Literature DB >> 24556440

Microcephaly: STIL(l) a tale of too many centrosomes.

Véronique Marthiens1, Renata Basto2.   

Abstract

Centrosome mutations associated with microcephaly are normally thought to result in loss-of-function phenotypes. A new study shows, however, that mutations found in the human microcephaly STIL gene cause centrosome amplification, suggesting a direct link between the presence of extra centrosomes and the establishment of this disease.
Copyright © 2014 Elsevier Ltd. All rights reserved.

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Year:  2014        PMID: 24556440     DOI: 10.1016/j.cub.2013.12.054

Source DB:  PubMed          Journal:  Curr Biol        ISSN: 0960-9822            Impact factor:   10.834


  2 in total

1.  STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Authors:  Naseebullah Kakar; Jamil Ahmad; Deborah J Morris-Rosendahl; Janine Altmüller; Katrin Friedrich; Gotthold Barbi; Peter Nürnberg; Christian Kubisch; William B Dobyns; Guntram Borck
Journal:  Hum Genet       Date:  2014-09-14       Impact factor: 4.132

2.  Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Authors:  Laura V Vandervore; Rachel Schot; Esmee Kasteleijn; Renske Oegema; Katrien Stouffs; Alexander Gheldof; Martyna M Grochowska; Marianne L T van der Sterre; Leontine M A van Unen; Martina Wilke; Peter Elfferich; Peter J van der Spek; Daphne Heijsman; Anna Grandone; Jeroen A A Demmers; Dick H W Dekkers; Johan A Slotman; Gert-Jan Kremers; Gerben J Schaaf; Roy G Masius; Anton J van Essen; Patrick Rump; Arie van Haeringen; Els Peeters; Umut Altunoglu; Tugba Kalayci; Raymond A Poot; William B Dobyns; Nadia Bahi-Buisson; Frans W Verheijen; Anna C Jansen; Grazia M S Mancini
Journal:  Brain       Date:  2019-04-01       Impact factor: 13.501

  2 in total

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