[PDF] Top 20 Copy number variation and Huntington’s disease
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Copy number variation and Huntington’s disease
... symptoms and the several phenotypes associated with HD are not fully accounted for by the expanded CAG repeat in the HTT ...onset and progression of the disease (Wexler et ...heterogeneity and ... See full document
215
Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value.
... mutation), and loss of one chromosome 9 ...deletion and mutations in TSC1, PTEN, RB1, and particularly ...this disease [15,42], and common mutation in chromatin remodeling genes in ... See full document
11
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
... Copy number changes are a useful diagnostic indicator for many diseases, including ...genome-wide copy number is array comparative genomic hybridization (array CGH) [1, ...obtain copy ... See full document
18
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
... polymorphic copy number variants ...kits and was not present in parental ...variants and were not considered ...kit and parental DNA was not available, the result was considered a) ... See full document
8
Unique signatures of natural background radiation on human Y chromosomes from Kerala, India.
... Duplications and the Human Y Chromosomes CNPs in humans have been reported using genome wide array- CGH techniques ...limited number of samples taken up for analysis and low ...single copy SRY ... See full document
20
Effect of MPG gene rs2858056 polymorphism, copy number variation, and level of serum MPG protein on the risk for rheumatoid arthritis.
... autoimmune disease characterized by joint inflammation and numerous peripheral inflammatory manifestations ...(cartilage and bone), and impaired joint function ...[8], and CTLA-4 ... See full document
10
Novel polymorphisms in plasmodium falciparum ABC transporter genes are associated with major ACT antimalarial drug resistance
... PfCRT and PfMRP1 are believed to be major contributors to resistance through decreasing intracellular drug ...pfmdr1 and pfmrp1 genes were sequenced from a set of ...mefloquine and lumefantrine were ... See full document
11
Copy number of the transposon, Pokey, in rDNA is positively correlated with rDNA copy number in Daphnia obtuse [corrected].
... 7.5%, and there is no apparent bias in terms of which estimate (the first or the second) is ...total number of 28S genes and rInserts [u28S + rPokeyA + rPokeyB], which is expected to be zero if no ... See full document
21
Prohibitin Expression Deregulation in Gastric Cancer Is Associated with the 3 ' Untranslated Region 1630 C > T Polymorphism and Copy Number Variation
... into S phase ...[11,28] and tumor growth [12] as well as reduce cell mobility ...function and morphology ...proteins and impair function of the mitochondrial respiratory chain ...[31] ... See full document
9
Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens.
... dermis and central connective tissue, of which collagen and hyaluronan are the major components ...[27,28] and that the determination resides in the mesenchymal components and not in the ... See full document
10
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.
... homoplasmies and 0.73 heteroplasmies per individual. S1 Table and S2 Table provide complete lists of homoplasmies and heteroplasmies, ...homoplasmies and heteroplasmies per individual. The ... See full document
18
Association of activating KIR copy number variation of NK cells with containment of SIV replication in rhesus monkeys.
... 30 s at 94uC, 30 s at 66uC, and 90 s at 68 uC; and 20 min at ...excised and purified with a QIAquick Gel Extraction Kit (Qiagen) following the manufactur- er’s ...hour and ... See full document
12
Prodromal Huntington disease as a model for functional compensation of early neurodegeneration.
... a variation of probabilities (0%, 25%, 50%, 75%, 100%) to win a fixed amount of money (1 Euro) resulting in parameterized levels of reward value defined as the product of reward probability times ...disappearance ... See full document
14
Dosage sensitivity shapes the evolution of copy-number varied regions.
... haploinsufficiency and duplication sensitivity [21]. A limited number of enzymes are sensitive to low dosage because they are the rate limiting factor in a biochemical ...Alzheimer’s disease as a ... See full document
10
Estimação de proporções alélicas e genotípicas individuais de dados CNVs (Copy Number Variations)
... MCKINNEY, C.; FANCIULLIi, M.; MERRIMAN, M. E.; PHIPPS-GREEN, A.; ALIZADEH, B. Z.; KOELEMAN, B.P.; DALBETH, N.; GOW, P. J.; HARRISON, A. A.; HIGHTON, J.; JONES, P.B.; STAMP, L. K.; STEER, S.; BARRERA, P.; COENEN, ... See full document
53
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
... male and loss of oogonia in the female resulting in SCOS, XY gonadal dysgenesis and POF, ...trait and male infertility is sometimes postulated as a polygenic disease ...counts and ... See full document
11
A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.
... and some other tumors [50]. To date, this region has not been reported to be associated with any vascular diseases or phenotypes. Our initial association screen also identified other BAVM- associated CNVR mapping ... See full document
9
A genome-wide copy number variant study of suicidal behavior.
... Copy number variations (CNVs) are deletions or duplications of a segment of DNA, usually larger than 1 kilobase ...genetic variation similar to other genetic variants, such as sequence repeats ... See full document
11
Copy Number Variation of Cytokinin Oxidase Gene Tackx4 Associated with Grain Weight and Chlorophyll Content of Flag Leaf in Common Wheat.
... Content and Grain Weight Through the analysis of spearman rank correlation and t-test, Tackx4, amplified by T19-20 primer pair, was identified to have a significant association with chlorophyll content of ... See full document
15
A preliminary study of copy number variation in Tibetans.
... on disease suscep- tibility [6,7], migration history [2,5,8], and high-altitude adaptation ...STR, and haplotypes of mitochon- dria, as well as Y ...DNA copy number variation is ... See full document
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