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Fletta eftir efnisorði "Genetics (clinical)"

Fletta eftir efnisorði "Genetics (clinical)"

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    Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model 
    Goodman, Sarah Jessica; Luperchio, Teresa Romeo; Ellegood, Jacob; Chater-Diehl, Eric; Lerch, Jason P.; Björnsson, Hans Tómas; Weksberg, Rosanna (2023-12)
    Background: Recent findings from studies of mouse models of Mendelian disorders of epigenetic machinery strongly support the potential for postnatal therapies to improve neurobehavioral and cognitive deficits. As several of these therapies move into ...
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    Polygenic risk modeling for prediction of epithelial ovarian cancer risk 
    GEMO Study Collaborators; Barkardóttir, Rósa Björk; Jóhannsson, Óskar Þór (2022-01-14)
    Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches ...
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    Polygenic risk prediction : why and when out-of-sample prediction R2 can exceed SNP-based heritability 
    Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (2023-07-06)
    In polygenic score (PGS) analysis, the coefficient of determination (R2) is a key statistic to evaluate efficacy. R2 is the proportion of phenotypic variance explained by the PGS, calculated in a cohort that is independent of the genome-wide association ...
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    A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome 
    Klemenzdottir, Elin Ola; Arnadottir, Gudny A; Jensson, Brynjar Orn; Jonasdottir, Adalbjorg; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudjonsson, Sigurjon Axel; Jónsson, Jón Jóhannes; Stefánsdóttir, Vigdís Fjóla; Danielsen, Ragnar; Palsdottir, Astridur; Jonsson, Hakon; Helgason, Agnar Sturla; Magnusson, Olafur Thor; Thorsteinsdottir, Unnur; Björnsson, Hans Tómas; Stefansson, Kari; Sulem, Patrick (2023)
    Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland ...
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    Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitfmi/+ Mice 
    Llorca, Andrea Garcia; Ólafsson, Knútur Haukstein; Sigurdsson, Arnór Thorri; Eysteinsson, Þór (2023-07-17)
    Mutations in the mouse microphthalmia-associated transcription factor (Mitf) gene affect retinal pigment epithelium (RPE) differentiation and development and can lead to hypopigmentation, microphthalmia, deafness, and blindness. For instance, an ...
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    Sequence variants in malignant hyperthermia genes in Iceland : classification and actionable findings in a population database 
    Fridriksdottir, Run; Jónsson, Arnar Jan; Jensson, Brynjar O.; Sverrisson, Kristinn O.; Arnadottir, Gudny A.; Skarphéðinsdóttir, Sigurbjorg J.; Katrinardottir, Hildigunnur; Snaebjornsdottir, Steinunn; Jonsson, Hakon; Eiriksson, Ogmundur; Óskarsson, Guðjón Reykdal; Oddsson, Asmundur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Gisli H.; Indriðason, Einar Páll; Sigurðsson, Stefán B.; Bjornsdottir, Gyda; Saemundsdottir, Jona; Magnusson, Olafur T.; Björnsson, Hans Tómas; Thorsteinsdottir, Unnur; Sigurdsson, Theodor S.; Sulem, Patrick; Sigurðsson, Martin Ingi; Stefansson, Kari (2021-08-31)
    Malignant hyperthermia (MH) susceptibility is a rare life-threatening disorder that occurs upon exposure to a triggering agent. MH is commonly due to protein-altering variants in RYR1 and CACNA1S. The American College of Medical Genetics and Genomics ...
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    Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome 
    Ng, Rowena; Björnsson, Hans Tómas; Fahrner, Jill A.; Harris, Jacqueline R. (2022-10-13)
    Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder caused by mutation in KMT2A and characterized by neurodevelopmental delay. This study is the first prospective investigation to examine the sleep and behavioral phenotypes among those with WSS ...
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    TFAP2 paralogs facilitate chromatin access for MITF at pigmentation and cell proliferation genes 
    Kenny, Colin; Dilshat, Ramile; Seberg, Hannah E.; Van Otterloo, Eric; Bonde, Gregory; Helverson, Annika; Franke, Christopher M.; Steingrímsson, Eiríkur; Cornell, Robert A. (2022-05-17)
    In developing melanocytes and in melanoma cells, multiple paralogs of the Activating-enhancer-binding Protein 2 family of transcription factors (TFAP2) contribute to expression of genes encoding pigmentation regulators, but their interaction with ...
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    The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice 
    Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefánsdóttir, Vigdís Fjóla; van El, Carla; Genuardi, Maurizio; Peterlin, Borut; Oliveira, Carla; Writzl, Karin; Houge, Gunnar Douzgos; Cordier, Christophe; Howard, Heidi; Macek, Milan; Melegh, Béla; Mendes, Alvaro; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Ulph, Fiona; Jamshidi, Yalda (2022-05)
    Y Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that ...