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Select item 96016141.

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy

Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Jennifer Mohr, Matthias Vorgerd, Hoa Huu Phuc Nguyen, David Atlan, Beat Wolf, Ann-Kathrin Zaum, Simone Rost

Genes (Basel) 2022 Oct; 13(10): 1752. Published online 2022 Sep 28. doi: 10.3390/genes13101752

PMCID:: PMC9601614

Abstract Article PDF–4.7M

Select item 39773392.

Carrier Frequency of the c.525delT Mutation in the SGCG Gene and Estimated Prevalence of Limb Girdle Muscular Dystrophy Type 2C Among the Moroccan Population

Fatiha El Kerch, Ilham Ratbi, Aziza Sbiti, Fatima-Zohra Laarabi, Amina Barkat, Abdelaziz Sefiani

Genet Test Mol Biomarkers. 2014 Apr 1; 18(4): 253–256. doi: 10.1089/gtmb.2013.0326

PMCID:: PMC3977339

Abstract Article PDF–266K

Select item 34225553.

A Delta-Sarcoglycan Gene Polymorphism as a Risk Factor for Hypertrophic Cardiomyopathy

Rosa M. Ordoñez-Razo, Martín H. Garrido-Garduño, Ramón A. Pérez-Martínez, Victor M. Ruiz, Esteban Herrera-Tepatlán, Maricela Rodríguez-Cruz, Ana L. Jiménez-Vaca, Fernando Minauro-Sanmiguel, Fabio A. Salamanca-Gómez

Genet Test Mol Biomarkers. 2012 Aug; 16(8): 855–858. doi: 10.1089/gtmb.2011.0343

PMCID:: PMC3422555

Abstract Article PDF–108K

Select item 28610254.

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi, Masafumi Matsuo

BMC Med Genet. 2010; 11: 49. Published online 2010 Mar 30. doi: 10.1186/1471-2350-11-49

PMCID:: PMC2861025

Abstract Article PDF–899K

Select item 19148415.

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

E. M. McNally, M. R. Passos-Bueno, C. G. Bönnemann, M. Vainzof, E. de Sá Moreira, H. G. Lidov, K. B. Othmane, P. H. Denton, J. M. Vance, M. Zatz, L. M. Kunkel

Am J Hum Genet. 1996 Nov; 59(5): 1040–1047.

PMCID:: PMC1914841

Summary Page Browse PDF–1.6M

Select item 18012606.

Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

K Ben Othmane, M C Speer, J Stauffer, S Blel, L Middleton, C Ben Hamida, A Etribi, D Loeb, F Hentati, A D Roses, et al.

Am J Hum Genet. 1995 Sep; 57(3): 732–734.

PMCID:: PMC1801260

Summary Page Browse PDF–477K

Select item 16823027.

Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping.

L B Jorde, W S Watkins, D Viskochil, P O'Connell, K Ward

Am J Hum Genet. 1993 Nov; 53(5): 1038–1050.

PMCID:: PMC1682302

Summary Page Browse PDF–1.9M

Select item 107644858.

Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs

Yingli Zhu, Thibaut Burg, Katrien Neyrinck, Tim Vervliet, Fatemeharefeh Nami, Ellen Vervoort, Karan Ahuja, Maria Livia Sassano, Yoke Chin Chai, Arun Kumar Tharkeshwar, Jonathan De Smedt, Haibo Hu, Geert Bultynck, Patrizia Agostinis, Johannes V. Swinnen, Ludo Van Den Bosch, Rodrigo Furtado Madeiro da Costa, Catherine Verfaillie

Acta Neuropathol. 2024; 147(1): 6. Published online 2024 Jan 3. doi: 10.1007/s00401-023-02666-x

Correction in:: Acta Neuropathol. 2024; 147(1): 99.

PMCID:: PMC10764485

Abstract Article PDF–13M

Select item 50247049.

Crystal Structures of SgcE6 and SgcC, the Two-Component Monooxygenase That Catalyzes Hydroxylation of a Carrier Protein-Tethered Substrate during the Biosynthesis of the Enediyne Antitumor Antibiotic C-1027 in Streptomyces globisporus

Chin-Yuan Chang, Jeremy R. Lohman, Hongnan Cao, Kemin Tan, Jeffrey D. Rudolf, Ming Ma, Weijun Xu, Craig A. Bingman, Ragothaman M. Yennamalli, Lance Bigelow, Gyorgy Babnigg, Xiaohui Yan, Andrzej Joachimiak, George N. Phillips, Jr., Ben Shen

Biochemistry. 2016 Sep 13; 55(36): 5142–5154. Published online 2016 Aug 25. doi: 10.1021/acs.biochem.6b00713

PMCID:: PMC5024704

Abstract Article PDF–6.3M

Select item 320714210.

Filamin 2 (Fln2): A Muscle-Specific Sarcoglycan Interacting Protein

Terri G. Thompson, Yiu-Mo Chan, Andrew A. Hack, Melissa Brosius, Michael Rajala, Hart G.W. Lidov, Elizabeth M. McNally, Simon Watkins, Louis M. Kunkel

J Cell Biol. 2000 Jan 10; 148(1): 115–126. doi: 10.1083/jcb.148.1.115

PMCID:: PMC3207142

Abstract Article PDF–558K

Select item 292967211.

Biglycan binds to α– and γ– sarcoglycan and regulates their expression during development

Michael S. Rafii, Hiroki Hagiwara, Mary Lynn Mercado, Neung S. Seo, Tianshun Xu, Tracey Dugan, Rick T. Owens, Magnus Hook, David J. McQuillan, Marian F. Young, Justin R. Fallon

J Cell Physiol. Author manuscript; available in PMC 2010 Aug 30.

Published in final edited form as: J Cell Physiol. 2006 Nov; 209(2): 439–447. doi: 10.1002/jcp.20740

PMCID:: PMC2929672

Abstract Article PDF–636K

Select item 324534912.

Genome-Wide Significant Association between Alcohol Dependence and a Variant in the ADH Gene Cluster

Josef Frank, Sven Cichon, Jens Treutlein, Monika Ridinger, Manuel Mattheisen, Per Hoffmann, Stefan Herms, Norbert Wodarz, Michael Soyka, Peter Zill, Wolfgang Maier, Rainald Mössner, Wolfgang Gaebel, Norbert Dahmen, Norbert Scherbaum, Christine Schmäl, Michael Steffens, Susanne Lucae, Marcus Ising, Bertram Müller-Myhsok, Markus M Nöthen, Karl Mann, Falk Kiefer, Marcella Rietschel

Addict Biol. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Addict Biol. 2012 Jan; 17(1): 171–180. Published online 2011 Oct 18. doi: 10.1111/j.1369-1600.2011.00395.x

PMCID:: PMC3245349

Abstract Article PDF–1.1M

Select item 438386113.

Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle

Janelle M. Spinazzola, Tara C. Smith, Min Liu, Elizabeth J. Luna, Elisabeth R. Barton

Hum Mol Genet. 2015 May 1; 24(9): 2470–2481. Published online 2015 Jan 20. doi: 10.1093/hmg/ddv008

PMCID:: PMC4383861

Abstract Article PDF–785K

Select item 312810414.

Genome-Wide Association of Bipolar Disorder Suggests an Enrichment of Replicable Associations in Regions near Genes

Erin N. Smith, Daniel L. Koller, Corrie Panganiban, Szabolcs Szelinger, Peng Zhang, Judith A. Badner, Thomas B. Barrett, Wade H. Berrettini, Cinnamon S. Bloss, William Byerley, William Coryell, Howard J. Edenberg, Tatiana Foroud, Elliot S. Gershon, Tiffany A. Greenwood, Yiran Guo, Maria Hipolito, Brendan J. Keating, William B. Lawson, Chunyu Liu, Pamela B. Mahon, Melvin G. McInnis, Francis J. McMahon, Rebecca McKinney, Sarah S. Murray, Caroline M. Nievergelt, John I. Nurnberger, Jr., Evaristus A. Nwulia, James B. Potash, John Rice, Thomas G. Schulze, William A. Scheftner, Paul D. Shilling, Peter P. Zandi, Sebastian Zöllner, David W. Craig, Nicholas J. Schork, John R. Kelsoe

PLoS Genet. 2011 Jun; 7(6): e1002134. Published online 2011 Jun 30. doi: 10.1371/journal.pgen.1002134

PMCID:: PMC3128104

Abstract Article PDF–270K

Select item 311743615.

A Genomewide Association Study of DSM-IV Cannabis Dependence

Arpana Agrawal, Michael T. Lynskey, Anthony Hinrichs, Richard Grucza, Scott F. Saccone, Robert Krueger, Rosalind Neuman, William Howells, Sherri Fisher, Louis Fox, Robert Cloninger, Danielle M. Dick, Kimberly F. Doheny, Howard J. Edenberg, Alison M. Goate, Victor Hesselbrock, Eric Johnson, John Kramer, Samuel Kuperman, John I Nurnberger, Jr., Elizabeth Pugh, Marc Schuckit, Jay Tischfield, The GENEVA Consortium, John P. Rice, Kathleen K. Bucholz, Laura J. Bierut

Addict Biol. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Addict Biol. 2011 Jul; 16(3): 514–518. Published online 2010 Nov 4. doi: 10.1111/j.1369-1600.2010.00255.x

PMCID:: PMC3117436

Abstract Article PDF–337K

Select item 217522816.

Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture

Yiu-mo Chan, Carsten G. Bönnemann, Hart G.W. Lidov, Louis M. Kunkel

J Cell Biol. 1998 Dec 28; 143(7): 2033–2044. doi: 10.1083/jcb.143.7.2033

PMCID:: PMC2175228

Abstract Article PDF–1.1M

Select item 363664917.

Genome-Wide Association Study Identifies a Novel Locus Contributing to Type 2 Diabetes Susceptibility in Sikhs of Punjabi Origin From India

Richa Saxena, Danish Saleheen, Latonya F. Been, Martha L. Garavito, Timothy Braun, Andrew Bjonnes, Robin Young, Weang Kee Ho, Asif Rasheed, Philippe Frossard, Xueling Sim, Neelam Hassanali, Venkatesan Radha, Manickam Chidambaram, Samuel Liju, Simon D. Rees, Daniel Peng-Keat Ng, Tien-Yin Wong, Toshimasa Yamauchi, Kazuo Hara, Yasushi Tanaka, Hiroshi Hirose, Mark I. McCarthy, Andrew P. Morris, DIAGRAM, MuTHER, AGEN, Abdul Basit, Anthony H. Barnett, Prasad Katulanda, David Matthews, Viswanathan Mohan, Gurpreet S. Wander, Jai Rup Singh, Narinder K. Mehra, Sarju Ralhan, M. Ilyas Kamboh, John J. Mulvihill, Hiroshi Maegawa, Kazuyuki Tobe, Shiro Maeda, Yoon S. Cho, E. Shyong Tai, M. Ann Kelly, John C. Chambers, Jaspal S. Kooner, Takashi Kadowaki, Panos Deloukas, Daniel J. Rader, John Danesh, Dharambir K. Sanghera

Diabetes. 2013 May; 62(5): 1746–1755. Published online 2013 Apr 16. doi: 10.2337/db12-1077

PMCID:: PMC3636649

Abstract Article PDF–872K

Select item 372012318.

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Yi Lu, Veronique Vitart, Kathryn P Burdon, Chiea Chuen Khor, Yelena Bykhovskaya, Alireza Mirshahi, Alex W Hewitt, Demelza Koehn, Pirro G Hysi, Wishal D Ramdas, Tanja Zeller, Eranga N Vithana, Belinda K Cornes, Wan-Ting Tay, E Shyong Tai, Ching-Yu Cheng, Jianjun Liu, Jia-Nee Foo, Seang Mei Saw, Gudmar Thorleifsson, Kari Stefansson, David P Dimasi, Richard A Mills, Jenny Mountain, Wei Ang, René Hoehn, Virginie J M Verhoeven, Franz Grus, Roger Wolfs, Raphaële Castagne, Karl J Lackner, Henriët Springelkamp, Jian Yang, Fridbert Jonasson, Dexter Y L Leung, Li J Chen, Clement C Y Tham, Igor Rudan, Zoran Vatavuk, Caroline Hayward, Jane Gibson, Angela J Cree, Alex MacLeod, Sarah Ennis, Ozren Polasek, Harry Campbell, James F Wilson, Ananth C Viswanathan, Brian Fleck, Xiaohui Li, David Siscovick, Kent D Taylor, Jerome I Rotter, Seyhan Yazar, Megan Ulmer, Jun Li, Brian L Yaspan, Ayse B Ozel, Julia E Richards, Sayoko E Moroi, Jonathan L Haines, Jae H Kang, Louis R Pasquale, R Rand Allingham, Allison Ashley-Koch, NEIGHBOR Consortium, Paul Mitchell, Jie Jin Wang, Alan F Wright, Craig Pennell, Timothy D Spector, Terri L Young, Caroline C W Klaver, Nicholas G Martin, Grant W Montgomery, Michael G Anderson, Tin Aung, Colin E Willoughby, Janey L Wiggs, Chi P Pang, Unnur Thorsteinsdottir, Andrew J Lotery, Christopher J Hammond, Cornelia M van Duijn, Michael A Hauser, Yaron S Rabinowitz, Norbert Pfeiffer, David A Mackey, Jamie E Craig, Stuart Macgregor, Tien Y Wong

Nat Genet. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Nat Genet. 2013 Feb; 45(2): 155–163. Published online 2013 Jan 6. doi: 10.1038/ng.2506

PMCID:: PMC3720123

Abstract Article PDF–1.2M

Select item 361021419.

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard

Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3

PMCID:: PMC3610214

Abstract Article PDF–1.7M

Select item 319082620.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Abstract Article PDF–5.7M

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