PMC Links for Nucleotide (Select 1732746321) - PMC

Select item 48821901.

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 41083952.

Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G

Amirtharaj Francis, Balaraju Sunitha, Kandavalli Vinodh, Kiran Polavarapu, Shiva Krishna Katkam, Sailesh Modi, M. M. Srinivas Bharath, Narayanappa Gayathri, Atchayaram Nalini, Kumarasamy Thangaraj

PLoS One. 2014; 9(7): e102763. Published online 2014 Jul 23. doi: 10.1371/journal.pone.0102763

PMCID:: PMC4108395

Abstract Article PDF–2.5M

Select item 17158433.

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

E S Moreira, M Vainzof, S K Marie, A L Sertié, M Zatz, M R Passos-Bueno

Am J Hum Genet. 1997 Jul; 61(1): 151–159. doi: 10.1086/513889

PMCID:: PMC1715843

Summary Page Browse PDF–1.6M

Select item 69586754.

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo

Orphanet J Rare Dis. 2020; 15: 11. Published online 2020 Jan 13. doi: 10.1186/s13023-019-1291-2

PMCID:: PMC6958675

Abstract Article PDF–739K

Select item 58475175.

Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy

Patrícia B. S. Celestino-Soper, Ty C. Lynnes, Lili Zhang, Karen Ouyang, Samuel Wann, Victoria L. Clyde, Matteo Vatta

Sci Rep. 2018; 8: 4350. Published online 2018 Mar 12. doi: 10.1038/s41598-018-22334-5

PMCID:: PMC5847517

Abstract Article PDF–1.7M

Select item 50006376.

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Speranza Rubattu, Cristina Bozzao, Ermelinda Pennacchini, Erika Pagannone, Beatrice Maria Musumeci, Maria Piane, Aldo Germani, Camilla Savio, Pietro Francia, Massimo Volpe, Camillo Autore, Luciana Chessa

Int J Mol Sci. 2016 Aug; 17(8): 1239. Published online 2016 Jul 30. doi: 10.3390/ijms17081239

PMCID:: PMC5000637

Abstract Article PDF–229K

Select item 41333627.

Circadian Regulation of Myocardial Sarcomeric Titin-cap (Tcap, Telethonin): Identification of Cardiac Clock-Controlled Genes Using Open Access Bioinformatics Data

Peter S. Podobed, Faisal J. Alibhai, Chi-Wing Chow, Tami A. Martino

PLoS One. 2014; 9(8): e104907. Published online 2014 Aug 14. doi: 10.1371/journal.pone.0104907

PMCID:: PMC4133362

Abstract Article PDF–783K

Select item 33591998.

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira, Vasco Lança, Dulce Brito, Hugo Madeira, J Fonseca Esteves, António Freitas, Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes

BMC Med Genet. 2012; 13: 17. Published online 2012 Mar 19. doi: 10.1186/1471-2350-13-17

PMCID:: PMC3359199

Abstract Article PDF–1.5M

Select item 30187469.

A novel custom resequencing array for dilated cardiomyopathy

Rebekah S. Zimmerman, Stephanie Cox, Neal K. Lakdawala, Allison Cirino, Debora Mancini-DiNardo, Eugene Clark, Annette Leon, Elizabeth Duffy, Emily White, Samantha Baxter, Manal Alaamery, Lisa Farwell, Scott Weiss, Christine E. Seidman, Jonathan G. Seidman, Carolyn Y. Ho, Heidi L. Rehm, Birgit H. Funke

Genet Med. Author manuscript; available in PMC 2011 Jan 11.

Published in final edited form as: Genet Med. 2010 May; 12(5): 268–278. doi: 10.1097/GIM.0b013e3181d6f7c0

PMCID:: PMC3018746

Abstract Article PDF–100K

Select item 296391010.

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications

Sivakumar Gowrisankar, Jordan P. Lerner-Ellis, Stephanie Cox, Emily T. White, Megan Manion, Kevin LeVan, Jonathan Liu, Lisa M. Farwell, Oleg Iartchouk, Heidi L. Rehm, Birgit H. Funke

J Mol Diagn. 2010 Nov; 12(6): 818–827. doi: 10.2353/jmoldx.2010.100014

PMCID:: PMC2963910

Abstract Article PDF–588K

Select item 295458411.

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 295458312.

Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene

L Negrão, A Matos, A Geraldo, O Rebelo

Acta Myol. 2010 Jul; 29(1): 21–24.

PMCID:: PMC2954583

Abstract Article PDF–314K

Select item 275814313.

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere–membrane interaction, not sarcomere assembly

Ruilin Zhang, Jingchun Yang, Jin Zhu, Xiaolei Xu

Hum Mol Genet. 2009 Nov 1; 18(21): 4130–4140. Published online 2009 Aug 12. doi: 10.1093/hmg/ddp362

PMCID:: PMC2758143

Abstract Article PDF–437K

Select item 263392114.

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

Ray E. Hershberger, Sharie B. Parks, Jessica D. Kushner, Duanxiang Li, Susan Ludwigsen, Petra Jakobs, Deirdre Nauman, Donna Burgess, Julie Partain, Michael Litt

Clin Transl Sci. 2008 May; 1(1): 21–26. Published online 2008 May 21. doi: 10.1111/j.1752-8062.2008.00017.x

PMCID:: PMC2633921

Abstract Article PDF–932K

Select item 219467115.

Canine candidate genes for dilated cardiomyopathy: annotation of and polymorphic markers for 14 genes

Anje C Wiersma, Peter AJ Leegwater, Bernard A van Oost, William E Ollier, Joanna Dukes-McEwan

BMC Vet Res. 2007; 3: 28. Published online 2007 Oct 19. doi: 10.1186/1746-6148-3-28

PMCID:: PMC2194671

Abstract Article PDF–297K

Select item 52442116.

Decoding Human Regulatory Circuits

William Thompson, Michael J. Palumbo, Wyeth W. Wasserman, Jun S. Liu, Charles E. Lawrence

Genome Res. 2004 Oct; 14(10a): 1967–1974. doi: 10.1101/gr.2589004

PMCID:: PMC524421

Abstract Article PDF–229K

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