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728 related items for PubMed ID: 30905399

  • 1. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
    Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, Deciphering Developmental Disorders StudyDeciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK., van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.
    Am J Hum Genet; 2019 Apr 04; 104(4):709-720. PubMed ID: 30905399
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  • 2. Oncogenic exon 2 mutations in Mediator subunit MED12 disrupt allosteric activation of cyclin C-CDK8/19.
    Park MJ, Shen H, Spaeth JM, Tolvanen JH, Failor C, Knudtson JF, McLaughlin J, Halder SK, Yang Q, Bulun SE, Al-Hendy A, Schenken RS, Aaltonen LA, Boyer TG.
    J Biol Chem; 2018 Mar 30; 293(13):4870-4882. PubMed ID: 29440396
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  • 4. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
    Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM.
    Hum Genet; 2018 May 30; 137(5):375-388. PubMed ID: 29740699
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  • 6. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
    Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B.
    Am J Hum Genet; 2020 May 07; 106(5):717-725. PubMed ID: 32330417
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  • 7. Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas.
    Mäkinen N, Heinonen HR, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA.
    Br J Cancer; 2014 Apr 29; 110(9):2246-9. PubMed ID: 24642626
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  • 8. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
    Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.
    Genet Med; 2019 Dec 29; 21(12):2713-2722. PubMed ID: 31155615
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  • 10. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep 29; 60(9):451-464. PubMed ID: 28645799
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  • 11. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
    Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.
    J Med Genet; 2018 Jan 29; 55(1):28-38. PubMed ID: 29021403
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  • 12. A precisely positioned MED12 activation helix stimulates CDK8 kinase activity.
    Klatt F, Leitner A, Kim IV, Ho-Xuan H, Schneider EV, Langhammer F, Weinmann R, Müller MR, Huber R, Meister G, Kuhn CD.
    Proc Natl Acad Sci U S A; 2020 Feb 11; 117(6):2894-2905. PubMed ID: 31988137
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  • 13. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
    Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.
    Am J Hum Genet; 2018 Jul 05; 103(1):154-162. PubMed ID: 29961569
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  • 14. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
    Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F.
    Pediatr Res; 2016 Dec 05; 80(6):809-815. PubMed ID: 27500536
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  • 15. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
    Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A.
    Eur J Hum Genet; 2013 Oct 05; 21(10):1100-4. PubMed ID: 23403903
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  • 16. Depletion of Mediator Kinase Module Subunits Represses Superenhancer-Associated Genes in Colon Cancer Cells.
    Kuuluvainen E, Domènech-Moreno E, Niemelä EH, Mäkelä TP.
    Mol Cell Biol; 2018 Jun 01; 38(11):. PubMed ID: 29507187
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  • 17. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
    Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.
    Neurogenetics; 2018 May 01; 19(2):93-103. PubMed ID: 29511999
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  • 18. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.
    Clin Genet; 2018 May 01; 93(5):1000-1007. PubMed ID: 29393965
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  • 19. Is MED13L-related intellectual disability a recognizable syndrome?
    Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.
    Eur J Med Genet; 2019 Feb 01; 62(2):129-136. PubMed ID: 29959045
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  • 20. Could the MED13 mutations manifest as a Kabuki-like syndrome?
    De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E.
    Am J Med Genet A; 2021 Feb 01; 185(2):584-590. PubMed ID: 33258286
    [Abstract] [Full Text] [Related]

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