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 17 of 17 for “"genetic etiology"”.
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Integrative analysis of heterogeneous genomic datasets to discover genetic etiology of autism spectrum disorders
Understanding the genetic background of complex diseases is crucial to medical research, with implications to diagnosis, treatment and drug development. As molecular approaches to this challenge are time consuming and costly, computational approaches offer an efficient alternative. Such approaches …
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Spinal Muscular Atrophy: Evidence of a Multi-System Disease
… infants and children, it can span all ages. Its genetic etiology revolves around the homozygous deletion or mutation of the SMN1 gene, whose product (SMN protein) has critical and ubiquitous roles in mRNA splicing, amongst various other functions in mRNA metabolism. As such, SMN depletion in …
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Executive Dysfunction is Predictive of Clinical Symptomatology in 22q11.2 Deletion Syndrome
… and it is not understood why. Given the known genetic etiology of this disorder and the greatly elevated risk for development of schizophrenia, this group offers the possibility of defining a seemingly homogenous maturational pathway to psychosis. Neurocognitive deficits have been increasingly …
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Uncovering novel genes causing isolated gonadotropin releasing hormone deficiency using runs of homozygosity in outbred families
… yet only 30-35% of IGD cases have a proven genetic etiology, highlighting the importance of new discovery methods. Homozygosity mapping, traditionally used to detect autozygous segments in inbred populations, has recently proven useful for gene discovery in outbred populations. METHODS: …
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A Novel Role for HAPLN1 in Skeletal Development
… during rapid growth and has a multi-factorial genetic etiology. Prior genetic studies in humans and animal models support differences in cartilage development in the pathogenesis of AIS. Here, we performed genome sequencing in families with inherited AIS and identified a co-segregating rare …
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Impact of Genetic Counseling on Patient Empowerment After Diagnosis of Fetal Anomaly
… anomalies are identified on prenatal ultrasound, genetic counseling (GC) and genetic testing may be offered to investigate the potential for a possible syndromic cause. Genetic counselors provide education on the chance for a genetic etiology, available testing options, potential changes in …
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Functional genomics studies of human brain development and implications for autism spectrum disorder
… disorders (ASD). Autism has a significant genetic etiology, but there are hundreds of genes implicated, and their functions are heterogeneous and complex. Therefore, an understanding of shared molecular and cellular pathways underlying the development ASD has remained elusive, hampering …
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Mechanisms of Copper-Dependent Notochord Formation in Zebrafish
… studies described here establish the specific genetic etiology of this distortion and reveal a number of gene-gene and gene-nutrient interactions critical to notochord morphogenesis. We first demonstrate that the notochord distortion observed in copper-deficient zebrafish results from lysyl …
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Cardiomyocyte Autophagy Is Induced by Protein Aggregation in Heart Disease
… the first to demonstrate proteinopathy of non-genetic etiology contributes to hypertension-induced heart failure and that protein aggregates are robust activators of cardiomyocyte autophagy. To directly address the role of autophagy in cardiomyocyte clearance of toxic protein species, I turned …
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The Diagnostic Odyssey of Hypermobile Eds Patients: Diagnosis, Clinical Expectations, and Psychosocial Concerns
… of EDS and has no identifiable underlying genetic etiology. Patients with clinical features of hEDS face a long diagnostic odyssey due to lack of genetic testing and wide clinical heterogeneity. Additionally, recent research has shown that genetic institutions limit evaluations for …
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Genetic and Clinical Determinants of Racial/Ethnic Differences In Multiple Myeloma Susceptibility and Outcomes Focusing On Hispanics
… descent. Studies have begun to interrogate the genetic basis for differences in MM susceptibility and other clinical endpoints in populations of European and African lineage. However, there is a gap in our understanding of the genetic etiology of MM susceptibility in Hispanics. Furthermore, MM …
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GENETIC CONTROL OF EYE AND CENTRAL NERVOUS SYSTEM DEVELOPMENT
… is a rare human congenital disorder with its genetic etiology largely unknown. In the second part of this thesis, we show that homozygous deletion of Nf1, the Ras GTPase gene underlying human neurofibromatosis type 1 syndrome, caused lens dysgenesis in mouse. While early lens specification …
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Parental Reports of the Development of Autism in Their Children: The Relevance of Regression, Comorbidity, and Genetics in the Detection ofEarly Characteristics
… variable reflecting parents' beliefs about the etiology of autism (genetic versus some external mechanism). Significant relationships existed between a variety of these variables with the exception of a family history of autism or other mental-health disorders. About half of the sample reported …
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Nuovi approcci molecolari per lo studio di malattie monogeniche rare: utilizzo dell’exome sequencing per la ricerca di geni malattia
… and proliferative, but the most have a genetic etiology. Discovering alleles underlying genetic conditions is essential for the comprehension of the pathogenesis and for the prevention of the disease through identification of carriers and prenatal diagnosis. Conventional strategies for …
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Genetic Factors and Dietary Salt Intake as Determinants of Blood Pressure and Risk of Primary Hypertension
… of hypertension (HT) are determined by both genetic and environmental factors. The specific genetic etiology of these two entities has remained enigmatic despite large efforts. In addition, daily salt intake seems to predispose for certain individuals to develop HT. The aims of the present …
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Validating a novel ADHD model for medication development
… surprisingly little is known regarding its genetic etiology and few improvements in therapeutics have been accomplished over the past decades. This lack of progress is partly attributable to the dearth of genetic models of ADHD enabling unbiased exploration of the genetic architecture of …
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Uncovering the molecular pathways of MBD5 in neurodevelopmental disorders
… shares characteristics in common with other genetic syndromes, including Smith-Magenis (SMS, RAI1), Pitt-Hopkins (PTH, TCF4), Angelman (AS, UBE3A) and Rett (RTT, MECP2) syndromes, including ID, speech impairment, and seizures, in addition to other autism spectrum disorder (ASD)-associated …