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Select item 96028361.

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

Sofya A. Ionova, Aysylu F. Murtazina, Inna S. Tebieva, Zalina K. Getoeva, Elena L. Dadali, Polina A. Chausova, Olga A. Shchagina, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko

Int J Mol Sci. 2022 Oct; 23(20): 12127. Published online 2022 Oct 12. doi: 10.3390/ijms232012127

PMCID:: PMC9602836

Abstract Article PDF–977K

Select item 78955172.

Use of RNA-sequencing to detect abnormal transcription of the collagen α-2 (VI) chain gene that can lead to Bethlem myopathy

Jingzi Zhong, Yanshu Xie, Yiwu Dang, Jiapeng Zhang, Yingru Song, Dan Lan

Int J Mol Med. 2021 Mar; 47(3): 28. Published online 2021 Jan 28. doi: 10.3892/ijmm.2021.4861

PMCID:: PMC7895517

Abstract Article PDF–760K

Select item 52990333.

Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy

Constanza Echeverría, Alejandra Diaz, Bernardita Suarez, Jorge A. Bevilacqua, Carsten Bonnemann, Enrico Bertini, Claudia Castiglioni

Acta Derm Venereol. Author manuscript; available in PMC 2017 Feb 9.

Published in final edited form as: Acta Derm Venereol. 2017 Feb 8; 97(2): 297–298. doi: 10.2340/00015555-2523

PMCID:: PMC5299033

Article PDF–340K

Select item 43268354.

Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain

Laura K. Zamurs, Miguel A. Idoate, Eric Hanssen, Asier Gomez-Ibañez, Pau Pastor, Shireen R. Lamandé

J Biol Chem. 2015 Feb 13; 290(7): 4272–4281. Published online 2014 Dec 22. doi: 10.1074/jbc.M114.632208

PMCID:: PMC4326835

Abstract Article PDF–2.4M

Select item 28508955.

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Matteo Bovolenta, Marcella Neri, Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Paolo Grumati, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bonaldo, Alessandra Ferlini, Francesca Gualandi

BMC Med Genet. 2010; 11: 44. Published online 2010 Mar 19. doi: 10.1186/1471-2350-11-44

PMCID:: PMC2850895

Abstract Article PDF–1.9M

Select item 28431646.

Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy: ROLE OF THE C2a SPLICE VARIANT

Rui-Zhu Zhang, Yaqun Zou, Te-Cheng Pan, Dessislava Markova, Andrzej Fertala, Ying Hu, Stefano Squarzoni, Umbertina Conti Reed, Suely K. N. Marie, Carsten G. Bönnemann, Mon-Li Chu

J Biol Chem. 2010 Mar 26; 285(13): 10005–10015. Published online 2010 Jan 27. doi: 10.1074/jbc.M109.093666

PMCID:: PMC2843164

Abstract Article PDF–4.1M

Select item 347007.

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Olga Camacho Vanegas, Enrico Bertini, Rui-Zhu Zhang, Stefania Petrini, Claudia Minosse, Patrizia Sabatelli, Betti Giusti, Mon-Li Chu, Guglielmina Pepe

Proc Natl Acad Sci U S A. 2001 Jun 19; 98(13): 7516–7521. Published online 2001 May 29. doi: 10.1073/pnas.121027598

PMCID:: PMC34700

Abstract Article PDF–283K

Select item 4010548.

Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus.

M L Chu, T C Pan, D Conway, H J Kuo, R W Glanville, R Timpl, K Mann, R Deutzmann

EMBO J. 1989 Jul; 8(7): 1939–1946. doi: 10.1002/j.1460-2075.1989.tb03598.x

PMCID:: PMC401054

Summary Page Browse PDF–1.6M

Select item 2757469.

Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface.

A Nishiyama, W B Stallcup

Mol Biol Cell. 1993 Nov; 4(11): 1097–1108. doi: 10.1091/mbc.4.11.1097

PMCID:: PMC275746

Summary Page Browse PDF–3.3M

Select item 1005997310.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D’Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga

Int J Mol Sci. 2023 Mar; 24(6): 5551. Published online 2023 Mar 14. doi: 10.3390/ijms24065551

PMCID:: PMC10059973

Abstract Article PDF–11M

Select item 707244111.

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations

Manuela Antoniel, Francesco Traina, Luciano Merlini, Davide Andrenacci, Domenico Tigani, Spartaco Santi, Vittoria Cenni, Patrizia Sabatelli, Cesare Faldini, Stefano Squarzoni

Cells. 2020 Feb; 9(2): 409. Published online 2020 Feb 11. doi: 10.3390/cells9020409

PMCID:: PMC7072441

Abstract Article PDF–2.9M

Select item 460157312.

Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability

Sandra Donkervoort, Ying Hu, Tanya Stojkovic, Nicol Voermans, A. Reghan Foley, Meganne E Leach, Jahannaz Dastgir, Veronique Bolduc, Thomas Cullup, Alix de Becdelièvre, Lin Yang, Hai Su, Katherine Meilleur, Alice B. Schindler, Erik-Jan Kamsteeg, Pascale Richard, Russell Butterfield, Thomas L. Winder, Thomas Crawford, Robert B. Weiss, Francesco Muntoni, Valérie Allamand, Carsten G. Bönnemann

Hum Mutat. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Hum Mutat. 2015 Jan; 36(1): 48–56. doi: 10.1002/humu.22691

PMCID:: PMC4601573

Abstract Article PDF–760K

Select item 173612713.

Collagen VI related muscle disorders

A Lampe, K Bushby

J Med Genet. 2005 Sep; 42(9): 673–685. doi: 10.1136/jmg.2002.002311

PMCID:: PMC1736127

Summary PDF–365K

Select item 171516214.

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

D Weil, M G Mattei, E Passage, V C N'Guyen, D Pribula-Conway, K Mann, R Deutzmann, R Timpl, M L Chu

Am J Hum Genet. 1988 Mar; 42(3): 435–445.

PMCID:: PMC1715162

Summary Page Browse PDF–2.2M

Select item 118037215.

New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

Te-Cheng Pan, Rui-Zhu Zhang, Dominick G. Sudano, Suely K. Marie, Carsten G. Bönnemann, Mon-Li Chu

Am J Hum Genet. 2003 Aug; 73(2): 355–369. Published online 2003 Jul 1. doi: 10.1086/377107

PMCID:: PMC1180372

Abstract Article PDF–1.3M

Select item 524897016.

The expanded collagen VI family: new chains and new questions

Jamie Fitzgerald, Paul Holden, Uwe Hansen

Connect Tissue Res. Author manuscript; available in PMC 2017 Jan 20.

Published in final edited form as: Connect Tissue Res. 2013; 54(6): 345–350. Published online 2013 Aug 23. doi: 10.3109/03008207.2013.822865

PMCID:: PMC5248970

Abstract Article PDF–846K

Select item 270918517.

Identification of Novel SHPS-1-associated Proteins and Their Roles in Regulation of Insulin-like Growth Factor-dependent Responses in Vascular Smooth Muscle Cells

Xinchun Shen, Gang Xi, Yashwanth Radhakrishnan, David R. Clemmons

Mol Cell Proteomics. 2009 Jul; 8(7): 1539–1551. Published online 2009 Mar 18. doi: 10.1074/mcp.M800543-MCP200

PMCID:: PMC2709185

Abstract Article PDF–538K

Select item 286078318.

Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer’s disease

J Chapuis, D Hot, F Hansmannel, O Kerdraon, S Ferreira, C Hubans, CA Maurage, L Huot, F Bensemain, G Laumet, AM Ayral, N Fievet, JJ Hauw, ST DeKosky, Y Lemoine, T Iwatsubo, F Wavrant-Devrièze, JF Dartigues, C Tzourio, L Buée, F Pasquier, C Berr, D Mann, C Lendon, A Alpérovitch, MI Kamboh, P Amouyel, JC Lambert

Mol Psychiatry. Author manuscript; available in PMC 2010 Apr 28.

Published in final edited form as: Mol Psychiatry. 2009 Nov; 14(11): 1004–1016. Published online 2009 Feb 10. doi: 10.1038/mp.2009.10

PMCID:: PMC2860783

Abstract Article PDF–1.3M

Select item 819174219.

Comprehensive proteomic characterization of stem cell-derived extracellular matrices

Héloïse Ragelle, Alexandra Naba, Benjamin L. Larson, Fangheng Zhou, Miralem Prijic, Charles A. Whittaker, Amanda Del Rosario, Robert Langer, Richard O. Hynes, Daniel G. Anderson

Biomaterials. Author manuscript; available in PMC 2021 Jun 10.

Published in final edited form as: Biomaterials. 2017 Jun; 128: 147–159. Published online 2017 Mar 7. doi: 10.1016/j.biomaterials.2017.03.008

PMCID:: PMC8191742

Abstract Article PDF–1.5M

Select item 369664620.

Comparative Proteomic Analysis of Supportive and Unsupportive Extracellular Matrix Substrates for Human Embryonic Stem Cell Maintenance

Despina Soteriou, Banu Iskender, Adam Byron, Jonathan D. Humphries, Simon Borg-Bartolo, Marie-Claire Haddock, Melissa A. Baxter, David Knight, Martin J. Humphries, Susan J. Kimber

J Biol Chem. 2013 Jun 28; 288(26): 18716–18731. Published online 2013 May 8. doi: 10.1074/jbc.M113.463372

PMCID:: PMC3696646

Abstract Article PDF–5.0M

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