PMC Links for Nucleotide (Select 1519314291) - PMC

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Items: 11

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 43672692.

Probing the Acceptor Active Site Organization of the Human Recombinant β1,4-Galactosyltransferase 7 and Design of Xyloside-based Inhibitors

Mineem Saliba, Nick Ramalanjaona, Sandrine Gulberti, Isabelle Bertin-Jung, Aline Thomas, Samir Dahbi, Chrystel Lopin-Bon, Jean-Claude Jacquinet, Christelle Breton, Mohamed Ouzzine, Sylvie Fournel-Gigleux

J Biol Chem. 2015 Mar 20; 290(12): 7658–7670. Published online 2015 Jan 8. doi: 10.1074/jbc.M114.628123

PMCID:: PMC4367269

Abstract Article PDF–1.8M

Select item 42667443.

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

François Cartault, Patrick Munier, Marie-Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray, Christine Payet, Hanitra Randrianaivo, Jean-Marc Laville, Arnold Munnich, Valérie Cormier-Daire

Eur J Hum Genet. 2015 Jan; 23(1): 49–53. Published online 2014 Apr 23. doi: 10.1038/ejhg.2014.60

PMCID:: PMC4266744

Abstract Article PDF–489K

Select item 38147924.

Crystal Structures of β-1,4-Galactosyltransferase 7 Enzyme Reveal Conformational Changes and Substrate Binding

Yuko Tsutsui, Boopathy Ramakrishnan, Pradman K. Qasba

J Biol Chem. 2013 Nov 1; 288(44): 31963–31970. Published online 2013 Sep 19. doi: 10.1074/jbc.M113.509984

PMCID:: PMC3814792

Abstract Article PDF–1.1M

Select item 16841935.

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.

H Kresse, S Rosthøj, E Quentin, J Hollmann, J Glössl, S Okada, T Tønnesen

Am J Hum Genet. 1987 Sep; 41(3): 436–453.

PMCID:: PMC1684193

Summary Page Browse PDF–2.4M

Select item 54602146.

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 50844067.

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

Peter A. Leegwater, Manon Vos-Loohuis, Bart J. Ducro, Iris J. Boegheim, Frank G. van Steenbeek, Isaac J. Nijman, Glen R. Monroe, John W. M. Bastiaansen, Bert W. Dibbits, Leanne H. van de Goor, Ids Hellinga, Willem Back, Anouk Schurink

BMC Genomics. 2016; 17: 839. Published online 2016 Oct 28. doi: 10.1186/s12864-016-3186-0

PMCID:: PMC5084406

Abstract Article PDF–1.1M

Select item 41220038.

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 36441179.

Identification and characterization of a Drosophila melanogaster ortholog of human β1,4-galactosyltransferase VII

Nadia Vadaie, Rebecca S. Hulinsky, Donald L. Jarvis

Glycobiology. Author manuscript; available in PMC 2013 May 4.

Published in final edited form as: Glycobiology. 2002 Oct; 12(10): 589–597. doi: 10.1093/glycob/cwf074

PMCID:: PMC3644117

Abstract Article PDF–2.5M

Select item 363084610.

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 298834011.

Identification of Key Functional Residues in the Active Site of Human β1,4-Galactosyltransferase 7: A MAJOR ENZYME IN THE GLYCOSAMINOGLYCAN SYNTHESIS PATHWAY

Ibtissam Talhaoui, Catherine Bui, Rafael Oriol, Guillermo Mulliert, Sandrine Gulberti, Patrick Netter, Michael W. H. Coughtrie, Mohamed Ouzzine, Sylvie Fournel-Gigleux

J Biol Chem. 2010 Nov 26; 285(48): 37342–37358. Published online 2010 Sep 15. doi: 10.1074/jbc.M110.151951