779 related articles for article (PubMed ID: 29069077)
1. 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]
2. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL
Blackburn PR; Tischer A; Zimmermann MT; Kemppainen JL; Sastry S; Knight Johnson AE; Cousin MA; Boczek NJ; Oliver G; Misra VK; Gavrilova RH; Lomberk G; Auton M; Urrutia R; Klee EW
J Biol Chem; 2017 Mar; 292(9):3866-3876. PubMed ID: 28057753
[TBL] [Abstract][Full Text] [Related]
3. Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.
Bock I; Németh K; Pentelényi K; Balicza P; Balázs A; Molnár MJ; Román V; Nagy J; Lévay G; Kobolák J; Dinnyés A
Gene; 2016 Dec; 595(2):131-141. PubMed ID: 27651234
[TBL] [Abstract][Full Text] [Related]
4. Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism.
Nagy J; Kobolák J; Berzsenyi S; Ábrahám Z; Avci HX; Bock I; Bekes Z; Hodoscsek B; Chandrasekaran A; Téglási A; Dezső P; Koványi B; Vörös ET; Fodor L; Szél T; Németh K; Balázs A; Dinnyés A; Lendvai B; Lévay G; Román V
Transl Psychiatry; 2017 Jul; 7(7):e1179. PubMed ID: 28742076
[TBL] [Abstract][Full Text] [Related]
5. Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.
Balemans MC; Kasri NN; Kopanitsa MV; Afinowi NO; Ramakers G; Peters TA; Beynon AJ; Janssen SM; van Summeren RC; Eeftens JM; Eikelenboom N; Benevento M; Tachibana M; Shinkai Y; Kleefstra T; van Bokhoven H; Van der Zee CE
Hum Mol Genet; 2013 Mar; 22(5):852-66. PubMed ID: 23175442
[TBL] [Abstract][Full Text] [Related]
6. Euchromatin histone methyltransferase 1 regulates cortical neuronal network development.
Martens MB; Frega M; Classen J; Epping L; Bijvank E; Benevento M; van Bokhoven H; Tiesinga P; Schubert D; Nadif Kasri N
Sci Rep; 2016 Oct; 6():35756. PubMed ID: 27767173
[TBL] [Abstract][Full Text] [Related]
7. Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.
Benevento M; Oomen CA; Horner AE; Amiri H; Jacobs T; Pauwels C; Frega M; Kleefstra T; Kopanitsa MV; Grant SG; Bussey TJ; Saksida LM; Van der Zee CE; van Bokhoven H; Glennon JC; Kasri NN
Sci Rep; 2017 Jan; 7():40284. PubMed ID: 28071689
[TBL] [Abstract][Full Text] [Related]
8. Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.
Frega M; Selten M; Mossink B; Keller JM; Linda K; Moerschen R; Qu J; Koerner P; Jansen S; Oudakker A; Kleefstra T; van Bokhoven H; Zhou H; Schubert D; Nadif Kasri N
Cell Rep; 2020 Jan; 30(1):173-186.e6. PubMed ID: 31914384
[TBL] [Abstract][Full Text] [Related]
9. KMT2C/D COMPASS complex-associated diseases [K
Lavery WJ; Barski A; Wiley S; Schorry EK; Lindsley AW
Clin Epigenetics; 2020 Jan; 12(1):10. PubMed ID: 31924266
[TBL] [Abstract][Full Text] [Related]
10. A structured assessment of motor function and behavior in patients with Kleefstra syndrome.
Schmidt S; Nag HE; Hunn BS; Houge G; Hoxmark LB
Eur J Med Genet; 2016 Apr; 59(4):240-8. PubMed ID: 26808425
[TBL] [Abstract][Full Text] [Related]
11. Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.
Yamada A; Shimura C; Shinkai Y
J Hum Genet; 2018 May; 63(5):555-562. PubMed ID: 29459631
[TBL] [Abstract][Full Text] [Related]
12. Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
Marchese G; Rizzo F; Guacci A; Weisz A; Coppola G
Neurol Sci; 2016 May; 37(5):829-31. PubMed ID: 26792009
[No Abstract] [Full Text] [Related]
13. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.
Balemans MC; Ansar M; Oudakker AR; van Caam AP; Bakker B; Vitters EL; van der Kraan PM; de Bruijn DR; Janssen SM; Kuipers AJ; Huibers MM; Maliepaard EM; Walboomers XF; Benevento M; Nadif Kasri N; Kleefstra T; Zhou H; Van der Zee CE; van Bokhoven H
Dev Biol; 2014 Feb; 386(2):395-407. PubMed ID: 24362066
[TBL] [Abstract][Full Text] [Related]
14. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.
Okur V; Nees S; Chung WK; Krishnan U
Am J Med Genet A; 2018 Aug; 176(8):1773-1777. PubMed ID: 30063093
[TBL] [Abstract][Full Text] [Related]
15. Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
Huang Q; Xiong H; Tao Z; Yue F; Xiao N
Eur J Med Genet; 2021 Sep; 64(9):104289. PubMed ID: 34265435
[TBL] [Abstract][Full Text] [Related]
16. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Campbell CL; Collins RT; Zarate YA
Birth Defects Res A Clin Mol Teratol; 2014 Dec; 100(12):985-90. PubMed ID: 25380126
[TBL] [Abstract][Full Text] [Related]
17. Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Frega M; Linda K; Keller JM; Gümüş-Akay G; Mossink B; van Rhijn JR; Negwer M; Klein Gunnewiek T; Foreman K; Kompier N; Schoenmaker C; van den Akker W; van der Werf I; Oudakker A; Zhou H; Kleefstra T; Schubert D; van Bokhoven H; Nadif Kasri N
Nat Commun; 2019 Oct; 10(1):4928. PubMed ID: 31666522
[TBL] [Abstract][Full Text] [Related]
18. The Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome.
Schut EHS; Alonso A; Smits S; Khamassi M; Samanta A; Negwer M; Kasri NN; Navarro Lobato I; Genzel L
Neurobiol Learn Mem; 2020 Sep; 173():107265. PubMed ID: 32531423
[TBL] [Abstract][Full Text] [Related]
19. Molecular convergence of neurodevelopmental disorders.
Chen ES; Gigek CO; Rosenfeld JA; Diallo AB; Maussion G; Chen GG; Vaillancourt K; Lopez JP; Crapper L; Poujol R; Shaffer LG; Bourque G; Ernst C
Am J Hum Genet; 2014 Nov; 95(5):490-508. PubMed ID: 25307298
[TBL] [Abstract][Full Text] [Related]
20. Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling.
Benevento M; Iacono G; Selten M; Ba W; Oudakker A; Frega M; Keller J; Mancini R; Lewerissa E; Kleefstra T; Stunnenberg HG; Zhou H; van Bokhoven H; Nadif Kasri N
Neuron; 2016 Jul; 91(2):341-55. PubMed ID: 27373831
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
