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Browsing by Subject "Genetics (clinical)"

Browsing by Subject "Genetics (clinical)"

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    Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency 
    Runólfsdóttir, Hrafnhildur L.; Sayer, John A.; Indridason, Olafur S.; Eðvarðsson, Viðar Örn; Jensson, Brynjar O.; Arnadottir, Gudny A.; Gudjonsson, Sigurjon A.; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari; Pálsson, Runólfur (2021-03-11)
    Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, ...
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    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 
    Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Björnsson, Hans Tómas; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth (2021-07)
    Purpose: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Methods: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. Results: ...
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    Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia 
    Agnarsdóttir, Dagbjört; Sigurjónsdóttir, Vaka Kristín; Emilsdóttir, Arna Rut; Petersen, Erna; Sigfússon, Gunnlaugur; Rögnvaldsson, Ingólfur; Franzson, Leifur; Vernon, Hilary; Björnsson, Hans Tómas (2022-06-16)
    Background: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder ...
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    Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus 
    Van Zuydam, Natalie R.; Ladenvall, Claes; Voight, Benjamin F.; Strawbridge, Rona J.; Fernandez-Tajes, Juan; Rayner, N. William; Robertson, Neil R.; Mahajan, Anubha; Vlachopoulou, Efthymia; Goel, Anuj; Kleber, Marcus E.; Nelson, Christopher P.; Kwee, Lydia Coulter; Esko, Tõnu; Mihailov, Evelin; Mägi, Reedik; Milani, Lili; Fischer, Krista; Kanoni, Stavroula; Kumar, Jitender; Song, Ci; Hartiala, Jaana A.; Pedersen, Nancy L.; Perola, Markus; Gieger, Christian; Peters, Annette; Qu, Liming; Willems, Sara M.; Doney, Alex S.F.; Morris, Andrew D.; Zheng, Yan; Sesti, Giorgio; Hu, Frank B.; Qi, Lu; Laakso, Markku; Thorsteinsdottir, Unnur; Grallert, Harald; Van Duijn, Cornelia; Reilly, Muredach P.; Ingelsson, Erik; Deloukas, Panos; Kathiresan, Sek; Metspalu, Andres; Shah, Svati H.; Sinisalo, Juha; Salomaa, Veikko; Hamsten, Anders; Samani, Nilesh J.; März, Winfried; Hazen, Stanley L. (2020-12-01)
    Background: Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D). Methods: To test whether this reflects differential genetic influences on CAD risk in subjects with T2D, we performed a systematic assessment of ...
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    The genetic structure of Norway 
    Mattingsdal, Morten; Ebenesersdóttir, Sigríður Sunna; Moore, Kristjan Helgi Swerford; Andreassen, Ole A.; Hansen, Thomas Folkmann; Werge, Thomas M.; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Helgason, Agnar Sturla; Stefánsson, Kári; Hovig, Eivind (2021-11)
    The aim of the present study was to describe the genetic structure of the Norwegian population using genotypes from 6369 unrelated individuals with detailed information about places of residence. Using standard single marker- and haplotype-based ...
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    Genome-wide association study of circulating interleukin 6 levels identifies novel loci 
    Ahluwalia, Tarunveer S.; Prins, Bram P.; Abdollahi, Mohammadreza; Armstrong, Nicola J.; Aslibekyan, Stella; Bain, Lisa; Jefferis, Barbara; Baumert, Jens; Beekman, Marian; Ben-Shlomo, Yoav; Bis, Joshua C.; Mitchell, Braxton D.; De Geus, Eco; Delgado, Graciela E.; Marek, Diana; Eriksson, Joel; Kajantie, Eero; Kanoni, Stavroula; Kemp, John P.; Lu, Chen; Marioni, Riccardo E.; McLachlan, Stela; Milaneschi, Yuri; Nolte, Ilja M.; Petrelis, Alexandros M.; Porcu, Eleonora; Sabater-Lleal, Maria; Naderi, Elnaz; Seppälä, Ilkka; Shah, Tina; Singhal, Gaurav; Standl, Marie; Teumer, Alexander; Thalamuthu, Anbupalam; Thiering, Elisabeth; Trompet, Stella; Ballantyne, Christie M.; Benjamin, Emelia J.; Casas, Juan P.; Toben, Catherine; Dedoussis, George; Deelen, Joris; Durda, Peter; Engmann, Jorgen; Feitosa, Mary F.; Grallert, Harald; Hammarstedt, Ann; Harris, Sarah E.; Homuth, Georg; Guðnason, Vilmundur G. (2021-01-30)
    Interleukin 6 (IL-6) is a multifunctional cytokine with both pro-A nd anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease ...
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    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 
    TUDP Study Group; Broad Center for Mendelian Genomics (2022-04-01)
    Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been ...
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    H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts 
    Pei, Jiayi; Harakalova, Magdalena; Treibel, Thomas A.; Lumbers, R. Thomas; Boukens, Bastiaan J.; Efimov, Igor R.; Van Dinter, Jip T.; González, Arantxa; López, Begoña; El Azzouzi, Hamid; Van Den Dungen, Noortje; Van Dijk, Christian G.M.; Krebber, Merle M.; Den Ruijter, Hester M.; Pasterkamp, Gerard; Duncker, Dirk J.; Nieuwenhuis, Edward E.S.; De Weger, Roel; Huibers, Manon M.; Vink, Aryan; Moore, Jason H.; Moon, James C.; Verhaar, Marianne C.; Kararigas, Georgios; Mokry, Michal; Asselbergs, Folkert W.; Cheng, Caroline (2020-07-14)
    Background: H3K27ac histone acetylome changes contribute to the phenotypic response in heart diseases, particularly in end-stage heart failure. However, such epigenetic alterations have not been systematically investigated in remodeled non-failing human ...
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    Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life 
    Luperchio, Teresa Romeo; Applegate, Carolyn D.; Bodamer, Olaf; Björnsson, Hans Tómas (2020-02-01)
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    Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2 
    Reynisdóttir, Tinna; Anderson, Kimberley Jade; Boukas, Leandros; Björnsson, Hans Tómas (2022-06-21)
    Wiedemann-Steiner syndrome (WDSTS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WDSTS, we examined the spatial ...
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    Molecular genetics of inherited retinal degenerations in Icelandic patients 
    Thorsteinsson, Daniel A.; Stefánsdóttir, Vigdís Fjóla; Eysteinsson, Þór; Thorisdottir, Sigridur; Jónsson, Jón Jóhannes (2021-08)
    The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous ...
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    A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids 
    Million Veterans Program; Global Lipids Genetics Consortium (2022-08-04)
    A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of ...
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    Neurobehavioral phenotype of Kabuki syndrome : Anxiety is a common feature 
    Kalinousky, Allison; Rapp, Tyler; Hijazi, Hadia; Johnson, Jennifer; Björnsson, Hans Tómas; Harris, Jacqueline R. (2022-10-06)
    Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34–76%) or KDM6A (9–13%). Previously, representative ...
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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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    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.; Indridason, Einar P.; 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 ...