Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

@article{Mirzaa2014MutationsIC,
  title={Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism},
  author={Ghayda M Mirzaa and Benjamin Vitre and Gillian Carpenter and Iga Abramowicz and Joseph G Gleeson and Alex R. Paciorkowski and Don W Cleveland and William B Dobyns and M. F. O’Driscoll},
  journal={Human Genetics},
  year={2014},
  volume={133},
  pages={1023-1039}
}
Defects in centrosome, centrosomal-associated and spindle-associated proteins are the most frequent cause of primary microcephaly (PM) and microcephalic primordial dwarfism (MPD) syndromes in humans. Mitotic progression and segregation defects, microtubule spindle abnormalities and impaired DNA damage-induced G2-M cell cycle checkpoint proficiency have been documented in cell lines from these patients. This suggests that impaired mitotic entry, progression and exit strongly contribute to PM and… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 1 time. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 20 extracted citations

The Genetics of Primary Microcephaly.

Annual review of genomics and human genetics • 2018
View 5 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 78 references

Primary autoso

Cr Jamieson, C Govaerts, MJ abramowicz
1999
View 4 Excerpts
Highly Influenced

Genomic analysis of primordial dwarfism reveals novel disease genes

shamseldin He, M elfaki, alkuraya Fs
Genome res • 2014

aP (2014) extreme growth failure is a common presentation of ligase Iv deficiency

B Wollnik, Jackson
Hum Mutat 35:76–85 • 2014

al-Hassnan Zn, alshidi t, alomar r, sogaty s, alkuraya Fs (2014) Genomic analysis of primordial dwarfism reveals novel disease genes

shaheen r, Faqeih e, ansari s, G abdel-salam
Genome res • 2014

Similar Papers

Loading similar papers…