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Alu repeat analysis in the complete human genome: trends and
Alu repeat analysis in the complete human genome: trends and

... units separated by a poly ‘A’ stretch. The monomers, homologous to 7SL RNA, are absolutely identical except for a 30 bp insertion in the right monomer (Jelinek et al., 1980; Ullu and Tschudi, 1984). The 3 end of the Alu element has a long stretch of adenine residues, and is flanked by 4–10 bp of di ...
Cardiovascular proteomics
Cardiovascular proteomics

... (eg, TnI, beta-adrenergic 1 receptor) • if one turns out to be important in disease, create a drug against it Proteomics approach • provides an immense amount of information on many, many proteins ...
SALSA MLPA probemix P222-A2 LCA mix-2 - MRC
SALSA MLPA probemix P222-A2 LCA mix-2 - MRC

... probe is specific for the wild type sequence of the c.2991+1655AG mutation and the other probe detects a sequence at a short distance from the mutation specific probe. This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences of the aforementioned genes in a D ...
Variant Effect Predictor Web interface Documentation
Variant Effect Predictor Web interface Documentation

... When you have added more than one filter, you are given the option to match any or all of the rules shown; click the "Update" button once you have made your selection. Certain columns when selected have special features: Location - for this column you may enter genomic coordinates in the format "chr ...
PDF
PDF

... DEVELOPMENT ...
PHI-Canto video tutorial slides - PHI-base
PHI-Canto video tutorial slides - PHI-base

... curation team ...
1q21 microdeletions
1q21 microdeletions

... chromosomes of both parents. The parents’ chromosomes should be checked even if they are themselves completely healthy with no developmental problems at all. If one parent has the same microdeletion, it has been inherited. If both parents have normal chromosomes, the 1q21.1 microdeletion is a new oc ...
1q21 microdeletions
1q21 microdeletions

... million base pairs, or one so-called megabase (Mb) of DNA. Base pairs are the chemicals in DNA that form the ends of the ‘rungs’ of its ladder-like structure. Chromosome 1 has around 247 Mb in total and band 1q21.1 alone contains around 5.4 Mb. In a class 1 deletion, DNA is typically missing between ...
Genetic interactions between scribbler, Atrophin and
Genetic interactions between scribbler, Atrophin and

... presence and activity of specific regulatory transcription factors which bind in a sequencespecific manner to adjacent cis-regulatory elements. These regulatory transcription factors can act either as activators and promote transcription or as repressors and inhibit it. To function as repressors, th ...
Rapid Diversification of RNase A Superfamily Ribonucleases from
Rapid Diversification of RNase A Superfamily Ribonucleases from

... these sequences were also identified by PCR amplification but not reported in the studies performed by Liao et al. (2000). The amino terminal “Q” of these novel sequences has been inferred based on similarity to the amino acid sequence of rc-RNase (rc-RN), whose terminus was determined directly via ...
Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a
Early Onset of Severe Familial Amyotrophic Lateral Sclerosis with a

... Motoneuron disease in mice with combined CNTF and SOD-1 gene defects. A, CNTF genotyping of mice. Ethidium bromide–stained 2% agarose gel reveals bands of 97 bp for the wild-type allele (CNTF⫹/⫹) and 1.197 bp for the mutated allele (CNTF⫺/⫺). Heterozygous mice (CNTF⫹/⫺) show both bands. “M” denotes ...
Asymmetries in Retrieval of Gene Function Information
Asymmetries in Retrieval of Gene Function Information

... of the source followed by a slash followed by an accession number and can be searched with one or both components, e.g., genbank [si], AF001892 [si], genbank/AF001892 [si]. The SI field and the Entrez sequence database links are not linked. The PubMed links to these databases are created from the re ...
Supplementary Materials and methods (doc 154K)
Supplementary Materials and methods (doc 154K)

... assessed. We used the protocol previously described by Itoh et al. for the mobilization of plasmid pNI111 by RP4 (Itoh et al 1991). P. aeruginosa PAO1-GFP (resistant to gentamycin and chloramphenicol) was used as a recipient strain. Mating experiments were performed three independent times on LB aga ...
PDF
PDF

... of tilt' W'llC pairs. illld that c\omini1l1t g('lleS lind !L gl'cllter effect in tlU',;C' gt' I1otypt's thiUl they did in genotypes hn\'ing nt least one gene pill I' 1'('('(Is;~,in'. Frolll titblt' :2 it ('lInbe S('C'Il tIutt 21.5 pcrC'ent of the plnnts; of Porter and 9,1 IWrCt'nL or tht, plants of ...
Amber Extract
Amber Extract

... People used to gather craft and trade amber. The first use of amber in the Baltic Sea region can be traced back to Stone Age. Amber amulet made of Baltic amber was found in Egyptian tombs. Baltic countries have about 100 Neolithic burial sites in which amber is included. Amber has been credited with ...
Ophthalmic Genetics Update Genetics and Genomics of
Ophthalmic Genetics Update Genetics and Genomics of

... which encodes the unique N-terminal domain that is required both for proper enzyme activation and for substrate recognition and binding.45 Abnormalities were not observed in the highly conserved C- terminal of the protein where the catalytic domains are located. The risk allele G of SNP rs1048661 (R ...
Access Presentation
Access Presentation

... • Spleens from Mdm2SNP309G/G mice had elevated levels of Mdm2 and lower levels of p53 • Presence of 2 Mdm2SNP309G alleles significantly inhibited p53-dependent apoptosis in response to DNA damage in wild-type and heterozygous mutant p53 backgrounds • Presence of Mdm2SNP309G allele attenuates activat ...
The American University in Cairo  School of Science and Engineering
The American University in Cairo School of Science and Engineering

... Figure 12: E. coli PFGE Dendogram Figure 13: K. pneumoniae PFGE Dendogram ...
Help Me Understand Genetics
Help Me Understand Genetics

... What is DNA? DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitocho ...
Design-O-Saur - Beyond Benign
Design-O-Saur - Beyond Benign

...  Decode provided information to build a genetically unique dinosaur.  Understand that this is a model that could be used to look at human genetics  Understand gene sequences and the results of these sequences Materials:  Clay – model magic works very well  Student sheets Time needed: 1 x 45-60 ...
Endogenous Cerberus activity is required for anterior head
Endogenous Cerberus activity is required for anterior head

... injection of the CerMo does not cause visible head defects in the Xenopus embryo. In contrast, targeted increase of BMP, Nodal or Wnt activity in the ADE resulted specifically in the loss of head, but not trunk-tail structures. These factors synergistically inhibited head structures when simultaneou ...
Full Text - The International Journal of Developmental Biology
Full Text - The International Journal of Developmental Biology

... “decapacitation factor(s)” from sperm (De Jonge, 2005). It should be noted that the acrosome reaction is a change that happens only in capacitated spermatozoa and gradually increases to 30– 40% during 1–2h of incubation in vitro in mouse sperm population. This means sperm are not homogeneous but are ...
Phylogenetic analysis of three complete gap
Phylogenetic analysis of three complete gap

... transfer of small molecules (<1 kDa) between neighboring cells [1]. Cell –cell communication via gap junctions is critical for normal cellular function and homeostasis as evidenced by the wide variety of connexin mutations that lead to human disease [2]. A single connexin protein folds into four con ...
Emended description of the order Chlamydiales, proposal of
Emended description of the order Chlamydiales, proposal of

... into account recent analysis of the ribosomal operon or recently identified obligately intracellular organisms that have a chlamydia-like developmental cycle of replication. Neither does it provide a systematic rationale for identifying n e w strains. In this study, phylogenetic analyses of the 165 ...
Limb Girdle Muscular Dystrophy - Muscular Dystrophy Foundation of
Limb Girdle Muscular Dystrophy - Muscular Dystrophy Foundation of

< 1 ... 8 9 10 11 12 13 14 15 16 ... 1045 >

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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