Literature DB >> 26138117

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

O Ortega-Recalde1, O I Beltrán2,3, J M Gálvez1, A Palma-Montero1, C M Restrepo1, H E Mateus1, P Laissue1.   

Abstract

We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth.
© 2015 John Wiley | Clinical Exome Genome Reports.

Entities:  

Keywords:  HERC1 mutations; exome sequencing; intellectual disability; overgrowth

Mesh：

Substances：

Year:  2015        PMID： 26138117     DOI： 10.1111/cge.12634

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  13 in total

1.  Unbiased Proteomics of Early Lewy Body Formation Model Implicates Active Microtubule Affinity-Regulating Kinases (MARKs) in Synucleinopathies.

Authors:  Michael X Henderson; Charlotte Hiu-Yan Chung; Dawn M Riddle; Bin Zhang; Ronald J Gathagan; Steven H Seeholzer; John Q Trojanowski; Virginia M Y Lee
Journal:  J Neurosci       Date:  2017-05-18       Impact factor: 6.167

Review 2.  A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

Authors:  Benjamin Kamien; Anne Ronan; Gemma Poke; Ingrid Sinnerbrink; Gareth Baynam; Michelle Ward; William T Gibson; Tracy Dudding-Byth; Rodney J Scott
Journal:  Mol Syndromol       Date:  2018-01-25

3.  Mutation of the HERC 1 Ubiquitin Ligase Impairs Associative Learning in the Lateral Amygdala.

Authors:  Eva Mª Pérez-Villegas; José V Negrete-Díaz; Mª Elena Porras-García; Rocío Ruiz; Angel M Carrión; Antonio Rodríguez-Moreno; José A Armengol
Journal:  Mol Neurobiol       Date:  2017-01-19       Impact factor: 5.590

4.  Identification of a quality-control factor that monitors failures during proteasome assembly.

Authors:  Eszter Zavodszky; Sew-Yeu Peak-Chew; Szymon Juszkiewicz; Ana J Narvaez; Ramanujan S Hegde
Journal:  Science       Date:  2021-08-27       Impact factor: 47.728

Review 5.  Functional and pathological relevance of HERC family proteins: a decade later.

Authors:  Susana Sánchez-Tena; Monica Cubillos-Rojas; Taiane Schneider; Jose Luis Rosa
Journal:  Cell Mol Life Sci       Date:  2016-01-22       Impact factor: 9.261

6.  HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System.

Authors:  Sara Bachiller; María Angustias Roca-Ceballos; Irene García-Domínguez; Eva María Pérez-Villegas; David Martos-Carmona; Miguel Ángel Pérez-Castro; Luis Miguel Real; José Luis Rosa; Lucía Tabares; José Luis Venero; José Ángel Armengol; Ángel Manuel Carrión; Rocío Ruiz
Journal:  Mol Neurobiol       Date:  2018-03-30       Impact factor: 5.590

Review 7.  HERCing: Structural and Functional Relevance of the Large HERC Ubiquitin Ligases.

Authors:  Jesús García-Cano; Arturo Martinez-Martinez; Joan Sala-Gaston; Leonardo Pedrazza; Jose Luis Rosa
Journal:  Front Physiol       Date:  2019-08-07       Impact factor: 4.566

8.  A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Authors:  Else Eising; Amaia Carrion-Castillo; Arianna Vino; Edythe A Strand; Kathy J Jakielski; Thomas S Scerri; Michael S Hildebrand; Richard Webster; Alan Ma; Bernard Mazoyer; Clyde Francks; Melanie Bahlo; Ingrid E Scheffer; Angela T Morgan; Lawrence D Shriberg; Simon E Fisher
Journal:  Mol Psychiatry       Date:  2018-02-20       Impact factor: 15.992

9.  The HERC1 ubiquitin ligase regulates presynaptic membrane dynamics of central synapses.

Authors:  Mª Angeles Montes-Fernández; Eva Mª Pérez-Villegas; Francesc R Garcia-Gonzalo; Leonardo Pedrazza; Jose Luis Rosa; Guillermo Alvarez de Toledo; José A Armengol
Journal:  Sci Rep       Date:  2020-07-21       Impact factor: 4.379

10.  The E3 ubiquitin ligase HERC1 controls the ERK signaling pathway targeting C-RAF for degradation.

Authors:  Taiane Schneider; Arturo Martinez-Martinez; Monica Cubillos-Rojas; Ramon Bartrons; Francesc Ventura; Jose Luis Rosa
Journal:  Oncotarget       Date:  2018-07-31
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