PMC Links for Nucleotide (Select 1732746190) - PMC

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Items: 19

Select item 52990331.

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 65866992.

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Manu Jokela, Sara Lehtinen, Johanna Palmio, Anna-Maija Saukkonen, Sanna Huovinen, Anna Vihola, Bjarne Udd

J Neurol. 2019; 266(7): 1649–1654. Published online 2019 Apr 8. doi: 10.1007/s00415-019-09307-y

PMCID:: PMC6586699

Abstract Article PDF–988K

Select item 65441253.

Identify CRNDE and LINC00152 as the key lncRNAs in age-related degeneration of articular cartilage through comprehensive and integrative analysis

Pengfei Hu, Fangfang Sun, Jisheng Ran, Lidong Wu

PeerJ. 2019; 7: e7024. Published online 2019 May 28. doi: 10.7717/peerj.7024

PMCID:: PMC6544125

Abstract Article PDF–2.0M

Select item 60260764.

Influence of lipopolysaccharide on proinflammatory gene expression in human corneal, conjunctival and meibomian gland epithelial cells

Di Chen, Afsun Sahin, Wendy R. Kam, Yang Liu, Raheleh Rahimi Darabad, David A. Sullivan

Ocul Surf. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Ocul Surf. 2018 Jul; 16(3): 382–389. Published online 2018 May 31. doi: 10.1016/j.jtos.2018.05.003

PMCID:: PMC6026076

Abstract Article PDF–396K

Select item 57317055.

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy

Russell J. Butterfield, Diane M. Dunn, Ying Hu, Kory Johnson, Carsten G. Bönnemann, Robert B. Weiss

PLoS One. 2017; 12(12): e0189664. Published online 2017 Dec 15. doi: 10.1371/journal.pone.0189664

PMCID:: PMC5731705

Abstract Article PDF–2.4M

Select item 49606026.

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

Reuben J. Pengelly, Liliana Arias, Julio Martínez, Rosanna Upstill-Goddard, Eleanor G. Seaby, Jane Gibson, Sarah Ennis, Andrew Collins, Ignacio Briceño

Sci Rep. 2016; 6: 30457. Published online 2016 Jul 26. doi: 10.1038/srep30457

PMCID:: PMC4960602

Abstract Article PDF–471K

Select item 45216927.

Microarray-Based Analysis of Methylation Status of CpGs in Placental DNA and Maternal Blood DNA – Potential New Epigenetic Biomarkers for Cell Free Fetal DNA-Based Diagnosis

Lotte Hatt, Mads M. Aagaard, Jesper Graakjaer, Cathrine Bach, Steffen Sommer, Inge E. Agerholm, Steen Kølvraa, Anders Bojesen

PLoS One. 2015; 10(7): e0128918. Published online 2015 Jul 31. doi: 10.1371/journal.pone.0128918

PMCID:: PMC4521692

Abstract Article PDF–1.9M

Select item 38154888.

Effects of Estradiol on Transcriptional Profiles in Atherosclerotic Iliac Arteries in Ovariectomized Cynomolgus Macaques

Kathleen M. Eyster, Susan Appt, Abha Chalpe, Connie J. Mark-Kappeler, Thomas C. Register, Thomas B. Clarkson

Menopause. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Menopause. 2014 Feb; 21(2): 143–152. doi: 10.1097/GME.0b013e31829367c0

PMCID:: PMC3815488

Abstract Article PDF–936K

Select item 37899719.

Interleukin-4 Induces Senescence in Human Renal Carcinoma Cell Lines through STAT6 and p38 MAPK

Hag Dong Kim, Su-Jin Yu, Hee Suk Kim, Yong-Jin Kim, Jeong Min Choe, Yun Gyu Park, Joon Kim, Jeongwon Sohn

J Biol Chem. 2013 Oct 4; 288(40): 28743–28754. Published online 2013 Aug 9. doi: 10.1074/jbc.M113.499053

PMCID:: PMC3789971

Abstract Article PDF–2.0M

Select item 350269410.

Transcriptomic Analysis of Postmortem Brain identifies Dysregulated Splicing Events in Novel Candidate Genes for Schizophrenia

Ori S. Cohen, Sarah Y. Mccoy, Frank A. Middleton, Sean Bialosuknia, Yanli Zhang-James, Lu Liu, Ming T. Tsuang, Stephen V. Faraone, Stephen J. Glatt

Schizophr Res. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Schizophr Res. 2012 Dec; 142(1-3): 188–199. Published online 2012 Oct 9. doi: 10.1016/j.schres.2012.09.015

PMCID:: PMC3502694

Abstract Article PDF–678K

Select item 320788011.

Over-Expression of DSCAM and COL6A2 Cooperatively Generates Congenital Heart Defects

Tamar R. Grossman, Amir Gamliel, Robert J. Wessells, Ouarda Taghli-Lamallem, Kristen Jepsen, Karen Ocorr, Julie R. Korenberg, Kirk L. Peterson, Michael G. Rosenfeld, Rolf Bodmer, Ethan Bier

PLoS Genet. 2011 Nov; 7(11): e1002344. Published online 2011 Nov 3. doi: 10.1371/journal.pgen.1002344

PMCID:: PMC3207880

Abstract Article PDF–4.1M

Select item 295458412.

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies

G Piluso, S Aurino, M Cacciottolo, F Del Vecchio Blanco, A Lancioni, IL Rotundo, A Torella, V Nigro

Acta Myol. 2010 Jul; 29(1): 1–20.

PMCID:: PMC2954584

Abstract Article PDF–699K

Select item 290448513.

Vascular gene expression patterns are conserved in primary and metastatic brain tumors

Yang Liu, Eleanor B. Carson-Walter, Anna Cooper, Bethany N. Winans, Mahlon D. Johnson, Kevin A. Walter

J Neurooncol. Author manuscript; available in PMC 2011 Aug 1.

Published in final edited form as: J Neurooncol. 2010 Aug; 99(1): 13–24. Published online 2010 Jan 9. doi: 10.1007/s11060-009-0105-0

PMCID:: PMC2904485

Abstract Article PDF–1.8M

Select item 285089514.

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