Literature DB >> 28611034

The Missing LINC for Genetic Cardiovascular Disease?

Megan J Puckelwartz1.   

Abstract

Entities:  

Keywords:  Editorials; atrial fibrillation; cardiovascular diseases; genetics; heart failure; nuclear envelope; nuclear pore

Mesh：

Substances：

Year:  2017        PMID： 28611034      PMCID： PMC5508606          DOI： 10.1161/CIRCGENETICS.117.001793

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  17 in total

Review 1.  Nuclear pore complexes and regulation of gene expression.

Authors:  Marcela Raices; Maximiliano A D'Angelo
Journal:  Curr Opin Cell Biol       Date:  2017-01-11       Impact factor: 8.382

Review 2.  LINC complex proteins in development and disease.

Authors:  Henning F Horn
Journal:  Curr Top Dev Biol       Date:  2014       Impact factor: 4.897

Review 3.  Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine.

Authors:  Victoria N Parikh; Euan A Ashley
Journal:  Circulation       Date:  2017-01-31       Impact factor: 29.690

4.  Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.

Authors:  Florencia Del Viso; Fang Huang; Jordan Myers; Madeleine Chalfant; Yongdeng Zhang; Nooreen Reza; Joerg Bewersdorf; C Patrick Lusk; Mustafa K Khokha
Journal:  Dev Cell       Date:  2016-09-01       Impact factor: 12.270

5.  Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.

Authors:  Xianqin Zhang; Shenghan Chen; Shin Yoo; Susmita Chakrabarti; Teng Zhang; Tie Ke; Carlos Oberti; Sandro L Yong; Fang Fang; Lin Li; Roberto de la Fuente; Lejin Wang; Qiuyun Chen; Qing Kenneth Wang
Journal:  Cell       Date:  2008-12-12       Impact factor: 41.582

6.  Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

Authors:  Megan J Puckelwartz; Eric Kessler; Yuan Zhang; Didier Hodzic; K Natalie Randles; Glenn Morris; Judy U Earley; Michele Hadhazy; James M Holaska; Stephanie K Mewborn; Peter Pytel; Elizabeth M McNally
Journal:  Hum Mol Genet       Date:  2008-11-13       Impact factor: 6.150

7.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

8.  POM121 and Sun1 play a role in early steps of interphase NPC assembly.

Authors:  Jessica A Talamas; Martin W Hetzer
Journal:  J Cell Biol       Date:  2011-07-04       Impact factor: 10.539

9.  The ExAC browser: displaying reference data information from over 60 000 exomes.

Authors:  Konrad J Karczewski; Ben Weisburd; Brett Thomas; Matthew Solomonson; Douglas M Ruderfer; David Kavanagh; Tymor Hamamsy; Monkol Lek; Kaitlin E Samocha; Beryl B Cummings; Daniel Birnbaum; Mark J Daly; Daniel G MacArthur
Journal:  Nucleic Acids Res       Date:  2016-11-28       Impact factor: 16.971

10.  Truncations of titin causing dilated cardiomyopathy.

Authors:  Daniel S Herman; Lien Lam; Matthew R G Taylor; Libin Wang; Polakit Teekakirikul; Danos Christodoulou; Lauren Conner; Steven R DePalma; Barbara McDonough; Elizabeth Sparks; Debbie Lin Teodorescu; Allison L Cirino; Nicholas R Banner; Dudley J Pennell; Sharon Graw; Marco Merlo; Andrea Di Lenarda; Gianfranco Sinagra; J Martijn Bos; Michael J Ackerman; Richard N Mitchell; Charles E Murry; Neal K Lakdawala; Carolyn Y Ho; Paul J R Barton; Stuart A Cook; Luisa Mestroni; J G Seidman; Christine E Seidman
Journal:  N Engl J Med       Date:  2012-02-16       Impact factor: 91.245
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  2 in total

Review 1.  Nucleoporins in cardiovascular disease.

Authors:  Ryan D Burdine; Claudia C Preston; Riley J Leonard; Tyler A Bradley; Randolph S Faustino
Journal:  J Mol Cell Cardiol       Date:  2020-03-21       Impact factor: 5.000

2.  Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot.

Authors:  Riley J Leonard; Claudia C Preston; Melanie E Gucwa; Yohannes Afeworki; Arielle S Selya; Randolph S Faustino
Journal:  Front Cardiovasc Med       Date:  2020-02-07
  2 in total

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