Global ETD Search

1	Chromosome breakage studies in Fanconi's anaemia homozygotes and heterozygotes Rosendorff, Jennifer January 2015 (has links) No description available. Franconi's anemia--genetics. Chromosome Aberrations. Heterozygote. Homozygote.
2	Clinical and genetic studies on patients with cystinuria / Fjellstedt, Erik January 2003 (has links) (PDF) Diss. Linköping : Univ., 2003.
3	Characterization of cochlear degeneration in the inner ear of the German waltzing guinea pig : a morphological, cellular, and molecular study / Jin, Zhe, January 2006 (has links) Diss. (sammanfattning) Stockholm : Karolinska institutet, 2006. / Härtill 4 uppsatser.
4	Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement El-Asrag, M.E., Sergouniotis, P.I., McKibbin, M., Plagnol, V., Sheridan, E., Waseem, N., Abdelhamed, Z., McKeefry, Declan J., Van Schil, K., Poulter, J.A., UK Inherited Retinal Disease Consortium, Johnson, C.A., Carr, I.M., Leroy, B.P., Baere, E. de, Inglehearn, C.F., Webster, A.R., Toomes, C.l., Ali, M. 14 May 2015 (has links) No / Retinal dystrophies are an overlapping group of genetically heterogeneous conditions resulting from mutations in more than 250 genes. Here we describe five families affected by an adult-onset retinal dystrophy with early macular involvement and associated central visual loss in the third or fourth decade of life. Affected individuals were found to harbor disease-causing variants in DRAM2 (DNA-damage regulated autophagy modulator protein 2). Homozygosity mapping and exome sequencing in a large, consanguineous British family of Pakistani origin revealed a homozygous frameshift variant (c.140delG [p.Gly47Valfs∗3]) in nine affected family members. Sanger sequencing of DRAM2 in 322 unrelated probands with retinal dystrophy revealed one European subject with compound heterozygous DRAM2 changes (c.494G>A [p.Trp165∗] and c.131G>A [p.Ser44Asn]). Inspection of previously generated exome sequencing data in unsolved retinal dystrophy cases identified a homozygous variant in an individual of Indian origin (c.64_66del [p.Ala22del]). Independently, a gene-based case-control association study was conducted via an exome sequencing dataset of 18 phenotypically similar case subjects and 1,917 control subjects. Using a recessive model and a binomial test for rare, presumed biallelic, variants, we found DRAM2 to be the most statistically enriched gene; one subject was a homozygote (c.362A>T [p.His121Leu]) and another a compound heterozygote (c.79T>C [p.Tyr27His] and c.217_225del [p.Val73_Tyr75del]). DRAM2 encodes a transmembrane lysosomal protein thought to play a role in the initiation of autophagy. Immunohistochemical analysis showed DRAM2 localization to photoreceptor inner segments and to the apical surface of retinal pigment epithelial cells where it might be involved in the process of photoreceptor renewal and recycling to preserve visual function. Retinal dystrophy Macular involvement Central visual loss Autophagy Regulator DRAM2 Biallelic mutations Adult base sequence Exome Genetics Great Britain Homozygote Humans Immunohistochemistry Macular degeneration Pathology Membrane proteins Molecular sequence data mutation Pakistan Ethnology Retinal dystrophies Sequence Aaalysis DNA
5	The Characterisation of Putative Nuclear Pore-Anchoring Proteins in Arabidopsis thaliana Collins, Patrick January 2013 (has links) The nuclear pore complex (NPC) is perhaps the largest protein complex in the eukaryotic cell, and controls the movement of molecules across the nuclear envelope. The NPC is composed of up to 30 proteins termed nucleoporins (Nups), each grouped in different sub-complexes. The transmembrane ring sub-complex is composed of Nups responsible for anchoring the NPC to the nuclear envelope. Bioinformatic analysis has traced all major sub-complexes of the NPC back to the last eukaryotic common ancestor, meaning that the nuclear pore structure and function is conserved amongst all eukaryotes. In this study Arabidopsis T-DNA knockout lines for these genes were investigated to characterise gene function. Differences in plant growth and development were observed for the ndc1 knockout line compared to wild-type but gp210 plants showed no phenotypic differences. The double knockout line gp210 ndc1 was generated through crosses to observe plant response to the knockout of two anchoring-Nup genes. No synergistic affect from this double knockout was observed, suggesting that more, as yet unidentified Nups function the transmembrane ring in plants. The sensitivity to nuclear export inhibitor leptomycin B (LMB) was tested also for knockout lines, although growth sensitivity to the drug was not observed. Nucleocytoplasmic transport of knockout lines was measured in cells transformed by particle bombardment. To express fluorescent protein constructs actively transported through the NPC, localisation of protein determined the nucleocytoplasmic transport of the cell. The ndc1single knockout and the double knockout gp210 ndc1 exhibited decreased nuclear export. Further experiments in determining NDC1 localisation and identification of other Nups in the transmembrane ring sub-complex would bring a more comprehensive understanding to the plant NPC. Arabidopsis thaliana transformation insert transient expression epidermal cells root cells gene protein plant bolting flowering root growth knockout ndc1 gp210 At1g73240 At5g40480 SALK SAIL Columbia seed germination DNA sequencing light microscopy stereo-fluorescence microscopy DNA extraction cell nucleus cytoplasm nucleoplasm nuclear pore complex nucleoporin nuclear envelope putative nuclear pore-anchoring protein leptomycin B gene gun particle bombardment agrobacterium T-DNA fasciation rhodococcus fascians cross reverse genetics nucleocytoplasmic transport cross self synergistic silique transmembrane ring dihybrid pumilo homology domain protein GFP YFP RFP PCR homozygote heterozygote inhibition

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