Literature DB >> 17372140

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.

Homa Tajsharghi1, Anders Oldfors, Dominic P Macleod, Michael Swash.   

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Year:  2007        PMID： 17372140     DOI： 10.1212/01.wnl.0000257131.13438.2c

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  20 in total

1.  Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.

Authors:  Catrin Rutland; Louise Warner; Aaran Thorpe; Aziza Alibhai; Thelma Robinson; Barry Shaw; Robert Layfield; J David Brook; Siobhan Loughna
Journal:  J Anat       Date:  2009-06       Impact factor: 2.610

2.  Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.

Authors:  Martin Dahl-Halvarsson; Montse Olive; Malgorzata Pokrzywa; Katarina Ejeskär; Ruth H Palmer; Anne Elisabeth Uv; Homa Tajsharghi
Journal:  Proc Natl Acad Sci U S A       Date:  2018-06-26       Impact factor: 11.205

3.  A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.

Authors:  Tom Schipper; Mario Van Poucke; Laurien Sonck; Pascale Smets; Richard Ducatelle; Bart J G Broeckx; Luc J Peelman
Journal:  Eur J Hum Genet       Date:  2019-06-04       Impact factor: 4.246

4.  Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

Authors:  Sandra Donkervoort; Carl E Kutzner; Ying Hu; Xavière Lornage; John Rendu; Tanya Stojkovic; Jonathan Baets; Sarah B Neuhaus; Jantima Tanboon; Reza Maroofian; Véronique Bolduc; Magdalena Mroczek; Stefan Conijn; Nancy L Kuntz; Ana Töpf; Soledad Monges; Fabiana Lubieniecki; Riley M McCarty; Katherine R Chao; Serena Governali; Johann Böhm; Kanokwan Boonyapisit; Edoardo Malfatti; Tumtip Sangruchi; Iren Horkayne-Szakaly; Carola Hedberg-Oldfors; Stephanie Efthymiou; Satoru Noguchi; Sarah Djeddi; Aritoshi Iida; Gabriella di Rosa; Chiara Fiorillo; Vincenzo Salpietro; Niklas Darin; Julien Fauré; Henry Houlden; Anders Oldfors; Ichizo Nishino; Willem de Ridder; Volker Straub; Wojciech Pokrzywa; Jocelyn Laporte; A Reghan Foley; Norma B Romero; Coen Ottenheijm; Thorsten Hoppe; Carsten G Bönnemann
Journal:  Am J Hum Genet       Date:  2020-11-19       Impact factor: 11.025

5.  A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Authors:  Nigel F Clarke; Kimberly Amburgey; James Teener; Sandra Camelo-Piragua; Akanchha Kesari; Jaya Punetha; Leigh B Waddell; Mark Davis; Nigel G Laing; Nicole Monnier; Kathryn N North; Eric P Hoffman; James J Dowling
Journal:  Neuromuscul Disord       Date:  2013-03-09       Impact factor: 4.296

6.  Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

Authors:  Meera C Viswanathan; Rick C Tham; William A Kronert; Floyd Sarsoza; Adriana S Trujillo; Anthony Cammarato; Sanford I Bernstein
Journal:  Hum Mol Genet       Date:  2017-12-15       Impact factor: 6.150

Review 7.  Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Authors:  Massimo Buvoli; Micah Hamady; Leslie A Leinwand; Rob Knight
Journal:  Trends Cardiovasc Med       Date:  2008-05       Impact factor: 6.677

8.  Approach to the diagnosis of congenital myopathies.

Authors:  Kathryn N North; Ching H Wang; Nigel Clarke; Heinz Jungbluth; Mariz Vainzof; James J Dowling; Kimberly Amburgey; Susana Quijano-Roy; Alan H Beggs; Caroline Sewry; Nigel G Laing; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2013-11-18       Impact factor: 4.296

9.  Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart.

Authors:  Catrin Sian Rutland; Luis Polo-Parada; Elisabeth Ehler; Aziza Alibhai; Aaran Thorpe; Suganthi Suren; Richard D Emes; Bhakti Patel; Siobhan Loughna
Journal:  Development       Date:  2011-09       Impact factor: 6.868

Review 10.  Myosinopathies: pathology and mechanisms.

Authors:  Homa Tajsharghi; Anders Oldfors
Journal:  Acta Neuropathol       Date:  2012-08-05       Impact factor: 17.088
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