Associated Papers
Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.
Luo S et al.
Heliyon, 2024
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG et al.
Genes, 2022
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
Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia.
Al Eissa MM et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
The Impact of rs3762271 and rs930557 Polymorphisms of ASPM and MCPH1 Genes on the Anatomy and Function of the Brain.
Pierzak-Sominka J et al.
Biological Research for Nursing, 2016
The DNA damage response molecule MCPH1 in brain development and beyond.
Liu X et al.
Acta Biochimica Et Biophysica Sinica, 2016
Emerging roles of MCPH1: expedition from primary microcephaly to cancer.
Venkatesh T et al.
European Journal of Cell Biology, 2014
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
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.
Leung JW et al.
The Journal of Biological Chemistry, 2011
MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest.
Gavvovidis I et al.
Cell Cycle (georgetown, Tex.), 2010
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.
Scala I et al.
American Journal of Medical Genetics. Part A, 2010
Many roads lead to primary autosomal recessive microcephaly.
Kaindl AM et al.
Progress in Neurobiology, 2010
A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation.
Richards MW et al.
Journal of Molecular Biology, 2010
Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair.
Wood JL et al.
The Journal of Biological Chemistry, 2008
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
What primary microcephaly can tell us about brain growth.
Cox J et al.
Trends in Molecular Medicine, 2006
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.
Trimborn M et al.
Human Mutation, 2005