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 20 of 159 for “"X-linked"”.
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Identifying Novel Causes of X-Linked Heterotaxy
… with four affected males, demonstrating an X-linked inheritance. No coding variant in ZIC3 was identified, leaving the pedigree unsolved for over two decades. Initially, the family’s heterotaxy was hypothesized to be caused by a coding variant in a novel heterotaxy locus on the X chromosome. …
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X-LINKED RETINOSCHISIS ELECTROPHYSIOLOGY, MOLECULAR GENETICS AND TREATMENT
X-linked retinoschisis (XLRS) is a congenital progressive inherited retinal disease that affects the entire retina and is one of the more common causes of vision loss from retinal degeneration affecting young men,. The progression is variable but seems to be relatively stationary in the ages 6 to …
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Patterns and biomarkers of X-linked dystonia parkinsonism disease progression
X-linked dystonia parkinsonism is a neurodegenerative movement disorder that originate from the island of Panay, Philippines. Though this is a relatively novel disease, efforts have been directed towards solving the etiology, which currently points to an expansion in the TAF1 gene. This gene plays …
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Mapping genes for X-linked disorders / by Agi Kyra Gedeon.
… localisation and genetic delineation of rare X-linked morogenic neuropsychiatric diseases and other X-linked disorders, and identifies two new genes.
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Expression of X-linked Inhibitor of Apoptosis Protein in Neoplastic Thyroid Disorder
X-linked inhibitor of apoptosis protein (XIAP) is associated with tumor genesis, growth, progression and metastasis, and acts by blocking caspase-mediated apoptosis. In the present study, we sought to evaluate the expression patterns of XIAP in various neoplastic thyroid disorders and determine the …
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Studies on X chromosome inactivation and the X-linked disease Rett syndrome
(cont.) the RTT phenotype.
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Identification and characterisation of novel marker proteins involved in X-linked muscular dystrophy
Progressive X-linked muscular dystrophy represents the most commonly inherited neuromuscular disorder in humans. Although the primary abnormality lies with the loss of dystrophin and reduction of its associated glycoprotein complex, secondary alterations in metabolic pathways, cellular signalling …
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Linkage studies of x-linked cleft palate and ankyloglossia in a British Columbia native kindred
… and ankyloglossia which segregate as a single X-linked trait (CPX) in a British Columbia (B.C.) Native kindred. The original description (Lowry 1970) of the clefting defect in the B.C. kindred included submucous cleft palate and bifid or absent uvula. Sixty-three of the B.C. family members were …
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The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR)
… of these individuals are afflictedwith the X-linked form of the condition. To date a total of 87 genes have beenimplicated in the pathogenesis of X-linked mental retardation (XLMR).
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Role of X-Linked Inhibitor of Apoptosis Protein in Therapeutic Resistance of Inflammatory Breast Cancer Cells
… The overarching theme observed was that x-linked inhibitor of apoptosis protein (XIAP) expression inversely correlated with sensitivity of cells to therapeutic agents with various mechanisms of action, including TNF-related apoptosis inducing ligand (TRAIL), doxorubicin, cisplatin, …
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Electrophysiological characterization of a mouse deficient for oligophrenin1: a mouse model of X-linked mental retardation
… disease. One of the first genes identified in X-linked mental retardation (XLMR) was the OPHN-1 gene. Mutation of this gene has been described in patients with moderate to severe cognitive impairments. MR is characterized by reduced cognitive function with or without other clinical features, thus …
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Application Of Magnetic Resonance Imaging To Understanding The Pathogenesis Of The X-Linked Leukodystrophy Pelizaeus-Merzbacher Disease
<p>Myelin is a multilamellar membrane structure surrounding axons in both the CNS and PNS that facilitates nerve conduction. In the CNS, myelin is synthesized by oligodendrocytes, while in the PNS, myelin is synthesized by Schwann cells. In the CNS, Proteolipid protein 1 (PLP1), an integral …
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Identificazione di una variante missenso nel gene RBM10 in una famiglia sarda con disabilità intellettiva X-linked
X-linked intellectual disability (XLID) is a heterogeneous disorder, and mutations causing monogenic XLID have now been reported in over 100 genes. We report a five-generation Sardinian family in which seven affected male family members had intellectual disability and craniofacial dysmorphisms. …
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Quantifying the patient population of ultra-orphan diseases: a case study in X-Linked Hypohidrotic Ectodermal Dysplasia
… research is to investigate the incidence of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) and provide a framework for investigators to study the incidence and prevalence of other rare diseases. Specific research objectives include: 1) Develop a clinical phenotype to identify XLHED patients …
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Regulation of human 5-aminolevulinate synthase 2 expression during erythroid differentiation and its role in x-linked sideroblastic anaemia.
… has been implicated in a blood disorder called X-linked sideroblastic anaemia (XLSA). XLSA is characterised by the presence of iron loaded mitochondria surrounding the nucleus in erythroblasts of the bone marrow. Anaemia, associated with a cycle of ineffective erythropoiesis that is linked to …
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The effects of gene replacement therapy on respiratory and gait function in a canine model of X-linked myotubular myopathy
X-linked myotubular myopathy (XLMTM) is a fatal pediatric disease caused by a deficiency of the protein myotubularin due to mutation of the MTM1 gene on the X chromosome. Affected boys experience profound skeletal muscle weakness and are typically ventilator and wheelchair dependent, with …
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Impaired metabolism in X-linked muscular dystrophy: experimental evaluation of potential therapies to improve calcium regulation, bioenergetics and muscle architecture
… preferentially utilises ATP produced by a linked creatine kinase (CK) system over both exogenously administered ATP and ATP produced by SR-linked glycolytic enzymes, and as such, SR Ca2+ uptake rate was considerably faster under these conditions. It was also demonstrated that high [ADP] …
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