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Select item 90320341.

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

Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli

Genes (Basel) 2022 Apr; 13(4): 634. Published online 2022 Apr 2. doi: 10.3390/genes13040634

PMCID:: PMC9032034

Abstract Article PDF–3.3M

Select item 89131372.

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

Niaz Muhammad Khan, Muhammad Shareef Masoud, Shahid Mahmood Baig, Muhammad Qasim, Junlei Chang

Biomed Res Int. 2022; 2022: 3769948. Published online 2022 Mar 3. doi: 10.1155/2022/3769948

PMCID:: PMC8913137

Abstract Article PDF–782K

Select item 88421653.

CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system

Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar

Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629

PMCID:: PMC8842165

Abstract Article PDF–3.0M

Select item 85803584.

MCPH1, beyond its role deciding the brain size

Martina Kristofova, Zhao-Qi Wang

Aging (Albany NY) 2021 Oct 31; 13(20): 23437–23439. Published online 2021 Oct 27. doi: 10.18632/aging.203658

PMCID:: PMC8580358

Article PDF–494K

Select item 82449215.

Tone and genes: New cross-linguistic data and methods support the weak negative effect of the “derived” allele of ASPM on tone, but not of Microcephalin

Dan Dediu

PLoS One. 2021; 16(6): e0253546. Published online 2021 Jun 30. doi: 10.1371/journal.pone.0253546

PMCID:: PMC8244921

Abstract Article PDF–6.5M

Select item 81650306.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 81080937.

DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity

Rajat Gupta, Kumar Somyajit, Takeo Narita, Elina Maskey, Andre Stanlie, Magdalena Kremer, Dimitris Typas, Michael Lammers, Niels Mailand, Andre Nussenzweig, Jiri Lukas, Chunaram Choudhary

Cell. Author manuscript; available in PMC 2021 May 10.

Published in final edited form as: Cell. 2018 May 3; 173(4): 972–988.e23. Published online 2018 Apr 12. doi: 10.1016/j.cell.2018.03.050

PMCID:: PMC8108093

Abstract Article PDF–3.5M

Select item 80155648.

Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family

Muhammad I. Naseer, Mahmood Rasool, Angham A. Abdulkareem, Randa I. Bassiouni, Hussein Algahtani, Adeel G. Chaudhary, Mohammad H. Al-Qahtani

Neurosciences (Riyadh) 2018 Oct; 23(4): 346–350. doi: 10.17712/nsj.2018.4.20180095

PMCID:: PMC8015564

Abstract Article PDF–548K

Select item 80059239.

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

Mariam M Al Eissa, Sally I Sharp, Niamh L O’ Brien, Alessia Fiorentino, Nicholas J Bass, David Curtis, Andrew McQuillin

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2021 Mar 29.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2019 Jun; 180(4): 258–265. Published online 2019 Mar 11. doi: 10.1002/ajmg.b.32722

PMCID:: PMC8005923

Abstract Article PDF–344K

Select item 767207510.

Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly

Alessandro Cicconi, Rekha Rai, Xuexue Xiong, Cayla Broton, Amer Al-Hiyasat, Chunyi Hu, Siying Dong, Wenqi Sun, Jennifer Garbarino, Ranjit S. Bindra, Carl Schildkraut, Yong Chen, Sandy Chang

Nat Commun. 2020; 11: 5861. Published online 2020 Nov 17. doi: 10.1038/s41467-020-19674-0

PMCID:: PMC7672075

Abstract Article PDF–5.5M

Select item 749831411.

Microcephaly family protein MCPH1 stabilizes RAD51 filaments

Hao-Yen Chang, Chia-Yi Lee, Chih-Hao Lu, Wei Lee, Han-Lin Yang, Hsin-Yi Yeh, Hung-Wen Li, Peter Chi

Nucleic Acids Res. 2020 Sep 18; 48(16): 9135–9146. Published online 2020 Jul 31. doi: 10.1093/nar/gkaa636

PMCID:: PMC7498314

Abstract Article PDF–5.3M

Select item 736808512.

Analysis of the “centrosome-ome” identifies MCPH1 deletion as a cause of centrosome amplification in human cancer

Ryan A. Denu, Mark E. Burkard

Sci Rep. 2020; 10: 11921. Published online 2020 Jul 17. doi: 10.1038/s41598-020-68629-4

PMCID:: PMC7368085

Abstract Article PDF–2.2M

Select item 733927213.

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

Yulong Liang, Lihou Yu, Dongxiao Zhang, Xuemei Zhao, Hong Gao, Betty L Slagle, John A Goss, Xiaosong Wang, Kaiyi Li, Shiaw-Yih Lin

Am J Cancer Res. 2020; 10(6): 1900–1918. Published online 2020 Jun 1.

PMCID:: PMC7339272

Abstract Article PDF–5.9M

Select item 723105114.

MCPH1 Lack of Function Enhances Mitotic Cell Sensitivity Caused by Catalytic Inhibitors of Topo II

María Arroyo, Antonio Sánchez, Ana Cañuelo, Rosalía F. Heredia-Molina, Eduardo Martínez-Molina, Duncan J. Clarke, Juan Alberto Marchal

Genes (Basel) 2020 Apr; 11(4): 406. Published online 2020 Apr 8. doi: 10.3390/genes11040406

PMCID:: PMC7231051

Abstract Article PDF–2.5M

Select item 676743915.

Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly

Anna Tervasmäki, Tuomo Mantere, Leila Eshraghi, Niina Laurila, Hanna Tuppurainen, Veli‐Pekka Ronkainen, Susanna Koivuluoma, Raman Devarajan, Hellevi Peltoketo, Katri Pylkäs

Int J Cancer. 2019 Oct 15; 145(8): 2070–2081. Published online 2019 Mar 21. doi: 10.1002/ijc.32234

PMCID:: PMC6767439

Abstract Article PDF–10M

Select item 659389016.

MCPH1 is essential for cellular adaptation to the G₂-phase decatenation checkpoint

María Arroyo, Ryoko Kuriyama, Israel Guerrero, Daniel Keifenheim, Ana Cañuelo, Jesús Calahorra, Antonio Sánchez, Duncan J. Clarke, J. Alberto Marchal

FASEB J. 2019 Jul; 33(7): 8363–8374. Published online 2019 Apr 9. doi: 10.1096/fj.201802009RR

PMCID:: PMC6593890

Abstract Article

Select item 642009717.

H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination in sister chromatids

Kyosuke Nakamura, Giulia Saredi, Jordan R. Becker, Benjamin M. Foster, Nhuong V. Nguyen, Tracey Beyer, Laura C. Cesa, Peter A. Faull, Saulius Lukauskas, Thomas Frimurer, J. Ross Chapman, Till Bartke, Anja Groth

Nat Cell Biol. Author manuscript; available in PMC 2019 Aug 25.

Published in final edited form as: Nat Cell Biol. 2019 Mar; 21(3): 311–318. Published online 2019 Feb 25. doi: 10.1038/s41556-019-0282-9

PMCID:: PMC6420097

Article PDF–1.7M

Select item 628435518.

Silencing BRIT1 Facilitates the Abilities of Invasiveness and Migration in Trophoblast Cells

Luping Liu, Li Sun, Jing Zheng, Yanchun Wang

Med Sci Monit. 2018; 24: 7451–7458. Published online 2018 Oct 19. doi: 10.12659/MSM.910229

PMCID:: PMC6284355

Abstract Article PDF–1.8M

Select item 582692619.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 573088920.

The E3 ubiquitin ligase APC/C^C^dh1 degrades MCPH1 after MCPH1‐βTrCP2‐Cdc25A‐mediated mitotic entry to ensure neurogenesis

Xiaoqian Liu, Wen Zong, Tangliang Li, Yujun Wang, Xingzhi Xu, Zhong‐Wei Zhou, Zhao‐Qi Wang

EMBO J. 2017 Dec 15; 36(24): 3666–3681. Published online 2017 Nov 17. doi: 10.15252/embj.201694443

PMCID:: PMC5730889

Abstract Article PDF–2.4M

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