Associated Papers
Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.
Luo S et al.
Heliyon, 2024
BRIT1 dysfunction confers synergistic inhibition of hepatocellular carcinoma by targeting poly (ADP-ribose) polymerases and PI3K.
Liang Y et al.
American Journal of Cancer Research, 2020
The DNA damage response molecule MCPH1 in brain development and beyond.
Liu X et al.
Acta Biochimica Et Biophysica Sinica, 2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Chromosome structure deficiencies in MCPH1 syndrome.
Arroyo M et al.
Chromosoma, 2015
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
Ghani-Kakhki M et al.
Molecular Syndromology, 2012
MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.
Yamashita D et al.
The Journal of Cell Biology, 2011
MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest.
Gavvovidis I et al.
Cell Cycle (georgetown, Tex.), 2010
MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage.
Wood JL et al.
The Journal of Biological Chemistry, 2007
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