PMC Links for GEO Profiles (Select 60844941) - PMC

Select item 103372821.

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene

Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng

Mol Genet Genomic Med. 2023 Jul; 11(7): e2162. Published online 2023 Mar 10. doi: 10.1002/mgg3.2162

PMCID:: PMC10337282

Select item 102374222.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 81650303.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 48581514.

Phosphorylation of Human Choline Kinase Beta by Protein Kinase A: Its Impact on Activity and Inhibition

Ching Ching Chang, Ling Ling Few, Manfred Konrad, Wei Cun See Too

PLoS One. 2016; 11(5): e0154702. Published online 2016 May 5. doi: 10.1371/journal.pone.0154702

PMCID:: PMC4858151

Abstract Article PDF–1.2M

Select item 48307015.

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

Uluç Yis, Figen Baydan, Mert Karakaya, Semra Hız Kurul, Sebahattin Cirak

Biomed Res Int. 2016; 2016: 3128735. Published online 2016 Mar 31. doi: 10.1155/2016/3128735

PMCID:: PMC4830701

Abstract Article PDF–1.5M

Select item 39765976.

Identification of the Variations in the CPT1B and CHKB Genes Along with the HLA-DQB1*06:02 Allele in Turkish Narcolepsy Patients and Healthy Persons

Sultan Cingoz, Sinem Agilkaya, Ibrahim Oztura, Secil Eroglu, Derya Karadeniz, Ahmet Evlice, Oguz Altungoz, Hikmet Yilmaz, Baris Baklan

Genet Test Mol Biomarkers. 2014 Apr 1; 18(4): 261–268. doi: 10.1089/gtmb.2013.0391

PMCID:: PMC3976597

Abstract Article PDF–382K

Select item 32882797.

TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy

Fang Han, Ling Lin, Jing Li, Adi Aran, Song X. Dong, Pei. An, Long Zhao, Qian Y. Li, Han Yan, Jie S. Wang, Hui Y. Gao, Mei Li, Zhan C. Gao, Kingman P. Strohl, Emmanuel Mignot

Sleep Med. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Sleep Med. 2012 Mar; 13(3): 269–272. Published online 2011 Dec 15. doi: 10.1016/j.sleep.2011.06.020

PMCID:: PMC3288279

Abstract Article PDF–320K

Select item 31780598.

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 31133449.

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Satomi Mitsuhashi, Aya Ohkuma, Beril Talim, Minako Karahashi, Tomoko Koumura, Chieko Aoyama, Mana Kurihara, Ros Quinlivan, Caroline Sewry, Hiroaki Mitsuhashi, Kanako Goto, Burcu Koksal, Gulsev Kale, Kazutaka Ikeda, Ryo Taguchi, Satoru Noguchi, Yukiko K. Hayashi, Ikuya Nonaka, Roger B. Sher, Hiroyuki Sugimoto, Yasuhito Nakagawa, Gregory A. Cox, Haluk Topaloglu, Ichizo Nishino

Am J Hum Genet. 2011 Jun 10; 88(6): 845–851. doi: 10.1016/j.ajhg.2011.05.010

PMCID:: PMC3113344

Abstract Article PDF–644K

Select item 294516810.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 293148811.

Distinct choline metabolic profiles are associated with differences in gene expression for basal-like and luminal-like breast cancer xenograft models

Siver A Moestue, Eldrid Borgan, Else M Huuse, Evita M Lindholm, Beathe Sitter, Anne-Lise Børresen-Dale, Olav Engebraaten, Gunhild M Mælandsmo, Ingrid S Gribbestad

BMC Cancer. 2010; 10: 433. Published online 2010 Aug 17. doi: 10.1186/1471-2407-10-433

PMCID:: PMC2931488

Abstract Article PDF–1.8M

Select item 292192012.

Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?

Gualberto Ruaño, Paul D Thompson, John P Kane, Clive R Pullinger, Andreas Windemuth, Richard L Seip, Mohan Kocherla, Theodore R Holford, Alan HB Wu

Pharmacogenomics. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Pharmacogenomics. 2010 Jul; 11(7): 959–971. doi: 10.2217/pgs.10.58

PMCID:: PMC2921920

Abstract Article PDF–1.4M

Select item 287150013.

Crystal Structures of Human Choline Kinase Isoforms in Complex with Hemicholinium-3: SINGLE AMINO ACID NEAR THE ACTIVE SITE INFLUENCES INHIBITOR SENSITIVITY

Bum Soo Hong, Abdellah Allali-Hassani, Wolfram Tempel, Patrick J. Finerty, Jr., Farrell MacKenzie, Svetoslav Dimov, Masoud Vedadi, Hee-Won Park

J Biol Chem. 2010 May 21; 285(21): 16330–16340. Published online 2010 Mar 18. doi: 10.1074/jbc.M109.039024

PMCID:: PMC2871500

Abstract Article PDF–3.3M

Select item 277583214.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 277300215.

Differential Role of Human Choline Kinase α and β Enzymes in Lipid Metabolism: Implications in Cancer Onset and Treatment

David Gallego-Ortega, Ana Ramirez de Molina, Maria Angeles Ramos, Fatima Valdes-Mora, Maria Gonzalez Barderas, Jacinto Sarmentero-Estrada, Juan Carlos Lacal

PLoS One. 2009; 4(11): e7819. Published online 2009 Nov 12. doi: 10.1371/journal.pone.0007819

PMCID:: PMC2773002

Abstract Article PDF–624K

Select item 267117216.

Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)

Taku Miyagawa, Makoto Honda, Minae Kawashima, Mihoko Shimada, Susumu Tanaka, Yutaka Honda, Katsushi Tokunaga

PLoS One. 2009; 4(4): e5394. Published online 2009 Apr 30. doi: 10.1371/journal.pone.0005394

PMCID:: PMC2671172

Abstract Article PDF–74K

Select item 135612917.

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

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 54560418.

A genome annotation-driven approach to cloning the human ORFeome

John E Collins, Charmain L Wright, Carol A Edwards, Matthew P Davis, James A Grinham, Charlotte G Cole, Melanie E Goward, Begoña Aguado, Meera Mallya, Younes Mokrab, Elizabeth J Huckle, David M Beare, Ian Dunham

Genome Biol. 2004; 5(10): R84. Published online 2004 Sep 30. doi: 10.1186/gb-2004-5-10-r84

PMCID:: PMC545604

Abstract Article PDF–762K

Select item 52892819.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924120.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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