Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 10 of 10 for “"Modifier Genes"”.
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Identifying modifier genes in SMA model mice
… Mutations in the SMN1, UBA1, DYNC1H1 and VAPB genes cause spinal muscular atrophy. Extra copies of the SMN2 gene modify the severity of spinal muscular atrophy. Mutations in SMN1 (Motor Neuron 1) mainly causes SMA (Autosomal recessive inheritance). SMN1 gene mutations lead to a shortage of the …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… methods to identify common and rare ADAOO modifiers, respectively. Using data mining and predictive modelling tools, a clinical diagnostic tool with potential applications in the clinical setting is developed to predict disease status (early-onset versus late-onset) based on demographic and …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… methods to identify common and rare ADAOO modifiers, respectively. Using data mining and predictive modelling tools, a clinical diagnostic tool with potential applications in the clinical setting is developed to predict disease status (early-onset versus late-onset) based on demographic and …
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Multi-Omics Investigation to on the Effect of Replication Stress on Leukemia Cells
… chromatin state directly given that upregulated genes did not vary in their H3K27 modification or polymerase pausing, and many chromatin modifier genes that suppressed THP1 differentiation did not also suppress differentiation in K562s. Thus, the mechanism of how replication stress leads to …
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A Search For Genetic Modifiers Responsible For Congenital Heart Disease Variability In The Presence Of Nkx2-5 Haploinsufficiency
… on chromosomes 6, 8 and 10 implicating genes in these positions as important candidates for VSD risk. Linkage analysis on the A/J cross identified both shared and unique modifiers from the FVB/N cross scan. Maternal age was found to significantly correlate with VSD risk in FVB/N crosses …
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Esx1 Dosage Impacts Reproductive Fitness: Effects On Viability and Fertility
<p>Numerous genes expressed in placenta or testis localize to the X-chromosome. Both tissues undergo specialized X-chromosome inactivation (imprinted paternal inactivation in placenta and MSCI in testicular germ cells). When the X-chromosome is duplicated or improperly inactivated, defects in …
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The role of Rnd3 in kidney morphogenesis and function
… can be attributed to genic, allelic and gene modifier effects. To understand the involvement of modifier genes in the onset and development of ADPKD phenotypes, a novel mouse model Rnd3tm1b(EUCOMM)Hmgu was generated. Rnd3 is an atypical member of the Rnd subgroup of the Rho family of GTPases …
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THE INTERPLAY BETWEEN HPCAL4 AND MECP2: IDENTIFICATION AND CHARACTERIZATION OF A NOVEL PUTATIVE TARGET FOR RETT SYNDROME THERAPY
… and spine density. Besides Mecp2, several other genes have been associated with RTT or RTT-like phenotypes and the number of disease-candidate genes has grown over the years. Therefore, identifying novel molecular players may provide new insights into RTT pathophysiology and uncover potential …
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The Search for Modifiers of the Maze Gametophyte Factor Ga1-s and Quantitative Trait Polymorphisms Emerging from Doubled-Haploid Maize Lines
… was to identify the genomic localization of the modifiers of the maize gametophyte factor (<em>Ga1-s</em>) and the second project was to establish and identify heritable polymorphic lines that have descended from a single doubled-haploid B73 plant. The objectives were (1) to search for modifier …
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Whole genome sequencing approach to identifying genetic risk factors underlying anterior cruciate ligament injuries in a twin family study
… explored to prioritise potential candidate genes. Two biological networks were prioritised which highlighted the angiogenesis and proteoglycan family of proteins. Specific polymorphisms within previously investigated candidate genes were further explored in case-control genetic association …