PMC Links for Nucleotide (Select 1388035702) - PMC

Select item 54737201.

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma

Lynn M. Boyden, Nicholas G. Vincent, Jing Zhou, Ronghua Hu, Brittany G. Craiglow, Susan J. Bayliss, Ilana S. Rosman, Anne W. Lucky, Luis A. Diaz, Lowell A. Goldsmith, Amy S. Paller, Richard P. Lifton, Susan J. Baserga, Keith A. Choate

Am J Hum Genet. 2017 Jun 1; 100(6): 978–984. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.003

PMCID:: PMC5473720

Abstract Article PDF–1.5M

Select item 29757252.

Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease

Gina M. Peloso, Serkalem Demissie, Dorothea Collins, Daniel B. Mirel, Stacey B. Gabriel, L. Adrienne Cupples, Sander J. Robins, Ernst J. Schaefer, Margaret E. Brousseau

J Lipid Res. 2010 Dec; 51(12): 3524–3532. doi: 10.1194/jlr.P008268

PMCID:: PMC2975725

Abstract Article PDF–667K

Select item 29282243.

Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity

HD Hosgood, III, L Zhang, M Shen, SI Berndt, R Vermeulen, G Li, S Yin, M Yeager, J Yuenger, N Rothman, S Chanock, M Smith, Q Lan

Occup Environ Med. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Occup Environ Med. 2009 Dec; 66(12): 848–853. Published online 2009 Sep 22. doi: 10.1136/oem.2008.044024

PMCID:: PMC2928224

Abstract Article PDF–321K

Select item 28967444.

The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative

Bengt Persson, James E. Bray, Elspeth Bruford, Stephen L. Dellaporta, Angelo D. Favia, Roser Gonzalez Duarte, Hans Jörnvall, Yvonne Kallberg, Kathryn L. Kavanagh, Natalia Kedishvili, Michael Kisiela, Edmund Maser, Rebekka Mindnich, Sandra Orchard, Trevor M. Penning, Janet M. Thornton, Jerzy Adamski, Udo Oppermann

Chem Biol Interact. Author manuscript; available in PMC 2010 Jul 5.

Published in final edited form as: Chem Biol Interact. 2009 Mar 16; 178(1-3): 94–98. Published online 2008 Nov 5. doi: 10.1016/j.cbi.2008.10.040

PMCID:: PMC2896744

Abstract Article PDF–57K

Select item 68524725.

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

Karyn Megy, Kate Downes, Ilenia Simeoni, Loredana Bury, Joannella Morales, Rutendo Mapeta, Daniel B. Bellissimo, Paul F. Bray, Anne C. Goodeve, Paolo Gresele, Michele Lambert, Pieter Reitsma, Willem H. Ouwehand, Kathleen Freson, the Subcommittee on Genomics in Thrombosis and Hemostasis

J Thromb Haemost. 2019 Aug; 17(8): 1253–1260. Published online 2019 Jun 9. doi: 10.1111/jth.14479

PMCID:: PMC6852472

Article PDF–550K

Select item 65188796.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

Tadbir K. Bariana, Veerle Labarque, Jessica Heremans, Chantal Thys, Mara De Reys, Daniel Greene, Benjamin Jenkins, Luigi Grassi, Denis Seyres, Frances Burden, Deborah Whitehorn, Olga Shamardina, Sofia Papadia, Keith Gomez, NIHR BioResource, Chris Van Geet, Albert Koulman, Willem H. Ouwehand, Cedric Ghevaert, Mattia Frontini, Ernest Turro, Kathleen Freson

Haematologica. 2019 May; 104(5): 1036–1045. Prepublished online 2018 Nov 22. doi: 10.3324/haematol.2018.204784

PMCID:: PMC6518879

Abstract Article PDF–1.8M

Select item 62916877.

Gene expression profiling: identification of gene expression in human MSC chondrogenic differentiation

Ming Gong, Tangzhao Liang, Hao Zhang, Shaochu Chen, Yawei Hu, Jianhua Zhou, Xuan Zhang, Wang Zhang, Xiaojing Geng, Xuenong Zou

Am J Transl Res. 2018; 10(11): 3555–3566. Published online 2018 Nov 15.

PMCID:: PMC6291687

Abstract Article PDF–1.5M

Select item 54602148.

Opposing activities of oncogenic MIR17HG and tumor suppressive MIR100HG clusters and their gene targets regulate replicative senescence in human adult stem cells

Mary F. Lopez, Ping Niu, Lu Wang, Maryann Vogelsang, Meenakshi Gaur, Bryan Krastins, Yueqiang Zhao, Aibek Smagul, Aliya Nussupbekova, Aikan A. Akanov, I. King Jordan, Victoria V. Lunyak

NPJ Aging Mech Dis. 2017; 3: 7. Published online 2017 Apr 20. doi: 10.1038/s41514-017-0006-y

PMCID:: PMC5460214

Abstract Article PDF–2.9M

Select item 43031169.

miR-638 mediated regulation of BRCA1affects DNA repair and sensitivity to UV and cisplatin in triple-negative breast cancer

Xiaohui Tan, Jin Peng, Yebo Fu, Shejuan An, Katayoon Rezaei, Sana Tabbara, Christine B Teal, Yan-gao Man, Rachel F Brem, Sidney W Fu

Breast Cancer Res. 2014; 16: 435. Published online 2014 Sep 17. doi: 10.1186/s13058-014-0435-5

PMCID:: PMC4303116

Abstract Article PDF–1.8M

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