Associated Papers
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.
Farcy S et al.
Cells, 2023
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
Dehghan Tezerjani M et al.
Frontiers in Pediatrics, 2020
32671003 (PubMed )
Supplement: Table_1.xlsx › Sheet1
A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation.
Chen CT et al.
Current Biology : Cb, 2014
The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.
Colnaghi R et al.
Seminars in Cell & Developmental Biology, 2011
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.
Huang-Doran I et al.
Diabetes, 2011
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
Piane M et al.
American Journal of Medical Genetics. Part A, 2009
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
Griffith E et al.
Nature Genetics, 2008
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