PMC Links for GEO Profiles (Select 128077692) - PMC

Select item 66886211.

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects

Maaz Hassan, Merlin G. Butler

Eur J Med Genet. Author manuscript; available in PMC 2019 Aug 9.

Published in final edited form as: Eur J Med Genet. 2016 Nov; 59(11): 584–589. Published online 2016 Sep 19. doi: 10.1016/j.ejmg.2016.09.017

PMCID:: PMC6688621

Abstract Article PDF–499K

Select item 60578712.

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

Yongming Sun, Robert D. Nicholls, Merlin G. Butler, Shinji Saitoh, Bryan E. Hainline, Catherine G. Palmer

Hum Mol Genet. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Hum Mol Genet. 1996 Apr; 5(4): 517–524. doi: 10.1093/hmg/5.4.517

PMCID:: PMC6057871

Abstract Article PDF–818K

Select item 59921043.

Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins

James E. Tomkins, Sybille Dihanich, Alexandra Beilina, Raffaele Ferrari, Nicolò Ilacqua, Mark R. Cookson, Patrick A. Lewis, Claudia Manzoni

Proteomics. 2018 May; 18(10): 1700444. Published online 2018 Apr 17. doi: 10.1002/pmic.201700444

PMCID:: PMC5992104

Abstract Article PDF–1.2M

Select item 47145614.

KAP1 Recruitment of the 7SK snRNP Complex to Promoters Enables Transcription Elongation by RNA Polymerase II

Ryan P. McNamara, Jonathan E. Reeder, Elizabeth A. McMillan, Curtis W. Bacon, Jennifer L. McCann, Iván D’Orso

Mol Cell. Author manuscript; available in PMC 2017 Jan 7.

Published in final edited form as: Mol Cell. 2016 Jan 7; 61(1): 39–53. Published online 2015 Dec 24. doi: 10.1016/j.molcel.2015.11.004

PMCID:: PMC4714561

Abstract Article PDF–2.2M

Select item 46479415.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 33679706.

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

Benedetta Izzi, Inge Francois, Veerle Labarque, Chantal Thys, Christine Wittevrongel, Koen Devriendt, Eric Legius, Annick Van den Bruel, Marc D'Hooghe, Diether Lambrechts, Francis de Zegher, Chris Van Geet, Kathleen Freson

PLoS One. 2012; 7(6): e38579. Published online 2012 Jun 5. doi: 10.1371/journal.pone.0038579

PMCID:: PMC3367970

Abstract Article PDF–580K

Select item 33262827.

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain

S. Naik, N.S. Thomas, J.H. Davies, M. Lever, M. Raponi, D. Baralle, I.K. Temple, A. Caliebe

Mol Syndromol. 2012 Jan; 2(2): 76–80. Published online 2012 Jan 4. doi: 10.1159/000335220

PMCID:: PMC3326282

Abstract Article PDF–444K

Select item 31908268.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Abstract Article PDF–5.7M

Select item 31780599.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 316943210.

Protein interactome reveals converging molecular pathways among autism disorders

Yasunari Sakai, Chad A. Shaw, Brian C. Dawson, Diana V. Dugas, Zaina Al-Mohtaseb, David E. Hill, Huda Y. Zoghbi

Sci Transl Med. Author manuscript; available in PMC 2011 Dec 8.

Published in final edited form as: Sci Transl Med. 2011 Jun 8; 3(86): 86ra49. doi: 10.1126/scitranslmed.3002166

PMCID:: PMC3169432

Abstract Article PDF–6.0M

Select item 302349411.

RioK1, a New Interactor of Protein Arginine Methyltransferase 5 (PRMT5), Competes with pICln for Binding and Modulates PRMT5 Complex Composition and Substrate Specificity

Gernot Guderian, Christoph Peter, Julia Wiesner, Albert Sickmann, Klaus Schulze-Osthoff, Utz Fischer, Matthias Grimmler

J Biol Chem. 2011 Jan 21; 286(3): 1976–1986. Published online 2010 Nov 16. doi: 10.1074/jbc.M110.148486

PMCID:: PMC3023494

Abstract Article PDF–4.1M

Select item 298669012.

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

Michaela Wawrzik, Andrej-Nikolai Spiess, Ralf Herrmann, Karin Buiting, Bernhard Horsthemke

Eur J Hum Genet. 2009 Nov; 17(11): 1463–1470. Published online 2009 May 27. doi: 10.1038/ejhg.2009.83

PMCID:: PMC2986690

Abstract Article PDF–519K

Select item 191453613.

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

C. C. Glenn, S. Saitoh, M. T. Jong, M. M. Filbrandt, U. Surti, D. J. Driscoll, R. D. Nicholls

Am J Hum Genet. 1996 Feb; 58(2): 335–346.

PMCID:: PMC1914536

Summary Page Browse PDF–2.7M

Select item 135612914.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406