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Träfflista för sökning "WFRF:(Vaclavik Veronika) ;lar1:(lu)"

Search: WFRF:(Vaclavik Veronika) > Lund University

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1.
  • Bedoni, Nicola, et al. (author)
  • Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
  • 2016
  • In: Human Molecular Genetics. - 0964-6906. ; 25:20, s. 4546-4555
  • Journal article (peer-reviewed)abstract
    • Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. The two male patients carrying truncating TTLL5 variants also displayed a substantial reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. Defects in this polyglutamylase in humans have recently been associated with cone photoreceptor dystrophy, while mouse models carrying truncating mutations in the same gene also display reduced fertility in male animals. We examined the expression levels of TTLL5 in various human tissues and determined that this gene has multiple viable isoforms, being highly expressed in testis and retina. In addition, antibodies against TTLL5 stained the basal body of photoreceptor cells in rat and the centrosome of the spermatozoon flagellum in humans, suggesting a common mechanism of action in these two cell types. Taken together, our data indicate that mutations in TTLL5 delineate a novel, allele-specific syndrome causing defects in two as yet pathogenically unrelated functions, reproduction and vision.
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2.
  • Kehoe, Laura, et al. (author)
  • Make EU trade with Brazil sustainable
  • 2019
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
  • Journal article (other academic/artistic)
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3.
  • Panneman, Daan M., et al. (author)
  • Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
  • 2023
  • In: Frontiers in Cell and Developmental Biology. - : Frontiers Media SA. - 2296-634X. ; 11
  • Journal article (peer-reviewed)abstract
    • Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.
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journal article (3)
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peer-reviewed (2)
other academic/artistic (1)
Author/Editor
Andréasson, Sten (2)
Rothhaupt, Karl-Otto (1)
Kjellström, Ulrika (1)
Weigend, Maximilian (1)
Farrell, Katharine N ... (1)
Islar, Mine (1)
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Krause, Torsten (1)
Uddling, Johan, 1972 (1)
Alexanderson, Helena (1)
Schneider, Christoph (1)
Battiston, Roberto (1)
Lukic, Marko (1)
Pereira, Laura (1)
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Cattaneo, Claudio (1)
Jung, Martin (1)
Andresen, Louise C. (1)
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Meyer, Carsten (1)
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Martin, Jean Louis (1)
Olsson, Urban (1)
Hortal, Joaquin (1)
Buckley, Yvonne (1)
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De Smedt, Pallieter (1)
Lindkvist, Emilie (1)
Matos-Maraví, Pável (1)
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Silvestro, Daniele (1)
Black, Graeme C. M. (1)
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McPhearson, Timon (1)
Tengö, Maria (1)
Morales, Manuel B. (1)
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University
Lund University  (3)Undo refine
Royal Institute of Technology (1)
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Chalmers University of Technology (1)
Swedish University of Agricultural Sciences (1)
Language
English (3)
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