Literature DB >> 24780602

Autosomal recessive primary microcephalies (MCPH).

Angela M Kaindl1.   

Abstract

Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous disease characterized by a pronounced reduction in volume of otherwise architectonical normal brains and intellectual deficit. Here, we summarize the genetic causes of MCPH types 1-12 known to date.
Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  ASPM; CASC5; CDK5RAP2; CDK6; CENPJ; CEP135; CEP152; Intellectual disability; MCPH; MCPH1; Microcephaly; PHC1; STIL; WDR62; ZNF335

Mesh：

Substances：

Year:  2014        PMID： 24780602     DOI： 10.1016/j.ejpn.2014.03.010

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


  8 in total

1.  A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

Authors:  Muhammad Farooq; Ambrin Fatima; Yuan Mang; Lars Hansen; Klaus Wilbrandt Kjaer; Shahid Mahmood Baig; Lars Allan Larsen; Niels Tommerup
Journal:  J Hum Genet       Date:  2015-12-10       Impact factor: 3.172

Review 2.  Development of the cerebral cortex and the effect of the intrauterine environment.

Authors:  Sebastian Quezada; Margie Castillo-Melendez; David W Walker; Mary Tolcos
Journal:  J Physiol       Date:  2018-11-02       Impact factor: 5.182

Review 3.  Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.

Authors:  Lavinia C Dumitrache; Peter J McKinnon
Journal:  Mech Ageing Dev       Date:  2016-04-26       Impact factor: 5.432

4.  The E3 ubiquitin ligase APC/CCdh1 degrades MCPH1 after MCPH1-βTrCP2-Cdc25A-mediated mitotic entry to ensure neurogenesis.

Authors:  Xiaoqian Liu; Wen Zong; Tangliang Li; Yujun Wang; Xingzhi Xu; Zhong-Wei Zhou; Zhao-Qi Wang
Journal:  EMBO J       Date:  2017-11-17       Impact factor: 11.598

Review 5.  MCPH1: a window into brain development and evolution.

Authors:  Jeremy N Pulvers; Nathalie Journiac; Yoko Arai; Jeannette Nardelli
Journal:  Front Cell Neurosci       Date:  2015-03-27       Impact factor: 5.505

6.  Severe congenital microcephaly with AP4M1 mutation, a case report.

Authors:  Sarah Duerinckx; Helene Verhelst; Camille Perazzolo; Philippe David; Laurence Desmyter; Isabelle Pirson; Marc Abramowicz
Journal:  BMC Med Genet       Date:  2017-05-02       Impact factor: 2.103

7.  The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.

Authors:  Xiaoqian Liu; Nadine Schneble-Löhnert; Martina Kristofova; Xiaobing Qing; Jan Labisch; Susanne Hofmann; Sandra Ehrenberg; Mara Sannai; Tjard Jörß; Alessandro Ori; Maren Godmann; Zhao-Qi Wang
Journal:  Cell Death Dis       Date:  2021-02-01       Impact factor: 8.469

8.  ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Authors:  Rotem Kadir; Tamar Harel; Barak Markus; Yonatan Perez; Anna Bakhrat; Idan Cohen; Michael Volodarsky; Miora Feintsein-Linial; Elana Chervinski; Joel Zlotogora; Sara Sivan; Ramon Y Birnbaum; Uri Abdu; Stavit Shalev; Ohad S Birk
Journal:  PLoS Genet       Date:  2016-03-23       Impact factor: 5.917
  8 in total

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