Publications:

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MCPH1: A Novel Case Report and a Review of the Literature.

Genes

Caraffi, Stefano Giuseppe SG; Pollazzon, Marzia M; Farooq, Muhammad M; Fatima, Ambrin A; Larsen, Lars Allan LA; Zuntini, Roberta R; Napoli, Manuela M; Garavelli, Livia L

Publication Date: 2022-04-02

Variant appearance in text: MCPH1: 80C>G

PubMed Link: 35456440

Variant Present in the following documents:

• Main text
• genes-13-00634.pdf

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BRIT1 dysfunction confers synergistic inhibition of hepatocellular carcinoma by targeting poly (ADP-ribose) polymerases and PI3K.

American Journal Of Cancer Research

Liang, Yulong Y; Yu, Lihou L; Zhang, Dongxiao D; Zhao, Xuemei X; Gao, Hong H; Slagle, Betty L BL; Goss, John A JA; Wang, Xiaosong X; Li, Kaiyi K; Lin, Shiaw-Yih SY

Publication Date: 2020

Variant appearance in text: BRIT1: Thr27Arg

PubMed Link: 32642299

Variant Present in the following documents:

• Main text

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Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Al Eissa, Mariam M MM; Sharp, Sally I SI; O'Brien, Niamh L NL; Fiorentino, Alessia A; Bass, Nicholas J NJ; Curtis, David D; McQuillin, Andrew A

Publication Date: 2019-06

Variant appearance in text: MCPH1: Thr27Arg; rs199422124

PubMed Link: 30859703

Variant Present in the following documents:

• Main text

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Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Plos One

Fujikura, Kohei K

Publication Date: 2016

Variant appearance in text: rs199422124

PubMed Link: 27219052

Variant Present in the following documents:

• pone.0155552.s003.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MCPH1: T27R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MCPH1: T27R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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MCPH1: a window into brain development and evolution.

Frontiers In Cellular Neuroscience

Pulvers, Jeremy N JN; Journiac, Nathalie N; Arai, Yoko Y; Nardelli, Jeannette J

Publication Date: 2015

Variant appearance in text: MCPH1: 80C>G

PubMed Link: 25870538

Variant Present in the following documents:

• Main text
• fncel-09-00092.pdf

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Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Molecular Syndromology

Ghani-Kakhki, M M; Robinson, P N PN; Morlot, S S; Mitter, D D; Trimborn, M M; Albrecht, B B; Varon, R R; Sperling, K K; Neitzel, H H

Publication Date: 2012-06

Variant appearance in text: MCPH1: 80C>G; Thr27Arg

PubMed Link: 22855649

Variant Present in the following documents:

• Main text

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MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.

The Journal Of Cell Biology

Yamashita, Daisuke D; Shintomi, Keishi K; Ono, Takao T; Gavvovidis, Ioannis I; Schindler, Detlev D; Neitzel, Heidemarie H; Trimborn, Marc M; Hirano, Tatsuya T

Publication Date: 2011-09-19

Variant appearance in text: MCPH1: T27R

PubMed Link: 21911480

Variant Present in the following documents:

• Main text
• JCB_201106141.pdf

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SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

The Journal Of Biological Chemistry

Leung, Justin W JW; Leitch, Andrea A; Wood, Jamie L JL; Shaw-Smith, Charles C; Metcalfe, Kay K; Bicknell, Louise S LS; Jackson, Andrew P AP; Chen, Junjie J

Publication Date: 2011-06-17

Variant appearance in text: MCPH1: T27R

PubMed Link: 21515671

Variant Present in the following documents:

• Main text

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MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest.

Cell Cycle (Georgetown, Tex.)

Gavvovidis, Ioannis I; Pöhlmann, Charlotte C; Marchal, Juan Alberto JA; Stumm, Markus M; Yamashita, Daisuke D; Hirano, Tatsuya T; Schindler, Detlev D; Neitzel, Heidemarie H; Trimborn, Marc M

Publication Date: 2010-12-15

Variant appearance in text: MCPH1: 80C>G

PubMed Link: 21150325

Variant Present in the following documents:

• Main text

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Microcephalin/MCPH1 associates with the Condensin II complex to function in homologous recombination repair.

The Journal Of Biological Chemistry

Wood, Jamie L JL; Liang, Yulong Y; Li, Kaiyi K; Chen, Junjie J

Publication Date: 2008-10-24

Variant appearance in text: MCPH1: T27R

PubMed Link: 18718915

Variant Present in the following documents:

• Main text

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MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage.

The Journal Of Biological Chemistry

Wood, Jamie L JL; Singh, Namit N; Mer, Georges G; Chen, Junjie J

Publication Date: 2007-11-30

Variant appearance in text: MCPH1: T27R

PubMed Link: 17925396

Variant Present in the following documents:

• Main text

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