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 297 for “"recessive"”.
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Recessive lethal amber suppressors in yeast
Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, 1975
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Molecular genetic investigation of autosomal recessive neurodevelopmental disorders
… defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a novel homozygous pathogenic mutation of PLCB1. I have also utilised autozygosity mapping techniques to study …
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Autosomal recessive hearing impairment. Hearing of & listening to patients
Contains fulltext : 156495.pdf (Publisher’s version ) (Open Access)
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Studies of the Recessive Bb Locus in Drosophila Melanogaster
Made available in DSpace on 2015-05-14T19:05:45Z (GMT). No. of bitstreams: 2 license.txt: 4848 bytes, checksum: 96035ab3f5e1c23cc7138a224ce498bd (MD5) 7013453.PDF: 1221543 bytes, checksum: 814ead1f07f3651dae944fc432dd6e41 (MD5) Previous issue date: 1969
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Recessive and rare variant effects on common diseases and the immune cell transcriptome
… of a trait, and in this thesis I focused on recessive effects and rare, loss-of-function variant (LoF) effects. Genes & Health (G&H) is a cohort of ~50,000 British South Asians with elevated rates of consanguinity and consequently, increased homozygosity, therefore making it a suitable cohort …
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
The main gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) is PKHD1 which encodes a ciliary protein associated with planar cell polarity. In mice, mutations in the transcription factor Atmin can present with an ARPKD-like phenotype with kidney disease similar to an early …
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An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD)
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that manifests with bilaterally enlarged, cystic kidneys, hepatic fibrosis and pulmonary hypoplasia, with death reported in around 30 – 50% of affected neonates. Mutations in PKHD1 and DZIP1L have been identified as …
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Isolation of Recessive Temperature Sensitive Mutants on the Third Chromosome of <em>Drosophila melanogaster</em>.
The present extent of our knowledge of genetic and bio-chemical mechanisms has been derived largely from studies utilizing microorganisms, and more specifically a class of microbial mutants known as conditional lethal mutants. These mutations, which allow survival in a "permissive" environment, but …
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Identification of OATP1B3 as a potential therapeutic target in Recessive Dystrophic Epidermolysis Bullosa Associated Squamous Cell Carcinoma
… involving trauma induced blistering of the skin. Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most debilitating variants of the disease and patients are predisposed to developing aggressive cutaneous Squamous Cell Carcinoma (SCC). Unlike SCC in the general population, the …
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Effects of Viviparous Recessive Genes, Vp1, and Vp5, on Metabolism and Inhibitor Content of Developing Maize Kernels
Made available in DSpace on 2014-12-12T00:57:19Z (GMT). No. of bitstreams: 1 7207109.pdf: 2197626 bytes, checksum: a4ba23b25a13dfe1103d01fbed289d03 (MD5) Previous issue date: 1971
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Use of a translocation and a recessive deleterious gene to retard population growth in Blattella germanica (L.)
… for the translocation T(8;9) and the recessive deleterious gene sty were made into laboratory populations of Blattella germanica to study the effect of this genetic load on population growth. Five experimental populations and one control were followed by monthly census for eight …
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The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa
… now being shown to underlie the rare autosomal recessive forms of hypercholesterolemia (ARH). One of these proteins is the LDLr adaptor protein know as ARH, which is presumed to facilitate interaction of the cytoplasmic tail of the LDLr with the internal protein matrix required for the receptor …
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The Effect of Spermidine on the Rate of Sex-Linked Recessive Lethals Caused by X-Ray in Drosophila Melanogaster
… would change the expected number of sex-linked recessive lethal mutations. Procedure. Adult male wild-type "Drosophila" were treated in four ways. The four treatments, administered via feeding in a medium with dimethyl sulfoxide, were Control, X-ray, spermidine, or spermidine and X-ray. Treated …
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Cytological and Ultrastructural Observations of Lethal Recessive T(12) Homozygotes and Normal Preimplantation Stages of the Mouse, Mus Musculus
Made available in DSpace on 2015-05-13T22:11:50Z (GMT). No. of bitstreams: 2 license.txt: 4848 bytes, checksum: 96035ab3f5e1c23cc7138a224ce498bd (MD5) 6901308.PDF: 7632630 bytes, checksum: e5d93d8e415ec7e4baeb63180ff3959d (MD5) Previous issue date: 1968
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Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing
… non-syndromic (NS). The mode of inheritance is recessive in nearly 77% of non-syndromic HL. Up to date, more than 100 genes have been associated with HL harbouring more than 1000 causative variants. In many populations of European and Asian descent, pathogenic variants in GJB2 (connexin gene 26) …
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