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1.	Walton, E, et al. (author) Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa 2019 In: Molecular neurobiology. - : Springer Science and Business Media LLC. - 1559-1182 .- 0893-7648. ; 56:7, s. 5146-5156 Journal article (peer-reviewed)
2.	Lee, PH, et al. (author) Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders 2019 In: Cell. - : Elsevier BV. - 1097-4172 .- 0092-8674. ; 179:7, s. 1469- Journal article (peer-reviewed)
3.	Yao, SY, et al. (author) Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches 2019 In: Biological psychiatry. - : Elsevier BV. - 1873-2402 .- 0006-3223. ; 86:8, s. 577-586 Journal article (peer-reviewed)
4.	Wallace, Stephanie E., et al. (author) MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants 2019 In: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 21:1, s. 144-151 Journal article (peer-reviewed)abstract Purpose: Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information to guide aortic disease management are limited.Methods: Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants on kinase activity was assessed.Results: Twenty-three individuals (39%) experienced an aortic event (defined as aneurysm repair or dissection); the majority of these events (87%) were aortic dissections. Aortic diameters were minimally enlarged at the time of dissection in many cases. Time-to-aortic-event curves showed that missense pathogenic variant (PV) carriers have earlier-onset aortic events than null PV carriers. An MYLK missense variant segregated with aortic disease over five generations but decreases MYLK kinase acitivity marginally. Functional Assays fail to identify all pathogenic variants in MYLK.Conclusion: These data further define the aortic phenotype associated with MYLKpathogenic variants. Given minimal aortic enlargement before dissection, an alternative approach to guide the timing of aortic repair is proposed based on the probability of a dissection at a given age.

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Type of publication: journal article (4)

Type of content: peer-reviewed (4)

Author/Editor: Kaprio, J (3); Li, D. (3); Johnson, C. (3); KLARESKOG, L (3); Roberts, M. (3); Mitchell, J. (3); show more...; Bulik, CM (3); Egberts, K. (3); Breen, G (3); Landen, M (3); Foretova, L (3); Schmidt, U. (3); Rujescu, D (3); Wagner, G (3); Alfredsson, L (3); Ehrlich, S (3); Walton, E (3); Cichon, S (3); Espeseth, T (3); Le Hellard, S (3); Lissowska, J (3); Ripke, S (3); Lichtenstein, P. (3); Palotie, A (3); Reichborn-Kjennerud, ... (3); Ando, T. (3); Dina, C (3); Metspalu, A (3); Jimenez-Murcia, S (3); Fernandez-Aranda, F (3); Hakonarson, H (3); Hauser, J. (3); Herms, S. (3); Tortorella, A. (3); Monteleone, P. (3); Maj, M. (3); Clementi, M (3); Kaminska, D. (3); Crawford, S. (3); Brandt, H (3); Strober, M (3); Woodside, DB (3); Jordan, J (3); Navratilova, M (3); Seitz, J. (3); Treasure, J (3); Birgegard, A (3); Gorwood, P (3); Wichmann, HE (3); Bencko, V (3); show less...

University: Karolinska Institutet (3); University of Gothenburg (2); Umeå University (1); Örebro University (1)

Language: English (4)

Research subject (UKÄ/SCB): Medical and Health Sciences (2); Natural sciences (1)

Year: 2019 (4)Undo refine

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