PMC Links for Nucleotide (Select 1732746150) - PMC

Select item 54798431.

Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains

Vid Puž, Miha Pavšič, Brigita Lenarčič, Kristina Djinović-Carugo

Sci Rep. 2017; 7: 3993. Published online 2017 Jun 21. doi: 10.1038/s41598-017-03323-6

PMCID:: PMC5479843

Select item 48821902.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 16832113.

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

M J Dixon, A P Read, D Donnai, A Colley, J Dixon, R Williamson

Am J Hum Genet. 1991 Jul; 49(1): 17–22.

PMCID:: PMC1683211

Summary Page Browse PDF–675K

Select item 16825584.

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q

Marcy C. Speer, Larry H. Yamaoka, James H. Gilchrist, C. P. Gaskell, Jeffrey M. Stajich, Jeffery M. Vance, Alexey Kazantsev, Anselmo A. Lastra, Carol S. Haynes, Jacques S. Beckmann, Daniel Cohen, James L. Weber, Allen D. Roses, Margaret A. Pericak-Vance

Am J Hum Genet. 1992 Jun; 50(6): 1211–1217.

PMCID:: PMC1682558

Summary Page Browse PDF–1.0M

Select item 60286085.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek A. Yousry

Front Neurol. 2018; 9: 456. Published online 2018 Jun 26. doi: 10.3389/fneur.2018.00456

PMCID:: PMC6028608

Abstract Article PDF–1.8M

Select item 59554006.

Chloride intracellular channel 1 as a switch among tumor behaviors in human esophageal squamous cell carcinoma

Toshiyuki Kobayashi, Atsushi Shiozaki, Yoshito Nako, Daisuke Ichikawa, Toshiyuki Kosuga, Katsutoshi Shoda, Tomohiro Arita, Hirotaka Konishi, Shuhei Komatsu, Takeshi Kubota, Hitoshi Fujiwara, Kazuma Okamoto, Mitsuo Kishimoto, Eiichi Konishi, Yoshinori Marunaka, Eigo Otsuji

Oncotarget. 2018 May 1; 9(33): 23237–23252. Published online 2018 May 1. doi: 10.18632/oncotarget.25296

PMCID:: PMC5955400

Abstract Article PDF–5.9M

Select item 51688247.

DNA Hypomethylation in Intragenic and Intergenic Enhancer Chromatin of Muscle-Specific Genes Usually Correlates with their Expression

Kenneth C. Ehrlich, Heather L. Paterson, Michelle Lacey, Melanie Ehrlich

Yale J Biol Med. 2016 Dec; 89(4): 441–455. Published online 2016 Dec 23.

PMCID:: PMC5168824

Abstract Article PDF–13M

Select item 50663708.

Mitochondrial dysfunction in myofibrillar myopathy

Amy E. Vincent, John P. Grady, Mariana C. Rocha, Charlotte L. Alston, Karolina A. Rygiel, Rita Barresi, Robert W. Taylor, Doug M. Turnbull

Neuromuscul Disord. 2016 Oct; 26(10): 691–701. doi: 10.1016/j.nmd.2016.08.004

PMCID:: PMC5066370

Abstract Article

Select item 48191169.

Genetic Comparison of Stemness of Human Umbilical Cord and Dental Pulp

Chung-Min Kang, Hyunok Kim, Je Seon Song, Byung-Jai Choi, Seong-Oh Kim, Han-Sung Jung, Seok-Jun Moon, Hyung-Jun Choi

Stem Cells Int. 2016; 2016: 3453890. Published online 2016 Mar 21. doi: 10.1155/2016/3453890

PMCID:: PMC4819116

Abstract Article PDF–3.1M

Select item 413647210.

ALTERED MEF2 ISOFORMS IN MYOTONIC DYSTROPHY AND OTHER NEUROMUSCULAR DISORDERS

LINDA L. BACHINSKI, MARIO SIRITO, MARIA BÖHME, KEITH A. BAGGERLY, BJARNE UDD, RALF KRAHE

Muscle Nerve. Author manuscript; available in PMC 2014 Aug 18.

Published in final edited form as: Muscle Nerve. 2010 Dec; 42(6): 856–863. doi: 10.1002/mus.21789

PMCID:: PMC4136472

Abstract Article PDF–589K

Select item 384842811.

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes

Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter

BMC Med Genet. 2013; 14: 92. Published online 2013 Sep 16. doi: 10.1186/1471-2350-14-92

PMCID:: PMC3848428

Abstract Article PDF–1.1M

Select item 353518412.

Mutated KRAS Results in Overexpression of DUSP4, a MAP-Kinase Phosphatase, and SMYD3, a Histone Methyltransferase, in Rectal Carcinomas

Jochen Gaedcke, Marian Grade, Klaus Jung, Jordi Camps, Peter Jo, Georg Emons, Anastasia Gehoff, Ulrich Sax, Markus Schirmer, Heinz Becker, Tim Beissbarth, Thomas Ried, B. Michael Ghadimi

Genes Chromosomes Cancer. Author manuscript; available in PMC 2013 Jan 3.

Published in final edited form as: Genes Chromosomes Cancer. 2010 Nov; 49(11): 1024–1034. doi: 10.1002/gcc.20811