Literature DB >> 8401531

Alternative splicing in the fragile X gene FMR1.

A J Verkerk, E de Graaff, K De Boulle, E E Eichler, D S Konecki, E Reyniers, A Manca, A Poustka, P J Willems, D L Nelson.   

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Year:  1993        PMID： 8401531     DOI： 10.1093/hmg/2.8.1348

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  7 in total

1.  Differential increases of specific FMR1 mRNA isoforms in premutation carriers.

Authors:  Dalyir I Pretto; John S Eid; Carolyn M Yrigollen; Hiu-Tung Tang; Erick W Loomis; Chris Raske; Blythe Durbin-Johnson; Paul J Hagerman; Flora Tassone
Journal:  J Med Genet       Date:  2014-10-30       Impact factor: 6.318

2.  Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome.

Authors:  Yuan Zhang; M Rebecca Glineburg; Venkatesha Basrur; Kevin Conlon; Shannon E Wright; Amy Krans; Deborah A Hall; Peter K Todd
Journal:  Hum Mol Genet       Date:  2022-07-21       Impact factor: 5.121

Review 3.  The RNA-binding fragile-X mental retardation protein and its role beyond the brain.

Authors:  Cassandra Malecki; Brett D Hambly; Richmond W Jeremy; Elizabeth N Robertson
Journal:  Biophys Rev       Date:  2020-07-11

Review 4.  Fragile X and APP: a Decade in Review, a Vision for the Future.

Authors:  Cara J Westmark
Journal:  Mol Neurobiol       Date:  2018-09-17       Impact factor: 5.590

5.  FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS).

Authors:  Marwa Zafarullah; Hiu-Tung Tang; Blythe Durbin-Johnson; Emily Fourie; David Hessl; Susan M Rivera; Flora Tassone
Journal:  Sci Rep       Date:  2020-07-06       Impact factor: 4.379

Review 6.  DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.

Authors:  Veronica Nobile; Cecilia Pucci; Pietro Chiurazzi; Giovanni Neri; Elisabetta Tabolacci
Journal:  Biomolecules       Date:  2021-02-16

7.  Biophysical characterization of G-quadruplex forming FMR1 mRNA and of its interactions with different fragile X mental retardation protein isoforms.

Authors:  Anna C Blice-Baum; Mihaela-Rita Mihailescu
Journal:  RNA       Date:  2013-11-18       Impact factor: 4.942
  7 in total

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