Literature DB >> 19608032

Phenotypic heterogeneity of sarcomeric gene mutations: a matter of gain and loss?

Luisa Mestroni.   

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Year:  2009        PMID: 19608032      PMCID: PMC2756576          DOI: 10.1016/j.jacc.2009.04.029

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN: 0735-1097            Impact factor:   24.094


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  14 in total

1.  Titin mutations as the molecular basis for dilated cardiomyopathy.

Authors:  Manatsu Itoh-Satoh; Takeharu Hayashi; Hirofumi Nishi; Yoshinori Koga; Takuro Arimura; Takeshi Koyanagi; Megumi Takahashi; Shigeru Hohda; Kazuo Ueda; Tatsuhito Nouchi; Michiaki Hiroe; Fumiaki Marumo; Tsutomu Imaizumi; Michio Yasunami; Akinori Kimura
Journal:  Biochem Biophys Res Commun       Date:  2002-02-22       Impact factor: 3.575

2.  Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.

Authors:  Mahmooda Mirza; Steven Marston; Ruth Willott; Christopher Ashley; Jens Mogensen; William McKenna; Paul Robinson; Charles Redwood; Hugh Watkins
Journal:  J Biol Chem       Date:  2005-05-27       Impact factor: 5.157

3.  Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.

Authors:  Brenda Gerull; Michael Gramlich; John Atherton; Mark McNabb; Karoly Trombitás; Sabine Sasse-Klaassen; J G Seidman; Christine Seidman; Henk Granzier; Siegfried Labeit; Michael Frenneaux; Ludwig Thierfelder
Journal:  Nat Genet       Date:  2002-01-14       Impact factor: 38.330

4.  Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

Authors:  Edward P Debold; J P Schmitt; J B Patlak; S E Beck; J R Moore; J G Seidman; C Seidman; D M Warshaw
Journal:  Am J Physiol Heart Circ Physiol       Date:  2007-03-09       Impact factor: 4.733

5.  Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.

Authors:  Takuro Arimura; J Martijn Bos; Akinori Sato; Toru Kubo; Hiroshi Okamoto; Hirofumi Nishi; Haruhito Harada; Yoshinori Koga; Mousumi Moulik; Yoshinori L Doi; Jeffrey A Towbin; Michael J Ackerman; Akinori Kimura
Journal:  J Am Coll Cardiol       Date:  2009-07-21       Impact factor: 24.094

6.  ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene.

Authors:  Mousumi Moulik; Matteo Vatta; Stephanie H Witt; Anita M Arola; Ross T Murphy; William J McKenna; Aladin M Boriek; Kazuhiro Oka; Siegfried Labeit; Neil E Bowles; Takuro Arimura; Akinori Kimura; Jeffrey A Towbin
Journal:  J Am Coll Cardiol       Date:  2009-07-21       Impact factor: 24.094

7.  Cardiac ankyrin repeat protein, a negative regulator of cardiac gene expression, is augmented in human heart failure.

Authors:  Oliver Zolk; Marcus Frohme; Alexander Maurer; Franz-Werner Kluxen; Bernd Hentsch; Dimitri Zubakov; Jörg D Hoheisel; Irving H Zucker; Salvatore Pepe; Thomas Eschenhagen
Journal:  Biochem Biophys Res Commun       Date:  2002-05-24       Impact factor: 3.575

8.  Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity.

Authors:  Sudarsan Rajan; Rafeeq P H Ahmed; Ganapathy Jagatheesan; Natalia Petrashevskaya; Greg P Boivin; Dalia Urboniene; Grace M Arteaga; Beata M Wolska; R John Solaro; Stephen B Liggett; David F Wieczorek
Journal:  Circ Res       Date:  2007-06-07       Impact factor: 17.367

9.  Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

Authors:  Yuji Matsumoto; Takeharu Hayashi; Natsuko Inagaki; Megumi Takahashi; Shitoshi Hiroi; Takeyuki Nakamura; Takuro Arimura; Kazufumi Nakamura; Naoto Ashizawa; Michio Yasunami; Toru Ohe; Katsusuke Yano; Akinori Kimura
Journal:  J Muscle Res Cell Motil       Date:  2005       Impact factor: 2.698

10.  Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Authors:  Vamsi K Mootha; Pierre Lepage; Kathleen Miller; Jakob Bunkenborg; Michael Reich; Majbrit Hjerrild; Terrye Delmonte; Amelie Villeneuve; Robert Sladek; Fenghao Xu; Grant A Mitchell; Charles Morin; Matthias Mann; Thomas J Hudson; Brian Robinson; John D Rioux; Eric S Lander
Journal:  Proc Natl Acad Sci U S A       Date:  2003-01-14       Impact factor: 11.205

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  4 in total

1.  GENETIC CAUSES OF DILATED CARDIOMYOPATHY.

Authors:  Luisa Mestroni; Francesca Brun; Anita Spezzacatene; Gianfranco Sinagra; Matthew Rg Taylor
Journal:  Prog Pediatr Cardiol       Date:  2014-12

Review 2.  Understanding the molecular basis of cardiomyopathy.

Authors:  Marie-Louise Bang; Julius Bogomolovas; Ju Chen
Journal:  Am J Physiol Heart Circ Physiol       Date:  2021-11-19       Impact factor: 5.125

3.  FHOD formin and SRF promote post-embryonic striated muscle growth through separate pathways in C. elegans.

Authors:  Curtis V Yingling; David Pruyne
Journal:  Exp Cell Res       Date:  2020-11-20       Impact factor: 3.905

4.  Cytosolic CARP promotes angiotensin II- or pressure overload-induced cardiomyocyte hypertrophy through calcineurin accumulation.

Authors:  Ci Chen; Liang Shen; Shiping Cao; Xixian Li; Wanling Xuan; Jingwen Zhang; Xiaobo Huang; Jianping Bin; Dingli Xu; Guofeng Li; Masafumi Kitakaze; Yulin Liao
Journal:  PLoS One       Date:  2014-08-04       Impact factor: 3.240

  4 in total

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