Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.S25*
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MCPH1

NM_024596.5:p.S25*

Associated Papers

Multifaceted Microcephaly-Related Gene MCPH1.

Kristofova M et al.

Cells, 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

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

27219052 (PubMed )
Supplement: pone.0155552.s003.pdf

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

Cancer predisposing mutations in BRCT domains.

di Masi A et al.

Iubmb Life, 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

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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."