Literature DB >> 31970217

Expanding the Phenotype of Dystonia-Deafness Syndrome Caused by ACTB Gene Mutation.

Julian Letícia Freitas1, Thiago Cardoso Vale2, Orlando G P Barsottini1, José Luiz Pedroso1.   

Abstract

Entities:  

Year:  2019        PMID： 31970217      PMCID： PMC6962673          DOI： 10.1002/mdc3.12854

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  5 in total

1.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

2.  Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.

Authors:  Nikolas Hundt; Matthias Preller; Olga Swolski; Angella M Ang; Hans G Mannherz; Dietmar J Manstein; Mirco Müller
Journal:  FEBS J       Date:  2014-10-13       Impact factor: 5.542

3.  Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

Authors:  M Baraitser; R M Winter
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

4.  The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Authors:  Maja Kojovic; Isabel Pareés; Tania Lampreia; Karolina Pienczk-Reclawowicz; Georgia Xiromerisiou; Ignacio Rubio-Agusti; Milica Kramberger; Miryam Carecchio; Anas M Alazami; Francesco Brancati; Jaroslaw Slawek; Zvezdan Pirtosek; Enza Maria Valente; Fowzan S Alkuraya; Mark J Edwards; Kailash P Bhatia
Journal:  Mov Disord       Date:  2013-02-15       Impact factor: 10.338

5.  Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

Authors:  Inger Marie Skogseid; Oddveig Røsby; Ane Konglund; James P Connelly; Bård Nedregaard; Greg Eigner Jablonski; Nadja Kvernmo; Asbjørg Stray-Pedersen; Joel C Glover
Journal:  J Neurodev Disord       Date:  2018-05-22       Impact factor: 4.025
  5 in total
  2 in total

1.  Dystonia-Deafness Syndrome: ACTB Pathogenic Variant in an Argentinean Family.

Authors:  Lucía Zavala; Gabriela Ziegler; Dolores González Morón; Nélida Garretto
Journal:  Mov Disord Clin Pract       Date:  2021-11-14

2.  Construction of circRNA-miRNA-mRNA network in the pathogenesis of recurrent implantation failure using integrated bioinformatics study.

Authors:  Mohsen Ahmadi; Salar Pashangzadeh; Mahta Moraghebi; Soudabeh Sabetian; Mohammad Shekari; Fatemeh Eini; Ensieh Salehi; Pegah Mousavi
Journal:  J Cell Mol Med       Date:  2021-05-07       Impact factor: 5.310
  2 in total

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