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278 results

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Page 1
Multifaceted Microcephaly-Related Gene MCPH1.
Kristofova M, Ori A, Wang ZQ. Kristofova M, et al. Cells. 2022 Jan 14;11(2):275. doi: 10.3390/cells11020275. Cells. 2022. PMID: 35053391 Free PMC article. Review.
MCPH1, or BRIT1, is often mutated in human primary microcephaly type 1, a neurodevelopmental disorder characterized by a smaller brain size at birth, due to its dysfunction in regulating the proliferation and self-renewal of neuroprogenitor cells. ...Here, we summarize the …
MCPH1, or BRIT1, is often mutated in human primary microcephaly type 1, a neurodevelopmental disorder characterized by a smaller brai …
The emerging role of MCPH1/BRIT1 in carcinogenesis.
Alsolami M, Aboalola D, Malibari D, Alghamdi T, Alshekhi W, Jad H, Rumbold-Hall R, Altowairqi AS, Bell SM, Alsiary RA. Alsolami M, et al. Front Oncol. 2023 Jan 31;13:1047588. doi: 10.3389/fonc.2023.1047588. eCollection 2023. Front Oncol. 2023. PMID: 36845691 Free PMC article. Review.
MCPH1/BRIT1 is also known as a tumour suppressor in different types of human cancer. The expression level of the MCPH1/BRIT1 gene is decreased at the DNA, RNA or protein level in a number of types of cancers including breast cancer, lung cancer, cervical cancer, pro …
MCPH1/BRIT1 is also known as a tumour suppressor in different types of human cancer. The expression level of the MCPH1/BRIT1 g …
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG, Pollazzon M, Farooq M, Fatima A, Larsen LA, Zuntini R, Napoli M, Garavelli L. Caraffi SG, et al. Genes (Basel). 2022 Apr 2;13(4):634. doi: 10.3390/genes13040634. Genes (Basel). 2022. PMID: 35456440 Free PMC article. Review.
It is also involved in DNA damage response and telomere maintenance in the nucleus. Despite numerous studies on MCPH1 function, MCPH1-affected individuals are rare and the available clinical reports are not sufficient to define the natural history of the disease. .. …
It is also involved in DNA damage response and telomere maintenance in the nucleus. Despite numerous studies on MCPH1 function, MC …
MCPH1, beyond its role deciding the brain size.
Kristofova M, Wang ZQ. Kristofova M, et al. Aging (Albany NY). 2021 Oct 27;13(20):23437-23439. doi: 10.18632/aging.203658. Epub 2021 Oct 27. Aging (Albany NY). 2021. PMID: 34705666 Free PMC article. No abstract available.
MCPH1: a window into brain development and evolution.
Pulvers JN, Journiac N, Arai Y, Nardelli J. Pulvers JN, et al. Front Cell Neurosci. 2015 Mar 27;9:92. doi: 10.3389/fncel.2015.00092. eCollection 2015. Front Cell Neurosci. 2015. PMID: 25870538 Free PMC article. Review.
MCPH1 causes microcephaly in mice and humans and is involved in a diverse array of molecular functions beyond brain development, including DNA repair and chromosome condensation. Positive selection of MCPH1 in the primate lineage has led to much insight and discussi …
MCPH1 causes microcephaly in mice and humans and is involved in a diverse array of molecular functions beyond brain development, incl …
Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.
Vial Y, Nardelli J, Bonnard AA, Rousselot J, Souyri M, Gressens P, Cavé H, Drunat S. Vial Y, et al. EMBO Rep. 2024 May;25(5):2418-2440. doi: 10.1038/s44319-024-00123-8. Epub 2024 Apr 11. EMBO Rep. 2024. PMID: 38605277 Free PMC article.
To understand this association, we studied the role of the microcephaly gene Mcph1 in hematological development. Our research revealed that Mcph1-knockout mice exhibited congenital macrocytic anemia due to impaired terminal erythroid differentiation during fetal dev …
To understand this association, we studied the role of the microcephaly gene Mcph1 in hematological development. Our research reveale …
Emerging roles of MCPH1: expedition from primary microcephaly to cancer.
Venkatesh T, Suresh PS. Venkatesh T, et al. Eur J Cell Biol. 2014 Mar;93(3):98-105. doi: 10.1016/j.ejcb.2014.01.005. Epub 2014 Jan 29. Eur J Cell Biol. 2014. PMID: 24560403 Review.
Genetic mutations in microcephalin1 (MCPH1) cause primary autosomal recessive microcephaly which is characterized by a marked reduction in brain size. ...Given the diverse new emerging roles, it becomes critical to review and summarize the multiple roles of MCPH1 th …
Genetic mutations in microcephalin1 (MCPH1) cause primary autosomal recessive microcephaly which is characterized by a marked reducti …
Microcephaly family protein MCPH1 stabilizes RAD51 filaments.
Chang HY, Lee CY, Lu CH, Lee W, Yang HL, Yeh HY, Li HW, Chi P. Chang HY, et al. Nucleic Acids Res. 2020 Sep 18;48(16):9135-9146. doi: 10.1093/nar/gkaa636. Nucleic Acids Res. 2020. PMID: 32735676 Free PMC article.
Accordingly, the efficiency of HR is significantly attenuated upon depletion of MCPH1. The biochemical characteristics of MCPH1 and its functional interaction with the HR machinery had remained unclear due to lack of highly purified MCPH1 recombinant protein …
Accordingly, the efficiency of HR is significantly attenuated upon depletion of MCPH1. The biochemical characteristics of MCPH1 …
The DNA damage response molecule MCPH1 in brain development and beyond.
Liu X, Zhou ZW, Wang ZQ. Liu X, et al. Acta Biochim Biophys Sin (Shanghai). 2016 Jul;48(7):678-85. doi: 10.1093/abbs/gmw048. Epub 2016 May 19. Acta Biochim Biophys Sin (Shanghai). 2016. PMID: 27197793 Free article. Review.
MCPH1 has originally been identified as an important regulator of telomere integrity and of cell cycle control. ...In addition to its role in neurogenesis, MCPH1 plays a role in gonad development. MCPH1 also functions as a tumor suppressor in several human ca …
MCPH1 has originally been identified as an important regulator of telomere integrity and of cell cycle control. ...In addition to its …
278 results