Literature DB >> 15060127

Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy.

H Ohmori1, Y Ando, Y Makita, Y Onouchi, T Nakajima, M J M Saraiva, H Terazaki, O Suhr, G Sobue, M Nakamura, M Yamaizumi, M Munar-Ques, I Inoue, M Uchino, A Hata.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15060127      PMCID： PMC1735751          DOI： 10.1136/jmg.2003.014803

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  11 in total

Review 1.  Transthyretin-related amyloidoses and the heart: a clinical overview.

Authors:  Claudio Rapezzi; Candida Cristina Quarta; Letizia Riva; Simone Longhi; Ilaria Gallelli; Massimiliano Lorenzini; Paolo Ciliberti; Elena Biagini; Fabrizio Salvi; Angelo Branzi
Journal:  Nat Rev Cardiol       Date:  2010-05-18       Impact factor: 32.419

2.  Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese.

Authors:  Toshihito Tanahashi; Dai Osabe; Kyoko Nomura; Shuichi Shinohara; Hitoshi Kato; Eiichiro Ichiishi; Naoto Nakamura; Toshikazu Yoshikawa; Yoichiro Takata; Tatsuro Miyamoto; Hiroshi Shiota; Parvaneh Keshavarz; Yuka Yamaguchi; Kiyoshi Kunika; Maki Moritani; Hiroshi Inoue; Mitsuo Itakura
Journal:  Hum Genet       Date:  2006-09-06       Impact factor: 4.132

3.  A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.

Authors:  Malin Olsson; Nina Norgren; Konen Obayashi; Violaine Plante-Bordeneuve; Ole B Suhr; Kristina Cederquist; Jenni Jonasson
Journal:  BMC Med Genet       Date:  2010-09-14       Impact factor: 2.103

Review 4.  Newer Therapies for Amyloid Cardiomyopathy.

Authors:  Rajshekhar Chakraborty; Eli Muchtar; Morie A Gertz
Journal:  Curr Heart Fail Rep       Date:  2016-10

5.  A New Folding Kinetic Mechanism for Human Transthyretin and the Influence of the Amyloidogenic V30M Mutation.

Authors:  Catarina S H Jesus; Zaida L Almeida; Daniela C Vaz; Tiago Q Faria; Rui M M Brito
Journal:  Int J Mol Sci       Date:  2016-08-31       Impact factor: 5.923

6.  Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan.

Authors:  Hua-Chuan Chao; Yi-Chu Liao; Yo-Tsen Liu; Yuh-Cherng Guo; Fu-Pang Chang; Yi-Chung Lee; Kon-Ping Lin
Journal:  Ann Clin Transl Neurol       Date:  2019-04-09       Impact factor: 4.511

7.  Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.

Authors:  Teodora Chamova; Mariana Gospodinova; Ognian Asenov; Tihomir Todorov; Zornitsa Pavlova; Andrey Kirov; Sylvia Cherninkova; Kristina Kastreva; Ani Taneva; Stanislava Blagoeva; Sashka Zhelyazkova; Plamen Antimov; Kaloian Chobanov; Albena Todorova; Ivailo Tournev
Journal:  Front Neurol       Date:  2022-04-08       Impact factor: 4.003

Review 8.  Guideline of transthyretin-related hereditary amyloidosis for clinicians.

Authors:  Yukio Ando; Teresa Coelho; John L Berk; Márcia Waddington Cruz; Bo-Göran Ericzon; Shu-ichi Ikeda; W David Lewis; Laura Obici; Violaine Planté-Bordeneuve; Claudio Rapezzi; Gerard Said; Fabrizio Salvi
Journal:  Orphanet J Rare Dis       Date:  2013-02-20       Impact factor: 4.123

9.  Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.

Authors:  Hui Chen; Xueya Zhou; Jing Wang; Xi Wang; Liyang Liu; Shinan Wu; Tengyan Li; Si Chen; Jingwen Yang; Pak Chung Sham; Guangming Zhu; Xuegong Zhang; Binbin Wang
Journal:  Sci Rep       Date:  2016-05-23       Impact factor: 4.379

Review 10.  Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

Authors:  Yoshiki Sekijima; Mitsuharu Ueda; Haruki Koike; Sonoko Misawa; Tomonori Ishii; Yukio Ando
Journal:  Orphanet J Rare Dis       Date:  2018-01-17       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.