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Items: 1 to 20 of 31

1.

Identification and Characterization of Novel Matrix-Derived Bioactive Peptides: A Role for Collagenase from Santyl® Ointment in Post-Debridement Wound Healing?

Sheets AR, Demidova-Rice TN, Shi L, Ronfard V, Grover KV, Herman IM.

PLoS One. 2016 Jul 26;11(7):e0159598. doi: 10.1371/journal.pone.0159598. eCollection 2016.

2.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.

Am J Hum Genet. 2016 Mar 3;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.

3.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR.

J Clin Invest. 2016 Feb;126(2):762-78. doi: 10.1172/JCI84457. Epub 2016 Jan 11.

4.

Glycosyltransferase ST6GAL1 contributes to the regulation of pluripotency in human pluripotent stem cells.

Wang YC, Stein JW, Lynch CL, Tran HT, Lee CY, Coleman R, Hatch A, Antontsev VG, Chy HS, O'Brien CM, Murthy SK, Laslett AL, Peterson SE, Loring JF.

Sci Rep. 2015 Aug 25;5:13317. doi: 10.1038/srep13317.

5.

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J.

Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21.

6.

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.

Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.

Biochim Biophys Acta. 2014 Sep;1842(9):1604-12. doi: 10.1016/j.bbadis.2014.05.033. Epub 2014 Jun 5.

7.

Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy.

Alexeev V, Arita M, Donahue A, Bonaldo P, Chu ML, Igoucheva O.

Stem Cell Res Ther. 2014 Feb 12;5(1):21. doi: 10.1186/scrt411.

8.

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.

Bolduc V, Zou Y, Ko D, Bönnemann CG.

Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74.

9.

Genome wide analysis indicates genes for basement membrane and cartilage matrix proteins as candidates for hip dysplasia in Labrador Retrievers.

Lavrijsen IC, Leegwater PA, Martin AJ, Harris SJ, Tryfonidou MA, Heuven HC, Hazewinkel HA.

PLoS One. 2014 Jan 30;9(1):e87735. doi: 10.1371/journal.pone.0087735. eCollection 2014.

10.

Proteomic analysis of human dental cementum and alveolar bone.

Salmon CR, Tomazela DM, Ruiz KG, Foster BL, Paes Leme AF, Sallum EA, Somerman MJ, Nociti FH Jr.

J Proteomics. 2013 Oct 8;91:544-55. doi: 10.1016/j.jprot.2013.08.016. Epub 2013 Sep 2.

11.

The expanded collagen VI family: new chains and new questions.

Fitzgerald J, Holden P, Hansen U.

Connect Tissue Res. 2013;54(6):345-50. doi: 10.3109/03008207.2013.822865. Epub 2013 Aug 23. Review.

12.

Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy.

Plonka C, Wearden PD, Morell VO, Miller SA, Webber SA, Feingold B.

Am J Transplant. 2013 Jul;13(7):1915-7. doi: 10.1111/ajt.12246. Epub 2013 May 13.

13.

Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.

Dey A, Bhowmik K, Chatterjee A, Chakrabarty PB, Sinha S, Mukhopadhyay K.

Front Genet. 2013 Apr 22;4:57. doi: 10.3389/fgene.2013.00057. eCollection 2013.

14.

Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.

Bernardi P, Bonaldo P.

Cold Spring Harb Perspect Biol. 2013 May 1;5(5):a011387. doi: 10.1101/cshperspect.a011387. Review.

15.

Changes in muscle cell metabolism and mechanotransduction are associated with myopathic phenotype in a mouse model of collagen VI deficiency.

De Palma S, Leone R, Grumati P, Vasso M, Polishchuk R, Capitanio D, Braghetta P, Bernardi P, Bonaldo P, Gelfi C.

PLoS One. 2013;8(2):e56716. doi: 10.1371/journal.pone.0056716. Epub 2013 Feb 20.

16.

Incidental medical information in whole-exome sequencing.

Solomon BD, Hadley DW, Pineda-Alvarez DE; NISC Comparative Sequencing Program., Kamat A, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Berkman BE, Chandrasekharappa SC, Mullikin JC.

Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14.

17.

Animal models of muscular dystrophy.

Ng R, Banks GB, Hall JK, Muir LA, Ramos JN, Wicki J, Odom GL, Konieczny P, Seto J, Chamberlain JR, Chamberlain JS.

Prog Mol Biol Transl Sci. 2012;105:83-111. doi: 10.1016/B978-0-12-394596-9.00004-4. Review.

18.

Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies.

Sabatelli P, Palma E, Angelin A, Squarzoni S, Urciuolo A, Pellegrini C, Tiepolo T, Bonaldo P, Gualandi F, Merlini L, Bernardi P, Maraldi NM.

J Cell Physiol. 2012 Jul;227(7):2927-35. doi: 10.1002/jcp.23039.

19.

ColVI myopathies: where do we stand, where do we go?

Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G.

Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30.

20.

From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.

Barresi R.

Skelet Muscle. 2011 Jun 24;1(1):24. doi: 10.1186/2044-5040-1-24.

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