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Links from Nucleotide

Items: 5

1.
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
Monica Frega, Katrin Linda, Jason M. Keller, Güvem Gümüş-Akay, Britt Mossink, Jon-Ruben van Rhijn, Moritz Negwer, Teun Klein Gunnewiek, Katharina Foreman, Nine Kompier, Chantal Schoenmaker, Willem van den Akker, Ilse van der Werf, Astrid Oudakker, Huiqing Zhou, Tjitske Kleefstra, Dirk Schubert, Hans van Bokhoven, Nael Nadif Kasri
Nat Commun. 2019; 10: 4928. Published online 2019 Oct 30. doi: 10.1038/s41467-019-12947-3
PMCID:
PMC6821803
AbstractArticlePDF–3.1M
2.
Pulmonary Hypertension in Patients with 9q34.3 microdeletion-associated Kleefstra Syndrome
Volkan Okur, Shannon Nees, Wendy K. Chung, Usha Krishnan
Am J Med Genet A. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Am J Med Genet A. 2018 Aug; 176(8): 1773–1777. Published online 2018 Jul 31. doi: 10.1002/ajmg.a.38852
PMCID:
PMC6107394
AbstractArticlePDF–59K
3.
Methylation of hypoxia-inducible factor (HIF)-1α by G9a/GLP inhibits HIF-1 transcriptional activity and cell migration
Lei Bao, Yan Chen, Hsien-Tsung Lai, Shwu-Yuan Wu, Jennifer E Wang, Kimmo J Hatanpaa, Jack M Raisanen, Miles Fontenot, Bradley Lega, Cheng-Ming Chiang, Gregg L Semenza, Yingfei Wang, Weibo Luo
Nucleic Acids Res. 2018 Jul 27; 46(13): 6576–6591. Published online 2018 May 31. doi: 10.1093/nar/gky449
PMCID:
PMC6061882
AbstractArticlePDF–11M
4.
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
T Kleefstra, M Smidt, M Banning, A Oudakker, H Van Esch, A P M de Brouwer, W Nillesen, E Sistermans, B Hamel, D de Bruijn, J Fryns, H Yntema, H Brunner, B B A de Vries, H van Bokhoven
J Med Genet. 2005 Apr; 42(4): 299–306. doi: 10.1136/jmg.2004.028464
PMCID:
PMC1736026
SummaryPDF–374K
5.
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns, Ben C. J. Hamel, Erik A. Sistermans, Bert B. A. de Vries, Hans van Bokhoven
Am J Hum Genet. 2006 Aug; 79(2): 370–377. Published online 2006 Jun 13. doi: 10.1086/505693
PMCID:
PMC1559478
AbstractArticlePDF–1.9M

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