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
Mitotic entry upon Topo II catalytic inhibition is controlled by Chk1 and Plk1.
Arroyo M et al.
The Febs Journal, 2020
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
MCPH1 is essential for cellular adaptation to the G2-phase decatenation checkpoint.
Arroyo M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
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
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Naveed M et al.
Genetics Research, 2018
MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis.
Arroyo M et al.
Scientific Reports, 2017
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
Chromosome structure deficiencies in MCPH1 syndrome.
Arroyo M et al.
Chromosoma, 2015
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
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
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.
Farooq M et al.
American Journal of Medical Genetics. Part A, 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
What primary microcephaly can tell us about brain growth.
Cox J et al.
Trends in Molecular Medicine, 2006
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.
Alderton GK et al.
Nature Cell Biology, 2006
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi M et al.
Human Genetics, 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
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
Kumar A et al.
Clinical Genetics, 2004
Identification of microcephalin, a protein implicated in determining the size of the human brain.
Jackson AP et al.
American Journal of Human Genetics, 2002