Literature DB >> 23328402

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.

Dana Šafka Brozková, Petra Laššuthová, Jana Neupauerová, Marcela Krůtová, Jana Haberlová, David Stejskal, Pavel Seeman.   

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Year:  2013        PMID： 23328402     DOI： 10.1093/brain/aws333

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  4 in total

Review 1.  Fibulin-4 and fibulin-5 in elastogenesis and beyond: Insights from mouse and human studies.

Authors:  Christina L Papke; Hiromi Yanagisawa
Journal:  Matrix Biol       Date:  2014-03-06       Impact factor: 11.583

2.  De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation.

Authors:  Biswajit Padhy; Ramani Shyam Kapuganti; Bushra Hayat; Pranjya Paramita Mohanty; Debasmita Pankaj Alone
Journal:  Eur J Hum Genet       Date:  2019-07-29       Impact factor: 4.246

3.  Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.

Authors:  Si Cheng; He Lv; Wei Zhang; Zhaoxia Wang; Xin Shi; Wei Liang; Yun Yuan
Journal:  Clin Neuropathol       Date:  2017 Jul/Aug       Impact factor: 1.368

4.  Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.

Authors:  So Yeon Won; Soojin Kwon; Hui Su Jeong; Ki Wha Chung; Byung-Ok Choi; Jong Wook Chang; Ji Eun Lee
Journal:  Stem Cells       Date:  2020-10-27       Impact factor: 6.277
  4 in total

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