701 related articles for article (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; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM
Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399
[TBL] [Abstract][Full Text] [Related]
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; 293(13):4870-4882. PubMed ID: 29440396
[TBL] [Abstract][Full Text] [Related]
3. Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
Uehara T; Abe K; Oginuma M; Ishitani S; Yoshihashi H; Okamoto N; Takenouchi T; Kosaki K; Ishitani T
Sci Rep; 2020 Oct; 10(1):17575. PubMed ID: 33067521
[TBL] [Abstract][Full Text] [Related]
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; ; 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; 137(5):375-388. PubMed ID: 29740699
[TBL] [Abstract][Full Text] [Related]
5. 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; ; Chao HT; Long H; Feng L; Bacino CA; Bellen HJ; Xiao B
Am J Hum Genet; 2020 May; 106(5):717-725. PubMed ID: 32330417
[TBL] [Abstract][Full Text] [Related]
6. 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; 110(9):2246-9. PubMed ID: 24642626
[TBL] [Abstract][Full Text] [Related]
7. 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; 21(12):2713-2722. PubMed ID: 31155615
[TBL] [Abstract][Full Text] [Related]
8. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z; Zhang Y; Song Z; Pan H; Yang C; Li F; Xue J; Qu Z
Ital J Pediatr; 2020 Jul; 46(1):95. PubMed ID: 32646507
[TBL] [Abstract][Full Text] [Related]
9. 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; 60(9):451-464. PubMed ID: 28645799
[TBL] [Abstract][Full Text] [Related]
10. Heterozygous mutations affecting the protein kinase domain of
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; 55(1):28-38. PubMed ID: 29021403
[TBL] [Abstract][Full Text] [Related]
11. 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; 117(6):2894-2905. PubMed ID: 31988137
[TBL] [Abstract][Full Text] [Related]
12. 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; ; 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; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
13. 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; 80(6):809-815. PubMed ID: 27500536
[TBL] [Abstract][Full Text] [Related]
14. 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; 21(10):1100-4. PubMed ID: 23403903
[TBL] [Abstract][Full Text] [Related]
15. 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; 38(11):. PubMed ID: 29507187
[TBL] [Abstract][Full Text] [Related]
16. 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; 19(2):93-103. PubMed ID: 29511999
[TBL] [Abstract][Full Text] [Related]
17. 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; 93(5):1000-1007. PubMed ID: 29393965
[TBL] [Abstract][Full Text] [Related]
18. 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; 62(2):129-136. PubMed ID: 29959045
[TBL] [Abstract][Full Text] [Related]
19. 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; 185(2):584-590. PubMed ID: 33258286
[TBL] [Abstract][Full Text] [Related]
20. Redefining the MED13L syndrome.
Adegbola A; Musante L; Callewaert B; Maciel P; Hu H; Isidor B; Picker-Minh S; Le Caignec C; Delle Chiaie B; Vanakker O; Menten B; Dheedene A; Bockaert N; Roelens F; Decaestecker K; Silva J; Soares G; Lopes F; Najmabadi H; Kahrizi K; Cox GF; Angus SP; Staropoli JF; Fischer U; Suckow V; Bartsch O; Chess A; Ropers HH; Wienker TF; Hübner C; Kaindl AM; Kalscheuer VM
Eur J Hum Genet; 2015 Oct; 23(10):1308-17. PubMed ID: 25758992
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
