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    Items: 1 to 20 of 86

    1.
    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
    ArticlePDF–3.3M
    2.
    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
    ArticlePDF–782K
    3.
    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
    ArticlePDF–3.0M
    4.
    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
    ArticlePDF–494K
    5.
    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
    ArticlePDF–6.5M
    6.
    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
    ArticlePDF–2.2M
    7.
    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
    ArticlePDF–3.5M
    8.
    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
    ArticlePDF–548K
    9.
    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
    ArticlePDF–344K
    10.
    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
    ArticlePDF–5.5M
    11.
    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
    ArticlePDF–5.3M
    12.
    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
    ArticlePDF–2.2M
    13.
    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
    ArticlePDF–5.9M
    14.
    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
    ArticlePDF–2.5M
    15.
    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
    ArticlePDF–10M
    16.
    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
    Article
    17.
    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
    ArticlePDF–1.7M
    18.
    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
    ArticlePDF–1.8M
    19.
    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
    ArticlePDF–2.3M
    20.
    The E3 ubiquitin ligase APC/CCdh1 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
    ArticlePDF–2.4M

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