Literature DB >> 25985012

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

Masahiro Higashi1, Ken-ichi Hirano2, Kazuhiro Kobayashi3, Yoshihiko Ikeda4, Ami Issiki5, Tetsuo Otsuka6, Akira Suzuki7, Satoshi Yamaguchi7, Nobuhiro Zaima8, Seiki Hamada9, Hironori Hanada10, Chieko Suzuki11, Hiroshi Nakamura12, Hironori Nagasaka13, Toshiyuki Miyata10, Yoshihiro Miyamoto14, Kunihisa Kobayashi15, Hiroaki Naito16, Tatsushi Toda3.   

Abstract

Entities:  

Keywords:  Adipose triglyceride lipase; Cardiac phenotype; Cardiomyopathy; Jordans' anomaly; Neutral lipid storage disease with myopathy; Triglyceride; Triglyceride deposit cardiomyovasculopathy

Mesh：

Substances：

Year:  2015        PMID： 25985012     DOI： 10.1016/j.ijcard.2015.05.004

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  11 in total

1.  Detection of Jordans' anomaly using compact-type automated hematology analyzer.

Authors:  Tohru Inaba; Keita Okumura; Naohisa Fujita; Akira Suzuki; Ken-Ichi Hirano
Journal:  Int J Hematol       Date:  2019-06-10       Impact factor: 2.490

2.  Neutral lipid storage disease with myopathy: A 10-year follow-up case report.

Authors:  Sara Missaglia; Daniela Tavian; Corrado Angelini
Journal:  Eur J Transl Myol       Date:  2022-06-17

3.  Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.

Authors:  D Tavian; S Missaglia; M Castagnetta; D Degiorgio; E M Pennisi; R A Coleman; P Dell'Era; C Mora; C Angelini; D A Coviello
Journal:  Mol Genet Metab       Date:  2017-04-03       Impact factor: 4.797

4.  Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Authors:  Sara Missaglia; Lorenzo Maggi; Marina Mora; Sara Gibertini; Flavia Blasevich; Piergiuseppe Agostoni; Laura Moro; Denise Cassandrini; Filippo Maria Santorelli; Simonetta Gerevini; Daniela Tavian
Journal:  Neuromuscul Disord       Date:  2017-01-17       Impact factor: 4.296

5.  Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder.

Authors:  Ming Li; Ken-Ichi Hirano; Yoshihiko Ikeda; Masahiro Higashi; Chikako Hashimoto; Bo Zhang; Junji Kozawa; Koichiro Sugimura; Hideyuki Miyauchi; Akira Suzuki; Yasuhiro Hara; Atsuko Takagi; Yasuyuki Ikeda; Kazuhiro Kobayashi; Yoshiaki Futsukaichi; Nobuhiro Zaima; Satoshi Yamaguchi; Rojeet Shrestha; Hiroshi Nakamura; Katsuhiro Kawaguchi; Eiryu Sai; Shu-Ping Hui; Yusuke Nakano; Akinori Sawamura; Tohru Inaba; Yasuhiko Sakata; Yoko Yasui; Yasuyuki Nagasawa; Shintaro Kinugawa; Kazunori Shimada; Sohsuke Yamada; Hiroyuki Hao; Daisaku Nakatani; Tomomi Ide; Tetsuya Amano; Hiroaki Naito; Hironori Nagasaka; Kunihisa Kobayashi
Journal:  Orphanet J Rare Dis       Date:  2019-06-11       Impact factor: 4.123

Review 6.  Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.

Authors:  Sara Missaglia; Rosalind A Coleman; Alvaro Mordente; Daniela Tavian
Journal:  Cells       Date:  2019-02-21       Impact factor: 6.600

7.  MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.

Authors:  Valentina Pegoraro; Sara Missaglia; Roberta Marozzo; Daniela Tavian; Corrado Angelini
Journal:  Muscle Nerve       Date:  2019-11-29       Impact factor: 3.217

8.  Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.

Authors:  Maria Barbara Pasanisi; Sara Missaglia; Denise Cassandrini; Franco Salerno; Stefania Farina; Daniele Andreini; Piergiuseppe Agostoni; Lucia Morandi; Marina Mora; Daniela Tavian
Journal:  Int J Cardiol       Date:  2016-01-09       Impact factor: 4.164

9.  Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.

Authors:  Shouyan Zheng; Wei Liao
Journal:  BMC Med Genet       Date:  2018-09-17       Impact factor: 2.103

10.  Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.

Authors:  Wei Zhang; Bing Wen; Jun Lu; Yawen Zhao; Daojun Hong; Zhe Zhao; Cheng Zhang; Yuebei Luo; Xueliang Qi; Yingshuang Zhang; Xueqin Song; Yuying Zhao; Chongbo Zhao; Jing Hu; Huan Yang; Zhaoxia Wang; Chuanzhu Yan; Yun Yuan
Journal:  Orphanet J Rare Dis       Date:  2019-10-26       Impact factor: 4.123
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