[PDF] Top 20 Dissecting the gene-regulatory circuitry of disease-associated genetic variants
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Dissecting the gene-regulatory circuitry of disease-associated genetic variants
... fulfillment of the requirements for the degree of Masters of Engineering in Computer Science and Electrical Engineering Abstract: Disease-associated nucleotides lie ... Voir le document complet
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Quantitative EEG during normal aging: association with the Alzheimer's disease genetic risk variant in PICALM gene.
... Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M.L., Pahwa, J.S., Moskvina, V., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A.R., Lovestone, S., Powell, J., ... Voir le document complet
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Genetic variants in the NOD2/CARD15 gene are associated with early mortality in sepsis patients
... stage of underlying disease, use of T-cell depletion and intensity of conditioning were used as ...As the Leu1007fsinsC mutation has been reported to impair detection of ... Voir le document complet
8
Evaluation of the association between common genetic variants and breast cancer risk
... that the major part of the genome is represented by non-coding sequences that contain sequence motifs controlling gene transcription over large distances ...ultimately of single cells, ... Voir le document complet
519
en fr Physiopathology of inherited retinal dystrophies associated with pathogenic variants of IMPG1 gene Physiopathologie des dystrophies rétiniennes héréditaires associées aux variants pathogènes du gène IMPG1
... Mendelian genetic diseases that cause dysfunction then cell death, including photoreceptors and retinal pigment epithelium cells ...in the retinal periphery, thus constituting the majority subgroup ... Voir le document complet
167
A spontaneous mutation of the rat Themis gene leads to impaired function of regulatory T cells linked to inflammatory bowel disease.
... inflammatory disease that affects preferentially the gut ...to the BN genetic background, since we found that BN rats were highly sensitive to TNBS induced colitis (our unpublished ...data). ... Voir le document complet
12
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
... DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with ...mitochondrial gene NGS analysis in two patients (Patient 1 and 2), a mother and her son, ... Voir le document complet
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Characterization of the proneural gene regulatory network during mouse telencephalon development.
... Global gene expression analyses Twenty-eight separate gene expression datasets were used for the identification and quantification of GRNs for fore- brain development using either the ... Voir le document complet
17
Early alteration of the locus coeruleus in phenotypic variants of Alzheimer’s disease
... to the manuscript Abstract Neuropathological studies showed early locus coeruleus (LC) neuronal loss associated with tauopathy in Alzheimer’s Disease ...used the LC signal intensity (LC-I) on ... Voir le document complet
8
Three Common Intronic Variants in the Maternal and Fetal Thiamine Pyrophosphokinase Gene (TPK1) are Associated with Birth Weight
... sign the three intronic SNPs to positions that are known to be critical for the splicing process, for regulation of expression (Mizumoto et ...formation. The only positive finding was that ... Voir le document complet
9
Angiotensin-converting enzyme gene variants are associated with both cortisol secretion and late-life depression.
... is the first prospective study of late-life depression to investigate potential associations with several ACE polymorphisms in community-dwelling elderly, with a strong a priori biological ...rationale. ... Voir le document complet
12
Identification and genetic characterization of an Aegilops tauschii ortholog of the wheat leaf rust disease resistance gene Lr1
... by the fungal pathogen Puccinia triticina is one of the most common diseases affecting wheat production ...on the leaf blades where uredinia rapidly develop following the infection ... Voir le document complet
6
Changes in the expression of the Alzheimer's disease-associated presenilin gene in drosophila heart leads to cardiac dysfunction
... Assessment The OCT system used is modified based on a swept source OCT engine (Thorlabs ...study the cardiac function, the flies were anesthetized with Fly Nap for 2 minutes and mounted on glass ... Voir le document complet
20
Artificial Gene Regulatory Networks - A Review
... on the bistable nature of a genetically-regulated model, it was shown that the decisions to move and for location preference operate in parallel ...evaluating the dynamic stability of ... Voir le document complet
96
Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States
... L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou ... Voir le document complet
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Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein
... in the basolateral plasma membrane of RPE cells in macaques, swine [11], humans [28], canines [46] and mice ...[21,48]. The purpose of this study was to investigate if defective sorting and ... Voir le document complet
21
BRCA Share: A Collection of Clinical BRCA Gene Variants
... for the variant [den Dunnen et al., 2016], ID of transcript used to derive the names, the variant class (missense, nonsense, frameshift, intronic, rearrangement, insertion, deletion, ... Voir le document complet
12
OmpC and the sigma(E) regulatory pathway are involved in adhesion and invasion of the Crohn's disease-associated Escherichia coli strain LF82
... regulates the expression of other factors involved in adhesion and invasion ...expression of the outer membrane pro- teins OmpC and OmpF exists in ...involves the two-component ... Voir le document complet
17
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
... error of metabolism caused by TKFC deficiency in two unrelated ...known genetic etiologies, and further variant analysis identified rare homozygous variants in ...in the generation of ... Voir le document complet
9
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function
... omponents of both the exocrine and endocrine pancreas are affected by diseases, ...both the quality and span of human ...share the same cellular origin and early morphogenetic pathways, ... Voir le document complet
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