genetics of asthma and atopy Koppelman, Gerard
Genetics of asthma and atopy Koppelman, Gerard

... coworkers hypothesised that bacterial signals play a functional role in the maturation of the TH-1 type immune response, thereby suppressing the TH-2 type response, which may produce an atopic phenotype. Microbial products, such as lipopolysaccharides (LPS), can provide activation signals for TH-1 m ...
Mutations in the PERIANTHIA gene of Arabidopsis specifically alter
Mutations in the PERIANTHIA gene of Arabidopsis specifically alter

... 5 petals, 5 stamens, and 2 carpels (Fig. 1B,D). There is, however, greater variation in organ number in pan than in wild type. The organ number ranges from 4 to 7 in the first three whorls, and 1 to 3 in the fourth whorl. Both pan-1 and pan-2 have a very similar phenotype, except that pan-2 flowers ...
Chapter 4
Chapter 4

... The Human Genome Variation Society publishes nomenclature guidelines [den Dunnen et al., 2000] for unambiguous sequence variant descriptions used in clinical reports, literature and genetic databases. To check and interpret these descriptions the Mutalyzer program suite [Wildeman et al., 2008] has b ...
Molecular Biology and Applied Genetics
Molecular Biology and Applied Genetics

... Molecular genetics, or molecular biology, is the study of the biochemical mechanisms of inheritance. It is the study of the biochemical nature of the genetic material and its control of phenotype. It is the study of the connection between genotype and phenotype. The connection is a chemical one. Con ...
Common Quantitative Trait Loci for Alcohol
Common Quantitative Trait Loci for Alcohol

... resulting supernatant extracts were lyophilized and stored at 270°C for less than 2 wk before radioimmunoassay. Standard double antibody radioimmunoassays (were used to measure NT concentrations (Erwin and Jones, 1989; Erwin et al., 1990b). Details of the procedures and the mean values for NT levels ...
Charles K. Wairuri , Jacquie E. van der Waals
Charles K. Wairuri , Jacquie E. van der Waals

... conserved in the tad loci of different bacteria (Planet et al. 2001; Tomich et al. 2007); (iv) the ...
6- COLONIC POLYP2016-12-18 19:354.2 MB
6- COLONIC POLYP2016-12-18 19:354.2 MB

... What types of mutations are likely to be present in such a lesion? There is progressive accumulation of mutations during the conversion of adenomas to carcinomas. In this scheme, mutations of the APC gene (resulting in homozygous loss of this tumor suppressor gene) are believed to occur first. (Pat ...
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NEDD9

Neural precursor cell expressed developmentally down-regulated protein 9 (NEDD-9) is a protein that in humans is encoded by the NEDD9 gene. NEDD-9 is also known as enhancer of filamentation 1 (EF1), CRK-associated substrate-related protein (CAS-L), and Cas scaffolding protein family member 2 (CASS2). An important paralog of this gene is BCAR1.
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