Literature DB >> 30354303

ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy.

Nosheen Reza1, Ankit Garg2, Shana L Merrill1, Jessica L Chowns1, Sriram Rao3, Anjali Tiku Owens1.   

Abstract

Entities:  

Keywords:  actin; cardiomyopathies; family; gene; genetic testing; mutation; tachycardia, ventricular

Mesh：

Substances：

Year:  2018        PMID： 30354303      PMCID： PMC6208136          DOI： 10.1161/CIRCGEN.118.002243

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  5 in total

1.  UCSF Chimera--a visualization system for exploratory research and analysis.

Authors:  Eric F Pettersen; Thomas D Goddard; Conrad C Huang; Gregory S Couch; Daniel M Greenblatt; Elaine C Meng; Thomas E Ferrin
Journal:  J Comput Chem       Date:  2004-10       Impact factor: 3.376

2.  Nemaline myopathy with dilated cardiomyopathy in childhood.

Authors:  Ryohei Gatayama; Kentaro Ueno; Hideaki Nakamura; Sadamitsu Yanagi; Hideaki Ueda; Hiroyuki Yamagishi; Seiyo Yasui
Journal:  Pediatrics       Date:  2013-05-06       Impact factor: 7.124

3.  Proteomics. Tissue-based map of the human proteome.

Authors:  Mathias Uhlén; Linn Fagerberg; Björn M Hallström; Cecilia Lindskog; Per Oksvold; Adil Mardinoglu; Åsa Sivertsson; Caroline Kampf; Evelina Sjöstedt; Anna Asplund; IngMarie Olsson; Karolina Edlund; Emma Lundberg; Sanjay Navani; Cristina Al-Khalili Szigyarto; Jacob Odeberg; Dijana Djureinovic; Jenny Ottosson Takanen; Sophia Hober; Tove Alm; Per-Henrik Edqvist; Holger Berling; Hanna Tegel; Jan Mulder; Johan Rockberg; Peter Nilsson; Jochen M Schwenk; Marica Hamsten; Kalle von Feilitzen; Mattias Forsberg; Lukas Persson; Fredric Johansson; Martin Zwahlen; Gunnar von Heijne; Jens Nielsen; Fredrik Pontén
Journal:  Science       Date:  2015-01-23       Impact factor: 47.728

4.  LOVD v.2.0: the next generation in gene variant databases.

Authors:  Ivo F A C Fokkema; Peter E M Taschner; Gerard C P Schaafsma; J Celli; Jeroen F J Laros; Johan T den Dunnen
Journal:  Hum Mutat       Date:  2011-02-22       Impact factor: 4.878

Review 5.  Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Authors:  John C Sparrow; Kristen J Nowak; Hayley J Durling; Alan H Beggs; Carina Wallgren-Pettersson; Norma Romero; Ikuya Nonaka; Nigel G Laing
Journal:  Neuromuscul Disord       Date:  2003-09       Impact factor: 4.296
  5 in total
  5 in total

1.  Identification of key candidate genes and pathways revealing the protective effect of liraglutide on diabetic cardiac muscle by integrated bioinformatics analysis.

Authors:  Ying Dong; Shi Yan; Guo-Yan Li; Min-Nan Wang; Lei Leng; Qiang Li
Journal:  Ann Transl Med       Date:  2020-03

2.  A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.

Authors:  Ayumi Matsumoto; Hidetoshi Tsuda; Sadahiro Furui; Masako Kawada-Nagashima; Tatsuya Anzai; Mitsuru Seki; Kazuhisa Watanabe; Kazuhiro Muramatsu; Hitoshi Osaka; Sadahiko Iwamoto; Ichizo Nishino; Takanori Yamagata
Journal:  Mol Genet Genomic Med       Date:  2022-06-27       Impact factor: 2.473

Review 3.  Sarcomere maturation: function acquisition, molecular mechanism, and interplay with other organelles.

Authors:  Razan E Ahmed; Takeshi Tokuyama; Tatsuya Anzai; Nawin Chanthra; Hideki Uosaki
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2022-10-03       Impact factor: 6.671

4.  TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.

Authors:  Nariaki Miyao; Yukiko Hata; Hironori Izumi; Ryo Nagaoka; Yuko Oku; Ichiro Takasaki; Taisuke Ishikawa; Shinya Takarada; Mako Okabe; Hideyuki Nakaoka; Keijiro Ibuki; Sayaka Ozawa; Tomoyuki Yoshida; Hideyuki Hasegawa; Naomasa Makita; Naoki Nishida; Hisashi Mori; Fukiko Ichida; Keiichi Hirono
Journal:  PLoS One       Date:  2020-04-01       Impact factor: 3.240

Review 5.  Actin Mutations and Their Role in Disease.

Authors:  Francine Parker; Thomas G Baboolal; Michelle Peckham
Journal:  Int J Mol Sci       Date:  2020-05-10       Impact factor: 6.208
  5 in total

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