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Angelman Syndrome (AS) and UBE3A (E6-AP)
Angelman Syndrome (AS) and UBE3A (E6-AP)

... Allele discriminating action of imprinting centres based on epigenetic modifications of chromatin Typically via methylation of cytosines (DNA)and histone acetlylation and methylation Acetylation of histones associated with transcriptionally active chromatin Methylation of histones and DNA associated ...
FROM SINGLE GENE TO PHENOTYPE: QUESTIONING A
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... resultant products in the phenotype. A typical definition of a functional transcript is a unit of RNA or DNA which, when transcribed, reliably translates into a functional product. However, improved sequence technologies reveal a number of exceptions that appear functional, yet challenge primacy of ...
Ringwald
Ringwald

... -> takes advantage of existing ontologies (terms + relationships) -> more robust and complete representation of developmental processes > normalization and integration ...
Principles of Inheritance
Principles of Inheritance

... all cells with nuclei •In sexually-reproducing organisms, chromosomes come in homologous pairs –Each member of the pair contains information on how to build the same protein products –One member of each pair comes from the mother and one comes from the father ...
Novel Imprinted DLK1/GTL2 Domain on Human Chromosome 14
Novel Imprinted DLK1/GTL2 Domain on Human Chromosome 14

... pUPD would increase DLK1 expression relative to that of other pathway components with which it interacts. This may explain the severity and potential lethality of pUPD for chromosome 14. In contrast, the lack of DLK1 expression resulting from mUPD may be less severe because of possible redundancy in ...
Cecilie Bredrup - Rubinstein – Taybi Syndrome Support Group
Cecilie Bredrup - Rubinstein – Taybi Syndrome Support Group

...  Histologically collagen fibers (type I and III) randomly orientated. Fibroblasts (cultured skin cells) show excessive extracellular matrix production and altered behavior  Treatment is dif ficult, recurrence is high ...
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No Slide Title

... -gene will be incorporated into genome and expressed in some but not all baby mice, -produced 2 XX male mice. These were Sry transgenic but also sterile (because lacked other missing Y genes.) ...
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... by a transcription factor that specifically binds to a “regulatory motif” in the gene’s regulatory region • A number of other proteins (general transcription factors) are recruited and bind to DNA in the proximity of the transcription start site • Finally, the RNA Polymerase, the protein that perfor ...
Genetics of Quantitative Variation in Human Gene Expression
Genetics of Quantitative Variation in Human Gene Expression

... The extent of variation among individuals at the DNA sequence level has been well characterized. The goal of many genetic studies is to determine the consequences of these sequence variants, for both normal and disease phenotypes. We have extended the study of genome variation from the sequence to m ...
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... After 14 years of search the RTT gene was finally identified in 1999 ...
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Ancestral reconstruction and investigations of - GdR BIM
Ancestral reconstruction and investigations of - GdR BIM

... Egel, Richard. "Primal eukaryogenesis: on the communal nature of precellular states, ancestral to modern life." Life 2.1 (2012): 170-212. ...
Insulin resistance
Insulin resistance

... Almost complete and specific ablation of IR expression in all skeletal m. and even a 92% reduction in the heart At birth, no difference in spontaneous activity or exercise capacity (~10% reduction in muscle mass) Maintain euglycemia up to at least 20 months of age Normal glucose tolerance tests Rate ...
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Leukaemia Section t(6;12)(p21;p13) in lymphoid malignancies Atlas of Genetics and Cytogenetics

... Variants No variants in CLL and ALL. ...
Statistics and bioinformatics applied to omics
Statistics and bioinformatics applied to omics

... • While there are some traditional cut-off points (0.001, 0.01 or the “magical” 0.05), they remain fairly arbitrary – Is there really a difference between a gene associated with a p-value of 0.049 and another one with a p-value of 0.051 ? ...
Unit 5 Molecular Genetics Objectives
Unit 5 Molecular Genetics Objectives

... 3 Inducers and repressors are small molecules that interact with regulatory proteins and/or regulatory sequences. 4 Regulatory proteins inhibit gene expression by binding to DNA and blocking transcription (negative control). 5 Regulatory proteins stimulate gene expression by binding to DNA and stimu ...
Zoo/Bot 3333
Zoo/Bot 3333

... Questions 1-2 pertain to the following. Fertile varieties of the Golana melon are known that contain 14, 28, 42, 56, and 70 chromosomes, respectively. A variety that contains 21 chromosomes exists, but can only be propagated through cuttings. 1. The monoploid number for these Golana melon species is ...
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Print as PDF

... GeneWeaver uses a set of analysis tools to operate on genes and gene sets. These tools evaluate a range of data inputs for the purposes of elucidating hierarchical relationships among a set of gene sets of interest. They can be used to visualize bipartite clusters (Hierarchical Similarity [HiSim] Gr ...
Inquiry into Life Twelfth Edition
Inquiry into Life Twelfth Edition

... • H1 repression can be counteracted by transcription factors • Sp1 and GAL4 act as both: – Antirepressors preventing histone repressions ...
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Text S1.

... Western blot analysis Western blotting experiments were performed as previously described [15]. In short: animals from various strains were grown and equal numbers of L4 animals (80) were harvested. 2x Laemmli sample buffer was added to the worm pellet, samples were boiled for 10 minutes, divided in ...
Tool box for studying gene function in neural development
Tool box for studying gene function in neural development

... II. Gain-of-function experiment: gene product of gene A is sufficient for mediating process B. III. Loss-of-function experiment:gene A or gene product of gene A is normally required for process B. ...
Group 4: Gene Transcription 2
Group 4: Gene Transcription 2

... Individuals with identical genes can exhibit variable phenotypes due to differences in methylation patterns (Mini Lecture) ...
5. Differential Gene Expression
5. Differential Gene Expression

... RNA processing and protein production Initiating transcription: promoters and basal transcription factors  Regulation of gene transcription  enhancers  specific transcription factors  Epigenetic processes (modifications of DNA structure)  methylation  imprinting  Alternative RNA splicing  ...
Molecular_Genetic_Characterization[1]
Molecular_Genetic_Characterization[1]

... The 2005 project had two major objectives to be accomplished under the $2000 award. The first was to identify the orthologs of photoperiod genes in Fragaria. The goal would be met starting with sequence from the model system. Using a series of methods, namely degenerate PCR and colony hybridization ...
Basic Genetics & Background on Genetic Testing
Basic Genetics & Background on Genetic Testing

... Used to detect gene mutations associated with disorders that appear later in life ...
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Epigenetics of diabetes Type 2

In recent years it has become apparent that the environment and underlying mechanisms affect gene expression and the genome outside of the central dogma of biology. It has been found that many Epigenetic mechanisms are involved in the regulation and expression of genes such as DNA methylation and chromatin remodeling. These epigenetic mechanisms are believed to be a contributing factor to pathological diseases such as Diabetes type II. An understanding of the epigenome of Diabetes patients may help to elucidate otherwise hidden causes of this disease.
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