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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

Publikováno v: Human Molecular Genetics
Evers, J M G, Laskowski, R A, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, J A, Kingston, H, Kini, U, Lampe, A K, Lim, D, Male, A, Naik, S, Parker, M J, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, J M, The DDD Study & Wright, C F 2017, ' Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders ', Human Molecular Genetics, vol. 26, no. 3, pp. 519-526 . https://doi.org/10.1093/hmg/ddw409

Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five missense mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67da18768fd45722d73b13bfa4f3ab2
http://europepmc.org/articles/PMC5409128

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Akademický článek

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 .

Autor: Suri M; Nottingham Regional Genetics ServiceNottingham University Hospitals NHS TrustCity Hospital Campus, The Gables, Hucknall RoadNottinghamNG5 1PBUK., Evers JMG; European Bioinformatics Institute (EMBL-EBI)Wellcome Genome Campus, HinxtonCambridgeCB10 1SDUK., Laskowski RA; European Bioinformatics Institute (EMBL-EBI)Wellcome Genome Campus, HinxtonCambridgeCB10 1SDUK., O'Brien S; MRC Cognition and Brain Sciences Unit15 Chaucer RoadCambridgeCB2 7EFUK., Baker K; MRC Cognition and Brain Sciences Unit15 Chaucer RoadCambridgeCB2 7EFUK.; Department of Medical GeneticsUniversity of CambridgeCambridge Biomedical CampusCambridgeCB2 0QQUK., Clayton-Smith J; Manchester Centre for Genomic MedicineSt Mary's Hospital, Central Manchester University Hospitals NHS Foundation TrustManchester Academic Health Science CentreManchesterM13 9WLUK., Dabir T; Northern Ireland Regional Genetics CentreBelfast Health and Social Care TrustBelfast City HospitalLisburn RoadBelfastBT9 7ABUK., Josifova D; South East Thames Regional Genetics CentreGuy's and St Thomas' NHS Foundation TrustGuy's HospitalGreat Maze PondLondonSE1 9RTUK., Joss S; West of Scotland Genetics ServiceQueen Elizabeth University HospitalLaboratory Medicine BuildingGlasgowG51 4TFUK., Kerr B; Manchester Centre for Genomic MedicineSt Mary's Hospital, Central Manchester University Hospitals NHS Foundation TrustManchester Academic Health Science CentreManchesterM13 9WLUK., Kraus A; Yorkshire Regional Genetics ServiceDepartment of Clinical GeneticsLeeds Teaching Hospitals NHS TrustChapel Allerton HospitalChapeltown RoadLeedsLS7 4SAUK., McEntagart M; South West Thames Regional Genetics CentreSt George's Healthcare NHS TrustSt George's University of LondonCranmer TerraceLondonSW17 0REUK., Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health PartnersBirmingham Women's and Children's NHS Foundation TrustBirmingham Women's HospitalMindelsohn Way, EdgbastonBirminghamB15 2TGUK., Smith A; Yorkshire Regional Genetics ServiceDepartment of Clinical GeneticsLeeds Teaching Hospitals NHS TrustChapel Allerton HospitalChapeltown RoadLeedsLS7 4SAUK., Splitt M; Northern Genetics ServiceNewcastle upon Tyne Hospitals NHS Foundation TrustInstitute of Human GeneticsInternational Centre for LifeCentral ParkwayNewcastle upon TyneNE1 3BZUK., Thornton JM; European Bioinformatics Institute (EMBL-EBI)Wellcome Genome Campus, HinxtonCambridgeCB10 1SDUK., Wright CF; Wellcome Trust Sanger InstituteWellcome Genome Campus, HinxtonCambridgeCB1 8RQUK.; University of Exeter Medical SchoolRoyal Devon & Exeter HospitalBarrack RoadExeterEX2 5DWUK.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2017 Jun 20; Vol. 5 (5), pp. 495-507. Date of Electronic Publication: 2017 Jun 20 (Print Publication: 2017).

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Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Autor: Suri, M, Evers, JMG, Laskowski, RA, O'Brien, S, Baker, K, Clayton-Smith, J, Dabir, T, Josifova, D, Joss, S, Kerr, B, Kraus, A, McEntagart, M, Morton, J, Smith, A, Splitt, M, Thornton, JM, Wright, CF

Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane. Studies have shown that pathogenic loss-of-function variants in this gene result in various

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::24a3a639f9d8dc858a626c06c94e1627