PMC Links for Nucleotide (Select 1435409582) - PMC

Select item 68265761.

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco, Cinzia Magnani, Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Livia Garavelli

Genes (Basel) 2019 Oct; 10(10): 799. Published online 2019 Oct 12. doi: 10.3390/genes10100799

PMCID:: PMC6826576

Abstract Article PDF–3.5M

Select item 36752582.

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Merhi-Soussi, Sandrine Gulberti, Sofie Symoens, Suzanne Vanhauwaert, Andy Willaert, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Nazanin Ebrahimiadib, Ingrid Hausser, Ann Huysseune, Sylvie Fournel-Gigleux, Anne De Paepe

Am J Hum Genet. 2013 Jun 6; 92(6): 935–945. doi: 10.1016/j.ajhg.2013.04.016

PMCID:: PMC3675258

Abstract Article PDF–1.3M

Select item 36752333.

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, Hironori Ito, Hiroshi Kitoh, Aya Hirayama, Hiroshi Mitsubuchi, Osamu Miyazaki, Rika Kosaki, Reiko Horikawa, Angeline Lai, Roberto Mendoza-Londono, Lucie Dupuis, David Chitayat, Andrew Howard, Gabriela F. Leal, Denise Cavalcanti, Yoshinori Tsurusaki, Hirotomo Saitsu, Shigehiko Watanabe, Ekkehart Lausch, Sheila Unger, Luisa Bonafé, Hirofumi Ohashi, Andrea Superti-Furga, Naomichi Matsumoto, Kazuyuki Sugahara, Gen Nishimura, Shiro Ikegawa

Am J Hum Genet. 2013 Jun 6; 92(6): 927–934. doi: 10.1016/j.ajhg.2013.04.003

PMCID:: PMC3675233

Abstract Article PDF–405K

Select item 29451684.

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 27758325.

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 151496.

A β-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to β-1,3-galactosyltransferases

Dapeng Zhou, André Dinter, Ricardo Gutiérrez Gallego, Johannis P. Kamerling, Johannes F. G. Vliegenthart, Eric G. Berger, Thierry Hennet

Proc Natl Acad Sci U S A. 1999 Jan 19; 96(2): 406–411. doi: 10.1073/pnas.96.2.406

Correction in:: Proc Natl Acad Sci U S A. 2000 Oct 10; 97(21): 11673.

PMCID:: PMC15149

Abstract Article PDF–195K

Select item 57254917.

Identification of ARNT-regulated BIRC3 as the target factor in cadmium renal toxicity

Jin-Yong Lee, Maki Tokumoto, Gi-Wook Hwang, Moo-Yeol Lee, Masahiko Satoh

Sci Rep. 2017; 7: 17287. Published online 2017 Dec 11. doi: 10.1038/s41598-017-17494-9

PMCID:: PMC5725491

Abstract Article PDF–4.9M

Select item 57012768.

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations

Pamela Trejo, Frank Rauch, Francis H. Glorieux, Jean Ouellet, Thierry Benaroch, Philippe M. Campeau

Mol Syndromol. 2017 Nov; 8(6): 303–307. Published online 2017 Sep 7. doi: 10.1159/000479672

PMCID:: PMC5701276

Abstract Article PDF–168K

Select item 55487329.

Prognostic value of a 25-gene assay in patients with gastric cancer after curative resection

Xiaohong Wang, Yiqiang Liu, Zhaojian Niu, Runjia Fu, Yongning Jia, Li Zhang, Duanfang Shao, Hong Du, Ying Hu, Xiaofang Xing, Xiaojing Cheng, Lin Li, Ting Guo, Ziyu Li, Qunsheng Ji, Lianhai Zhang, Jiafu Ji

Sci Rep. 2017; 7: 7515. Published online 2017 Aug 8. doi: 10.1038/s41598-017-07604-y

PMCID:: PMC5548732

Abstract Article PDF–2.9M

Select item 412200310.

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

Shuji Mizumoto, Shuhei Yamada, Kazuyuki Sugahara

Biomed Res Int. 2014; 2014: 495764. Published online 2014 Jul 13. doi: 10.1155/2014/495764

PMCID:: PMC4122003

Abstract Article PDF–1015K

Select item 363084611.

Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans

Shuji Mizumoto, Shiro Ikegawa, Kazuyuki Sugahara

J Biol Chem. 2013 Apr 19; 288(16): 10953–10961. Published online 2013 Mar 1. doi: 10.1074/jbc.R112.437038

PMCID:: PMC3630846

Abstract Article PDF–460K

Select item 297473712.

Identification of differentially expressed genes using an annealing control primer system in stage III serous ovarian carcinoma

Yun-Sook Kim, Jin Hwan Do, Sumi Bae, Dong-Han Bae, Woong Shick Ahn

BMC Cancer. 2010; 10: 576. Published online 2010 Oct 22. doi: 10.1186/1471-2407-10-576

PMCID:: PMC2974737

Abstract Article PDF–802K

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