274 related articles for article (PubMed ID: 32346159)
1. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Kummeling J; Stremmelaar DE; Raun N; Reijnders MRF; Willemsen MH; Ruiterkamp-Versteeg M; Schepens M; Man CCO; Gilissen C; Cho MT; McWalter K; Sinnema M; Wheless JW; Simon MEH; Genetti CA; Casey AM; Terhal PA; van der Smagt JJ; van Gassen KLI; Joset P; Bahr A; Steindl K; Rauch A; Keller E; Raas-Rothschild A; Koolen DA; Agrawal PB; Hoffman TL; Powell-Hamilton NN; Thiffault I; Engleman K; Zhou D; Bodamer O; Hoefele J; Riedhammer KM; Schwaibold EMC; Tasic V; Schubert D; Top D; Pfundt R; Higgs MR; Kramer JM; Kleefstra T
Mol Psychiatry; 2021 Jun; 26(6):2013-2024. PubMed ID: 32346159
[TBL] [Abstract][Full Text] [Related]
2. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Singh T; Kurki MI; Curtis D; Purcell SM; Crooks L; McRae J; Suvisaari J; Chheda H; Blackwood D; Breen G; Pietiläinen O; Gerety SS; Ayub M; Blyth M; Cole T; Collier D; Coomber EL; Craddock N; Daly MJ; Danesh J; DiForti M; Foster A; Freimer NB; Geschwind D; Johnstone M; Joss S; Kirov G; Körkkö J; Kuismin O; Holmans P; Hultman CM; Iyegbe C; Lönnqvist J; Männikkö M; McCarroll SA; McGuffin P; McIntosh AM; McQuillin A; Moilanen JS; Moore C; Murray RM; Newbury-Ecob R; Ouwehand W; Paunio T; Prigmore E; Rees E; Roberts D; Sambrook J; Sklar P; St Clair D; Veijola J; Walters JT; Williams H; ; ; ; ; Sullivan PF; Hurles ME; O'Donovan MC; Palotie A; Owen MJ; Barrett JC
Nat Neurosci; 2016 Apr; 19(4):571-7. PubMed ID: 26974950
[TBL] [Abstract][Full Text] [Related]
3. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Koemans TS; Kleefstra T; Chubak MC; Stone MH; Reijnders MRF; de Munnik S; Willemsen MH; Fenckova M; Stumpel CTRM; Bok LA; Sifuentes Saenz M; Byerly KA; Baughn LB; Stegmann APA; Pfundt R; Zhou H; van Bokhoven H; Schenck A; Kramer JM
PLoS Genet; 2017 Oct; 13(10):e1006864. PubMed ID: 29069077
[TBL] [Abstract][Full Text] [Related]
4. SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders.
Wang S; Bleeck A; Nadif Kasri N; Kleefstra T; van Rhijn JR; Schubert D
Front Mol Neurosci; 2021; 14():772000. PubMed ID: 34803610
[TBL] [Abstract][Full Text] [Related]
5. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Nixon KCJ; Rousseau J; Stone MH; Sarikahya M; Ehresmann S; Mizuno S; Matsumoto N; Miyake N; ; Baralle D; McKee S; Izumi K; Ritter AL; Heide S; Héron D; Depienne C; Titheradge H; Kramer JM; Campeau PM
Am J Hum Genet; 2019 Apr; 104(4):596-610. PubMed ID: 30879640
[TBL] [Abstract][Full Text] [Related]
6. Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.
Wang S; Rhijn JV; Akkouh I; Kogo N; Maas N; Bleeck A; Ortiz IS; Lewerissa E; Wu KM; Schoenmaker C; Djurovic S; van Bokhoven H; Kleefstra T; Nadif Kasri N; Schubert D
Cell Rep; 2022 May; 39(5):110790. PubMed ID: 35508131
[TBL] [Abstract][Full Text] [Related]
7. Setd1a Insufficiency in Mice Attenuates Excitatory Synaptic Function and Recapitulates Schizophrenia-Related Behavioral Abnormalities.
Nagahama K; Sakoori K; Watanabe T; Kishi Y; Kawaji K; Koebis M; Nakao K; Gotoh Y; Aiba A; Uesaka N; Kano M
Cell Rep; 2020 Sep; 32(11):108126. PubMed ID: 32937141
[TBL] [Abstract][Full Text] [Related]
8. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L; Verseput J; Rots D; Venselaar H; Innes AM; Stumpel C; Õunap K; Reinson K; Seaby EG; McKee S; Burton B; Kim K; van Hagen JM; Waisfisz Q; Joset P; Steindl K; Rauch A; Li D; Zackai EH; Sheppard SE; Keena B; Hakonarson H; Roos A; Kohlschmidt N; Cereda A; Iascone M; Rebessi E; Kernohan KD; Campeau PM; Millan F; Taylor JA; Lochmüller H; Higgs MR; Goula A; Bernhard B; Velasco DJ; Schmanski AA; Stark Z; Gallacher L; Pais L; Marcogliese PC; Yamamoto S; Raun N; Jakub TE; Kramer JM; den Hoed J; Fisher SE; Brunner HG; Kleefstra T
HGG Adv; 2023 Jan; 4(1):100157. PubMed ID: 36408368
[TBL] [Abstract][Full Text] [Related]
9. De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.
Yu X; Yang L; Li J; Li W; Li D; Wang R; Wu K; Chen W; Zhang Y; Qiu Z; Zhou W
Neurosci Bull; 2019 Dec; 35(6):1045-1057. PubMed ID: 31197650
[TBL] [Abstract][Full Text] [Related]
10. The H3K4 methyltransferase Setd1a is first required at the epiblast stage, whereas Setd1b becomes essential after gastrulation.
Bledau AS; Schmidt K; Neumann K; Hill U; Ciotta G; Gupta A; Torres DC; Fu J; Kranz A; Stewart AF; Anastassiadis K
Development; 2014 Mar; 141(5):1022-35. PubMed ID: 24550110
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R; Radmanesh A; Glass IA; Dobyns WB; Aldinger KA; Shieh JT; Romoser S; Bombei H; Dowsett L; Trapane P; Bernat JA; Baker J; Mendelsohn NJ; Popp B; Siekmeyer M; Sorge I; Sansbury FH; Watts P; Foulds NC; Burton J; Hoganson G; Hurst JA; Menzies L; Osio D; Kerecuk L; Cobben JM; Jizi K; Jacquemont S; Bélanger SA; Löhner K; Veenstra-Knol HE; Lemmink HH; Keller-Ramey J; Wentzensen IM; Punj S; McWalter K; Lenberg J; Ellsworth KA; Radtke K; Akbarian S; Pappas J
Am J Med Genet A; 2020 Sep; 182(9):2037-2048. PubMed ID: 32710489
[TBL] [Abstract][Full Text] [Related]
12. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
[TBL] [Abstract][Full Text] [Related]
13. SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.
Colijn MA; Carrion P; Poirier-Morency G; Rogic S; Torres I; Menon M; Lisonek M; Cook C; DeGraaf A; Thammaiah SP; Neelakant H; Willaeys V; Leonova O; White RF; Yip S; Mungall AJ; MacLeod PM; Gibson WT; Sullivan PF; Honer WG; Pavlidis P; Stowe RM
Prog Neuropsychopharmacol Biol Psychiatry; 2024 Feb; 129():110888. PubMed ID: 37918557
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X; Tao AM; Lu S; Ma M; Hannan SB; Slaugh R; Drewes Williams S; O'Grady L; Kanca O; Person R; Carter MT; Platzer K; Schnabel F; Abou Jamra R; Roberts AE; Newburger JW; Revah-Politi A; Granadillo JL; Stegmann APA; Sinnema M; Accogli A; Salpietro V; Capra V; Ghaloul-Gonzalez L; Brueckner M; Simon MEH; Sweetser DA; Glinton KE; Kirk SE; ; Wangler MF; Yamamoto S; Chung WK; Bellen HJ
Am J Hum Genet; 2024 Apr; 111(4):742-760. PubMed ID: 38479391
[TBL] [Abstract][Full Text] [Related]
16. Elevated placental histone H3K4 methylation via upregulated histone methyltransferases SETD1A and SMYD3 in preeclampsia and its possible involvement in hypoxia-induced pathophysiological process.
Matsui H; Iriyama T; Sayama S; Inaoka N; Suzuki K; Yoshikawa M; Ichinose M; Sone K; Kumasawa K; Nagamatsu T; Fujisawa T; Naguro I; Ichijo H; Fujii T; Osuga Y
Placenta; 2021 Nov; 115():60-69. PubMed ID: 34560329
[TBL] [Abstract][Full Text] [Related]
17. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C
Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556
[TBL] [Abstract][Full Text] [Related]
18. Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function.
Clifton NE; Bosworth ML; Haan N; Rees E; Holmans PA; Wilkinson LS; Isles AR; Collins MO; Hall J
Hum Mol Genet; 2022 Sep; 31(18):3095-3106. PubMed ID: 35531971
[TBL] [Abstract][Full Text] [Related]
19. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z; Deshwar AR; Huang Y; Barish S; Zhang X; Choufani S; Le Quesne Stabej P; Hayes I; Yap P; Haldeman-Englert C; Wilson C; Prescott T; Tveten K; Vøllo A; Haynes D; Wheeler PG; Zon J; Cytrynbaum C; Jobling R; Blyth M; Banka S; Afenjar A; Mignot C; Robin-Renaldo F; Keren B; Kanca O; Mao X; Wegner DJ; Sisco K; Shinawi M; ; Wangler MF; Weksberg R; Yamamoto S; Costain G; Bellen HJ
Am J Hum Genet; 2023 Nov; 110(11):1919-1937. PubMed ID: 37827158
[TBL] [Abstract][Full Text] [Related]
20. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR; Jacobs EZ; Vantomme L; Leblanc P; Bogaert E; Dheedene A; De Cock L; Haghshenas S; Foroutan A; Levy MA; Kerkhof J; McConkey H; Chen CA; Batzir NA; Wang X; Palomares M; Carels M; ; Dermaut B; Sadikovic B; Menten B; Yuan B; Vergult S; Callewaert B
Am J Hum Genet; 2024 Mar; 111(3):509-528. PubMed ID: 38412861
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
