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
Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Vezain M et al.
Acta Neuropathologica Communications, 2018
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Naveed M et al.
Genetics Research, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
McSherry M et al.
Plos One, 2018
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
Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.
Venkatesh T et al.
Plos One, 2013
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
A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.
Gavvovidis I et al.
Plos One, 2012
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
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 and pericentrin regulate mitotic entry via centrosome-associated Chk1.
Tibelius A et al.
The Journal of Cell Biology, 2009
Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair.
Wood JL et al.
The Journal of Biological Chemistry, 2008
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