MCPH1 gene

Known as: BRCT-repeat inhibitor of TERT expression 1, microcephalin 1, MICROCEPHALIN 
This gene plays a role in both mitotic checkpoints and brain development.
National Institutes of Health

Papers overview

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2013
2013
Mutations in the MCPH1 (microcephalin 1) gene, located at chromosome 8p23.1, result in two autosomal recessive disorders: primary… (More)
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Highly Cited
2011
Highly Cited
2011
Primary microcephaly 1 is a neurodevelopmental disorder caused by mutations in the MCPH1 gene, whose product MCPH1 (also known as… (More)
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2010
2010
BRIT1 protein (also known as MCPH1) contains 3 BRCT domains which are conserved in BRCA1, BRCA2, and other important molecules… (More)
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Highly Cited
2010
Highly Cited
2010
The genome of mantle cell lymphoma (MCL) is, in addition to the translocation t(11;14), characterized by a high number of… (More)
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Highly Cited
2009
Highly Cited
2009
To detect and repair damaged DNA, DNA-damage-response proteins need to overcome the barrier of condensed chromatin to gain access… (More)
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Highly Cited
2008
Highly Cited
2008
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis… (More)
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Highly Cited
2008
Highly Cited
2008
Microcephalin (MCPH1) has a crucial role in the DNA damage response by promoting the expression of Checkpoint kinase 1 (CHK1) and… (More)
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2007
2007
Microcephalin (MCPH1) is one of the causative genes for the autosomal recessive disorder, primary microcephaly, characterized by… (More)
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Highly Cited
2006
Highly Cited
2006
Ataxia-telangiectasia mutated and Rad3 related (ATR)–Seckel syndrome and autosomal recessive primary microcephaly (MCPH) syndrome… (More)
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Highly Cited
2005
Highly Cited
2005
BRIT1 [BRCT-repeat inhibitor of hTERT expression], a repressor of human telomerase function, is implicated in cellular… (More)
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