225 related articles for article (PubMed ID: 32330417)
1. 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]
2. 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]
3. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate YA; Uehara T; Abe K; Oginuma M; Harako S; Ishitani S; Lehesjoki AE; Bierhals T; Kloth K; Ehmke N; Horn D; Holtgrewe M; Anderson K; Viskochil D; Edgar-Zarate CL; Sacoto MJG; Schnur RE; Morrow MM; Sanchez-Valle A; Pappas J; Rabin R; Muona M; Anttonen AK; Platzer K; Luppe J; Gburek-Augustat J; Kaname T; Okamoto N; Mizuno S; Kaido Y; Ohkuma Y; Hirose Y; Ishitani T; Kosaki K
Genet Med; 2021 Jun; 23(6):1050-1057. PubMed ID: 33495529
[TBL] [Abstract][Full Text] [Related]
4. Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.
Liao JZ; Chung HL; Shih C; Wong KKL; Dutta D; Nil Z; Burns CG; Kanca O; Park YJ; Zuo Z; Marcogliese PC; Sew K; Bellen HJ; Verheyen EM
Nat Commun; 2024 Apr; 15(1):3326. PubMed ID: 38637532
[TBL] [Abstract][Full Text] [Related]
5. A novel variant of
Yang S; Yu W; Chen Q; Wang X
Cold Spring Harb Mol Case Stud; 2021 Apr; 7(2):. PubMed ID: 33568421
[TBL] [Abstract][Full Text] [Related]
6. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O; Andrews JC; Lee PT; Patel C; Braddock SR; Slavotinek AM; Cohen JS; Gubbels CS; Aldinger KA; Williams J; Indaram M; Fatemi A; Yu TW; Agrawal PB; Vezina G; Simons C; Crawford J; Lau CC; ; Chung WK; Markello TC; Dobyns WB; Adams DR; Gahl WA; Wangler MF; Yamamoto S; Bellen HJ; Malicdan MCV
Am J Hum Genet; 2019 Aug; 105(2):413-424. PubMed ID: 31327508
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
Mukhopadhyay A; Kramer JM; Merkx G; Lugtenberg D; Smeets DF; Oortveld MA; Blokland EA; Agrawal J; Schenck A; van Bokhoven H; Huys E; Schoenmakers EF; van Kessel AG; van Nouhuys CE; Cremers FP
Hum Genet; 2010 Sep; 128(3):281-91. PubMed ID: 20563892
[TBL] [Abstract][Full Text] [Related]
9. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD; Cope H; Nil Z; Ravenscroft TA; Charng WL; Lu S; Tien AC; Pfundt R; Koolen DA; Haaxma CA; Veenstra-Knol HE; Wassink-Ruiter JSK; Wevers MR; Jones M; Walsh LE; Klee VH; Theunis M; Legius E; Steel D; Barwick KES; Kurian MA; Mohammad SS; Dale RC; Terhal PA; van Binsbergen E; Kirmse B; Robinette B; Cogné B; Isidor B; Grebe TA; Kulch P; Hainline BE; Sapp K; Morava E; Klee EW; Macke EL; Trapane P; Spencer C; Si Y; Begtrup A; Moulton MJ; Dutta D; Kanca O; ; Wangler MF; Yamamoto S; Bellen HJ; Tan QK
Am J Hum Genet; 2021 Sep; 108(9):1669-1691. PubMed ID: 34314705
[TBL] [Abstract][Full Text] [Related]
10. Allelic strengths of encephalopathy-associated
Pan X; Alvarez AN; Ma M; Lu S; Crawford MW; Briere LC; Kanca O; Yamamoto S; Sweetser DA; Wilson JL; Napier RJ; Pruneda JN; Bellen HJ
Elife; 2023 Dec; 12():. PubMed ID: 38079206
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Pan-Cancer Analysis of the Mediator Complex Transcriptome Identifies CDK19 and CDK8 as Therapeutic Targets in Advanced Prostate Cancer.
Brägelmann J; Klümper N; Offermann A; von Mässenhausen A; Böhm D; Deng M; Queisser A; Sanders C; Syring I; Merseburger AS; Vogel W; Sievers E; Vlasic I; Carlsson J; Andrén O; Brossart P; Duensing S; Svensson MA; Adler D; Kirfel J; Perner S
Clin Cancer Res; 2017 Apr; 23(7):1829-1840. PubMed ID: 27678455
[No Abstract] [Full Text] [Related]
13. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM; Liu Y; Koko M; Gjerulfsen CE; Sonnenberg L; Schubert J; Fenger CD; Eltokhi A; Rannap M; Koch NA; Lauxmann S; Krüger J; Kegele J; Canafoglia L; Franceschetti S; Mayer T; Rebstock J; Zacher P; Ruf S; Alber M; Sterbova K; Lassuthová P; Vlckova M; Lemke JR; Platzer K; Krey I; Heine C; Wieczorek D; Kroell-Seger J; Lund C; Klein KM; Au PYB; Rho JM; Ho AW; Masnada S; Veggiotti P; Giordano L; Accorsi P; Hoei-Hansen CE; Striano P; Zara F; Verhelst H; Verhoeven JS; Braakman HMH; van der Zwaag B; Harder AVE; Brilstra E; Pendziwiat M; Lebon S; Vaccarezza M; Le NM; Christensen J; Grønborg S; Scherer SW; Howe J; Fazeli W; Howell KB; Leventer R; Stutterd C; Walsh S; Gerard M; Gerard B; Matricardi S; Bonardi CM; Sartori S; Berger A; Hoffman-Zacharska D; Mastrangelo M; Darra F; Vøllo A; Motazacker MM; Lakeman P; Nizon M; Betzler C; Altuzarra C; Caume R; Roubertie A; Gélisse P; Marini C; Guerrini R; Bilan F; Tibussek D; Koch-Hogrebe M; Perry MS; Ichikawa S; Dadali E; Sharkov A; Mishina I; Abramov M; Kanivets I; Korostelev S; Kutsev S; Wain KE; Eisenhauer N; Wagner M; Savatt JM; Müller-Schlüter K; Bassan H; Borovikov A; Nassogne MC; Destrée A; Schoonjans AS; Meuwissen M; Buzatu M; Jansen A; Scalais E; Srivastava S; Tan WH; Olson HE; Loddenkemper T; Poduri A; Helbig KL; Helbig I; Fitzgerald MP; Goldberg EM; Roser T; Borggraefe I; Brünger T; May P; Lal D; Lederer D; Rubboli G; Heyne HO; Lesca G; Hedrich UBS; Benda J; Gardella E; Lerche H; Møller RS
Brain; 2022 Sep; 145(9):2991-3009. PubMed ID: 34431999
[TBL] [Abstract][Full Text] [Related]
14. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Schneider AL; Myers CT; Muir AM; Calvert S; Basinger A; Perry MS; Rodan L; Helbig KL; Chambers C; Gorman KM; King MD; Donkervoort S; Soldatos A; Bönnemann CG; Spataro N; Gabau E; Arellano M; Cappuccio G; Brunetti-Pierri N; Rossignol E; Hamdan FF; Michaud JL; Balak C; Mefford HC; Scheffer IE
Epilepsia; 2021 Jan; 62(1):e13-e21. PubMed ID: 33280099
[TBL] [Abstract][Full Text] [Related]
15. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Reis LM; Sorokina EA; Thompson S; Muheisen S; Velinov M; Zamora C; Aylsworth AS; Semina EV
Am J Hum Genet; 2019 Aug; 105(2):425-433. PubMed ID: 31327510
[TBL] [Abstract][Full Text] [Related]
16. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS; Duncan AR; Genetti CA; Pan H; Jackson A; Grant PE; Shi J; Pinelli M; Brunetti-Pierri N; Garza-Flores A; Shahani D; Saneto RP; Zampino G; Leoni C; Agolini E; Novelli A; Blümlein U; Haack TB; Heinritz W; Matzker E; Alhaddad B; Abou Jamra R; Bartolomaeus T; AlHamdan S; Carapito R; Isidor B; Bahram S; Ritter A; Izumi K; Shakked BP; Barel O; Ben Zeev B; Begtrup A; Carere DA; Mullegama SV; Palculict TB; Calame DG; Schwan K; Aycinena ARP; Traberg R; ; Douzgou S; Pirt H; Ismayilova N; Banka S; Chao HT; Agrawal PB
Am J Hum Genet; 2023 Jan; 110(1):120-145. PubMed ID: 36528028
[TBL] [Abstract][Full Text] [Related]
17. Transcriptional Responses to IFN-γ Require Mediator Kinase-Dependent Pause Release and Mechanistically Distinct CDK8 and CDK19 Functions.
Steinparzer I; Sedlyarov V; Rubin JD; Eislmayr K; Galbraith MD; Levandowski CB; Vcelkova T; Sneezum L; Wascher F; Amman F; Kleinova R; Bender H; Andrysik Z; Espinosa JM; Superti-Furga G; Dowell RD; Taatjes DJ; Kovarik P
Mol Cell; 2019 Nov; 76(3):485-499.e8. PubMed ID: 31495563
[TBL] [Abstract][Full Text] [Related]
18. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Hančárová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; Funari T; Giannuzzi G; Gruber-Sedlmayr U; Guex N; Heron D; Holla ØL; Hurst ACE; Juusola J; Kronn D; Lavrov A; Lee C; Lorrain S; Merckoll E; Mikhaleva A; Norman J; Pradervand S; Prchalová D; Rhodes L; Sanders VR; Sedláček Z; Seebacher HA; Sellars EA; Sirchia F; Takenouchi T; Tanaka AJ; Taska-Tench H; Tønne E; Tveten K; Vitiello G; Vlčková M; Uehara T; Nava C; Yalcin B; Kosaki K; Donnai D; Mundlos S; Brunetti-Pierri N; Chung WK; Reymond A
Am J Hum Genet; 2021 May; 108(5):857-873. PubMed ID: 33961779
[TBL] [Abstract][Full Text] [Related]
19.
Hubert L; Cannata Serio M; Villoing-Gaudé L; Boddaert N; Kaminska A; Rio M; Lyonnet S; Munnich A; Poirier K; Simons M; Besmond C
J Med Genet; 2020 Feb; 57(2):138-144. PubMed ID: 31439720
[TBL] [Abstract][Full Text] [Related]
20. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
