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.
Results
Showing 1 to 20 of 50 for “"missense mutation"”.
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3-Methylcrotonyl-CoA: Carboxylase Mangel
… (etwa 1 : 40 000) darstellt und asymptomatische Mutationsträger existieren. Über Risiko und Prognose dieser metabolischen Störung ist derzeit noch keine Aussage möglich. In dieser Arbeit sollte daher eine Methode zur molekulargenetischen Charakterisierung von Patienten mit MCC Mangel etabliert …
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In-vivo investigation of resveratrol as a preventive for radiation-induced acute myeloid leukemia
… mouse bone marrow cells. Loss of 1 PU.1 gene and missense mutation of the remaining allele leads to acute myeloid leukemia in CBA mice.
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Genetische Prädisposition der intrahepatischen Schwangerschaftscholestase : Mutationsanalyse des Phospholipidtransporters ABCB4 und der Gallensäurenexportpumpe ABCB11
… gamma-glutamyl transferase (GGT), heterozygous mutations in the ABCB4 gene encoding the hepatic canalicular phospholipid transport protein MDR3 play a role in pathogenesis. Mutations in the ABCB11 encoding the bile salt export pump BSEP may as well predispose for ICP. In 28 Swedish and German …
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Mutation of SLC7A14 Causes Syndromic Hearing Loss
… analysis has also implicated novel mutations in hair cell genes. This study investigated Slc7a14, which is upregulated in adult mouse inner hair cells (IHCs) compared to outer hair cells (OHCs). Mutations in this gene are associated with autosomal recessive retinitis pigmentosa (RP) …
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Genomic changes in Fanconi anemia: implications for diagnosis, pathogenesis and prognosis
… FA-D1 was recently shown to be due to biallelic mutations in the human breast cancer gene 2 (BRCA2). After DNA damage, the nuclear complex regulates monoubiquitylation of FANCD2, result- ing in targeting of this protein into nuclear foci together with BRCA1 and other DNA damage response proteins. …
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Biochemical and Functional Analyses of PANX1 Variants
… site at Tyr150, that when disrupted via a missense mutation resulted in hypo-glycosylation and a greater capacity to traffic to the cell-surface and enhanced dye uptake. We have also uncovered a highly conserved ancestral allele, Gln5His, that has a greater allele frequency than the derived …
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Ipsc Based Gene Correction and Disease Model of A New Class of Lgmd Due to Poglut1 Mutation
… in a family due to autosomal recessive missense mutation in POGLUT1. Mutation of this enzyme leads to decreased O-glucosyltransferase activity and impaired Notch signaling, the pathways important for skeletal muscle stem cell (satellite cells) quiescence and activation. We hypothesize …
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A clinical and molecular genetic study into familial and sporadic Parkinson’s Disease
… confirmed the importance of pathogenic LRRK2 mutations in UK familial PD (fPD). In addition I identified three novel frameshift mutations. I investigated the functional effects of two of these mutations and provide evidence that nonsense mediated decay (NMD) is occurring in LRRK2-PD. In this …
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Genomic Approaches to Congenital Genitourinary Disorders
… for PBS and persistent cloaca are unknown while mutations in known DSD genes account for only 50% of 46,XY DSD patients. The goal of this research was to use both array-comparative genomic hybridization and whole exome sequencing to identify causative variants and candidate genes for PBS, …
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Nephrotic Syndrome and Glomerular Basement Membrane: Genetic Defect of the Laminin α5 Chain
… component of the glomerular basement membrane. Mutations in <i>LAMB2</i> are associated with Pierson’s syndrome and mutations in <i>LAMA5</i> have recently been identified in paediatric patients affected by nephrotic syndrome. <br></br><br></br> As part of the MRC Harwell Ageing Screen, a …
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Molekulare Ursachen des Mohr-Tranebjaerg-Syndromes
… of the translocase for matrix-targeted proteins. Mutations in DDP1/TIMM8A, the gene encoding the human homolog of Tim8, cause the Mohr-Tranebjaerg syndrome (MTS), a progressive neurodegenerative disorder. This work shows that DDP1 and human Tim13 are zinc binding proteins which together form a 70 …
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The Role of Edc3 in Drosophila Melanogaster Neuronal Development
… for 5’-to-3’ messenger RNA (mRNA) decay. A missense mutation in the conserved Lsm domain of Edc3 has been reported in two siblings presenting with mild, non-syndromic intellectual disability (ID), however, the role of Edc3 is neuronal development has never been evaluated. Here, we use the …
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Measuring material properties of tectorial membranes from normal and genetically modified mice
With the discovery of hearing disorders caused by mutations in proteins expressed in the tectorial membrane (TM), the importance of the TM in cochlear mechanics has never been clearer. However, the exact role of the TM in cochlear mechanics remains a mystery. In this thesis, I have investigated …
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The Role of Wnt Signaling in Bone Mechanotransduction
… an Lrp4 knockin mouse model harboring a missense mutation found among human patients with abnormally high bone mass. I hypothesize that the mutation compromises sclerostin action on bone cells. Understanding how each of these components of the Wnt signaling pathway interact, may lead to …
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Evaluating The Therapeutic Efficacy of Restoring Wild-Type P53 Activity In P53-Mutant Tumors
… frequently altered in human cancers usually via missense mutations that undermine its transcriptional activity. Clinically, <em>TP53</em> mutations have been shown to be remarkably predictive of refractoriness to treatment, resulting in poor outcome. Consequently, the development of p53 pathway …
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The conserved dedA family of E. coli membrane proteins: genetic and topological analysis
… mutant named Lud135 was isolated with mutations in two related, nonessential genes: yghB and yqjA. yghB harbors a single missense mutation (G203D) and yqjA contains a nonsense mutation (W92TGA) in Lud135. Both mutations are required for the temperature-sensitive phenotype: targeted …
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Prime Editing as a Potential Therapeutic Intervention for Generalized Epilepsy with Febrile Seizures Plus (GEFS+): From Gene Editing to Functional Recovery
… by applying it to correct a disease-causing mutation in the SCN1A gene associated with Generalized Epilepsy with Febrile Seizures Plus (GEFS+), a severe neurodevelopmental disorder characterized by hyperthermia-induced seizures and premature mortality. Using an intein-split prime editor …
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Characterizing in vitro propagation and radiation response of murine mammary stem cells
… using Atm heterozygous mice carrying a known missense mutation found in human A-T. These studies demonstrated the proof of principle for this model development and the utility of this methodology. Our improved methodology has expanded the feasibility and the applicability of this model to …
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N-linked glycosylation is fundamentally linked to the surface expression of neuroligins
… neurotransmitter receptors to synapses. Mutation of N-glycosylated residues increased retention of each NLGN isoform in the endoplasmic reticulum (ER), consequentially reducing their ability to interact with presynapses. Pharmacological inhibition of various stages of the N-glycan …
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The Role of ECSIT in Mitochondrial Dysfunction Mediated Cardiomyopathy
… screen, The Harwell Ageing Screen, a novel missense mutation (N209I) was identified in ECSIT which resulted in a hypertrophic cardiomyopathy phenotype in homozygous mutant animals. Further investigation revealed this phenotype to be a result of a loss of function in ECSIT’s role as a complex …
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