PMC Links for Gene (Select 92949) - PMC

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Items: 20

Select item 56963391.

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

Latha Kadalayil, Sofia Khan, Heli Nevanlinna, Peter A. Fasching, Fergus J. Couch, John L. Hopper, Jianjun Liu, Tom Maishman, Lorraine Durcan, Sue Gerty, Carl Blomqvist, Brigitte Rack, Wolfgang Janni, Andrew Collins, Diana Eccles, William Tapper

Nat Commun. 2017; 8: 1632. Published online 2017 Nov 21. doi: 10.1038/s41467-017-01775-y

PMCID:: PMC5696339

Abstract Article PDF–1.1M

Select item 56387042.

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial and other systemic features in a three generation human pedigree

Kathryn Hendee, Lauren Weiping Wang, Linda M. Reis, Gregory M. Rice, Suneel S. Apte, Elena V. Semina

Hum Mutat. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Hum Mutat. 2017 Nov; 38(11): 1485–1490. Published online 2017 Aug 1. doi: 10.1002/humu.23299

PMCID:: PMC5638704

Abstract Article PDF–470K

Select item 27815543.

Post-translational Modification of Thrombospondin Type-1 Repeats in ADAMTS-like 1/Punctin-1 by C-Mannosylation of Tryptophan

Lauren W. Wang, Christina Leonhard-Melief, Robert S. Haltiwanger, Suneel S. Apte

J Biol Chem. 2009 Oct 30; 284(44): 30004–30015. Published online 2009 Aug 11. doi: 10.1074/jbc.M109.038059

PMCID:: PMC2781554

Abstract Article PDF–3.7M

Select item 47950454.

Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene

Abanish Singh, Michael A Babyak, Daniel K Nolan, Beverly H Brummett, Rong Jiang, Ilene C Siegler, William E Kraus, Svati H Shah, Redford B Williams, Elizabeth R Hauser

Eur J Hum Genet. 2015 Jun; 23(6): 854–862. Published online 2014 Oct 1. doi: 10.1038/ejhg.2014.189

PMCID:: PMC4795045

Abstract Article PDF–1.6M

Select item 37664185.

Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval

Christy L. Avery, Colleen M. Sitlani, Dan E. Arking, Donna K. Arnett, Joshua C. Bis, Eric Boerwinkle, Brendan M. Buckley, Y.-D. Ida Chen, Anton JM de Craen, Mark Eijgelsheim, Daniel Enquobahrie, Daniel S. Evans, Ian Ford, Melissa E. Garcia, Vilmundur Gudnason, Tamara B. Harris, Susan R. Heckbert, Hagit Hochner, Albert Hofman, Wen-Chi Hsueh, Aaron Isaacs, J. Wouter Jukema, Paul Knekt, Jan A. Kors, Bouwe P. Krijthe, Kati Kristiansson, Maarit Laaksonen, Yongmei Liu, Xiaohui Li, Peter W. MacFarlane, Christopher Newton-Cheh, Markku S. Nieminen, Ben A. Oostra, Gina M. Peloso, Kimmo Porthan, Kenneth Rice, Fernando F. Rivadeneira, Jerome I. Rotter, Veikko Salomaa, Naveed Sattar, David S. Siscovick, P. Eline Slagboom, Albert V. Smith, Nona Sotoodehnia, David J. Stott, Bruno H. Stricker, Til Stürmer, Stella Trompet, Andre G. Uitterlinden, Cornelia M. van Duijn, Rudi GJ Westendorp, Jacqueline C. Witteman, Eric A. Whitsel, Bruce M. Psaty

Pharmacogenomics J. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Pharmacogenomics J. 2014 Feb; 14(1): 6–13. Published online 2013 Mar 5. doi: 10.1038/tpj.2013.4

PMCID:: PMC3766418

Abstract Article PDF–695K

Select item 32109106.

Genes Linked to Energy Metabolism and Immunoregulatory Mechanisms are Associated with Subcutaneous Adipose Tissue Distribution in HIV-infected Men

Marguerite R Irvin, Sadeep Shrestha, Yii-Der I. Chen, Howard W. Wiener, Talin Haritunians, Laura K. Vaughan, Hemant K. Tiwari, Kent D Taylor, Rebecca Scherzer, Michael S. Saag, Carl Grunfeld, Jerome I. Rotter, Donna K. Arnett

Pharmacogenet Genomics. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Pharmacogenet Genomics. 2011 Dec; 21(12): 798–807. doi: 10.1097/FPC.0b013e32834b68f9

PMCID:: PMC3210910

Abstract Article PDF–1.1M

Select item 109424677.

Mitochondrial Raf1 Regulates Glutamine Catabolism

Ronald L. Shanderson, Ian D. Ferguson, Zurab Siprashvili, Luca Ducoli, Albert M. Li, Weili Miao, Suhas Srinivasan, Mary Grace Velasco, Yang Li, Jiangbin Ye, Paul A. Khavari

Version 1. bioRxiv. Preprint. 2024 Mar 9. doi: 10.1101/2024.03.08.581297

PMCID:: PMC10942467

Abstract Article PDF–6.5M

Select item 27340818.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Abstract Article PDF–1006K

Select item 35225879.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 40369710.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Abstract Article PDF–120K

Select item 910523511.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 294516812.

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 277583213.

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 289646414.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 135612915.

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 553161116.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503017.

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 52892818.

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 13924119.

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

Select item 317805920.

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

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PMC Links for Gene (Select 92949) (20)
PMC
Homo sapiens taxilin gamma Y-linked (pseudogene) (TXLNGY), transcript variant 2,...
Homo sapiens taxilin gamma Y-linked (pseudogene) (TXLNGY), transcript variant 2, non-coding RNA
gi|346644735|ref|NR_045129.1|

Nucleotide
Homo sapiens chromodomain Y-linked 1 (CDY1), transcript variant 2, mRNA
Homo sapiens chromodomain Y-linked 1 (CDY1), transcript variant 2, mRNA
gi|1890343267|ref|NM_004680.3|

Nucleotide
ADAMTS-like protein 1 isoform X12 [Homo sapiens]
ADAMTS-like protein 1 isoform X12 [Homo sapiens]
gi|2217382151|ref|XP_047280034.1|

Protein
ADAMTS-like protein 1 isoform X7 [Homo sapiens]
ADAMTS-like protein 1 isoform X7 [Homo sapiens]
gi|2462627201|ref|XP_054220145.1|

Protein

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