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 171 for “"autosomal dominant"”.
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Molecular genetic investigation of autosomal dominant muscular dystrophy
This thesis contributes to the Human Genome Project by adding detail to the physical and genetic maps of the human genome, and by identifying a strong candidate gene for a form of distal myopathy. Genomic clones for the human skeletal muscle genes slow troponin (TNN/1), alpha actin (ACTA1), and …
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Molecular genetic investigation of autosomal dominant hemifacial microsomia
… sporadically or segregate within families in an autosomal fashion. HFM is characterised by significant undergrowth to one side of the face and is a common birth defect with an estimated incidence of 1 in 1,000 to 1 in 5.600 births. Most HFM cases are sporadic, but there are rare familial cases …
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Autosomal dominant non-syndromic hearing impairment. Some clinical aspects
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Assessing Disease Modifying Therapies in Autosomal Dominant Polycystic Kidney Disease
Background: Vasopressin stimulates cyst growth in autosomal dominant polycystic kidney disease (ADPKD) and is a key therapeutic target. Evaluation of high water intake (HWI) as an alternative to pharmacological vasopressin blockade is supported by patients. However the feasibility, safety and …
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The role of sphingolipids in autosomal dominant polycystic kidney disease (ADPKD)
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of renal cysts and eventual renal failure. There is currently no cure for ADPKD, but various treatments are available to alleviate the symptoms. In ADPKD, cystic renal epithelia are prevalent …
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Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome
… fibrosis. The pathological hallmark of this autosomal dominant condition is abnormal fibrosis of the skin, tendons and viscera, with variable penetrance. A candidate gene approach was adopted to investigate the molecular basis of this disease.
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DIETARY FACTORS ASSOCIATED WITH THE PROGRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
… cyst growth in human and animal studies of autosomal dominant polycystic kidney disease (ADPKD). However, no studies have been conducted to control such dietary constituents. Body mass index (BMI) and high-density lipoprotein (HDL), factors associated with dietary behaviors, have also been …
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Quantified phenotype analysis in a cell model for Autosomal Dominant Retinitis Pigmentosa
… P23H/A/L in rhodopsin in a cellular model for autosomal dominant retinitis pigmentosa in stable HEK 293S cell lines and in GMK cells. Autosomal dominant retinitis pigmentosa is a genetic disorder which can lead to photoreceptor cell death and result in reduced vision and complete blindness. …
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Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected …
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Na,K-ATPase signaling in cyst progression in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic disorder of the kidney, affecting 1:500-1000 live births across the world. It is characterized by the formation and growth of fluid-filled cysts which grow larger throughout the lifetime of the patient, eventually …
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Health Care Resource Utilization and Expenditures in Persons with Autosomal Dominant Polycystic Kidney Disease
… of this study were to determine prevalence of autosomal dominant polycystic kidney disease (ADPKD), to determine all-cause health care resource utilization and all-cause health care expenditures, to determine incremental health care resource utilization, and to determine incremental health care …
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Lamin A and lamin C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy
… associated with cardiac conduction defect. The autosomal dominant form is caused by mutations in the LMNA gene which gives rise to lamin A and lamin C proteins by alternative splicing. These A-type lamins, together with B-type lamins, form the nuclear lamina, a network of intermediate filament …
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Systematic Methodology For The Identification of A Novel Autosomal Dominant Retinitis Pigmentosa Disease-Causing Gene
… 1.5 million people world-wide. Mutations causing autosomal dominant retinitis pigmentosa (adRP) have been identified in 23 different genes. However, these mutations only account for approximately 70% of known adRP cases in Caucasians of Western-European origin and for an even smaller percentage of …
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Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian disorders, affecting approximately 1 in 1000 individuals. The disease is recognised as a systemic disorder, which expresses a complex phenotype between and within families. Mutations in at least two genes (PKDI …
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A molecular investigation of the novel gene underlying autosomal dominant retinitis pigmentosa in a South African family
… A study of a South African family with an autosomal dominant form of RP (adRP) forms the basis of this dissertation. In this family, comprising 44 individuals, the first manifestation of visual disturbance is usually evident between 20 and 30 years of age. Subsequently, another South …
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An omics study into the molecular impact of autosomal dominant APP and MAPT mutations on the cerebral cortex
… 30 and 50 years of age and are often linked to autosomal dominant mutations. This dissertation focuses on APP and MAPT mutations causal to early onset AD or FTD, which affect the dosage or isoform ratio balance of the key proteins underlying AD/FTD: amyloid beta and tau. Using a combination of …
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Molecular genetic characterization of ataxic movement disorders in mouse and human
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease. Through linkage and sequence analysis a novel …
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Expression, purification and characterisation of protoporphyrinogen oxidases from diverse species
… in human PPO causes variegate porphyria, an autosomal dominant disorder characterised by skin photosensitivity and propensity towards acute neurovisceral crises. At the beginning of this project little information was available on the kinetic and biophysical properties of isolated PPOs due …
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