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Items: 1 to 20 of 175

1.
Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations
Julianne Elvenes, Eva Sjøttem, Turid Holm, Geir Bjørkøy, Terje Johansen
Cell Mol Life Sci. 2010 Dec; 67(23): 4079–4094. Published online 2010 Jun 25. doi: 10.1007/s00018-010-0429-0
PMCID:
PMC11115490
AbstractArticlePDF–1.1M
2.
PAX6 promotes neuroendocrine phenotypes of prostate cancer via enhancing MET/STAT5A-mediated chromatin accessibility
Nan Jing, Xinxing Du, Yu Liang, ZhenKeke Tao, Shijia Bao, Huixiang Xiao, Baijun Dong, Wei-Qiang Gao, Yu-Xiang Fang
J Exp Clin Cancer Res. 2024; 43: 144. Published online 2024 May 15. doi: 10.1186/s13046-024-03064-1
Correction in:
J Exp Clin Cancer Res. 2024; 43: 167.
PMCID:
PMC11094950
AbstractArticlePDF–15M
3.
A positive feedback inhibition of isocitrate dehydrogenase 3β on paired-box gene 6 promotes Alzheimer-like pathology
Xin Wang, Qian Liu, Hai-tao Yu, Jia-zhao Xie, Jun-ning Zhao, Zhi-ting Fang, Min Qu, Yao Zhang, Ying Yang, Jian-Zhi Wang
Signal Transduct Target Ther. 2024; 9: 105. Published online 2024 Apr 29. doi: 10.1038/s41392-024-01812-5
Correction in:
Signal Transduct Target Ther. 2024; 9: 187.
PMCID:
PMC11056379
AbstractArticlePDF–8.5M
4.
过表达PAX6抑制肝癌细胞生长和促进自然杀伤细胞杀伤能力的机制
朱 权, 黄 柏胜, 邬 力祥, 罗 奇志
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Jul 28; 48(7): 947–956. Chinese. doi: 10.11817/j.issn.1672-7347.2023.230050
PMCID:
PMC10930045
AbstractArticlePDF–3.0M
5.
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Genes (Basel) 2023 Nov; 14(11): 2041. Published online 2023 Nov 4. doi: 10.3390/genes14112041
PMCID:
PMC10671545
AbstractArticlePDF–555K
6.
Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes
Erin A. Boese, Mallory R. Tollefson, Michael J. Schnieders, Benjamin W. Darbro, Wallace L.M. Alward, John H. Fingert
Curr Eye Res. Author manuscript; available in PMC 2023 Aug 10.
Published in final edited form as: Curr Eye Res. 2020 Jan; 45(1): 91–96. Published online 2019 Aug 14. doi: 10.1080/02713683.2019.1649704
PMCID:
PMC10413309
AbstractArticlePDF–638K
7.
A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis
Yanping Yu, Hongyan Jia, Qian Ma, Ranran Zhang, Yonghong Jiao
BMC Ophthalmol. 2023; 23: 349. Published online 2023 Aug 8. doi: 10.1186/s12886-023-03054-5
PMCID:
PMC10408164
AbstractArticlePDF–3.1M
8.
Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia
Itsuka Matsushita, Hiroto Izumi, Shinji Ueno, Takaaki Hayashi, Kaoru Fujinami, Kazushige Tsunoda, Takeshi Iwata, Yoshiaki Kiuchi, Hiroyuki Kondo
Genes (Basel) 2023 Jul; 14(7): 1483. Published online 2023 Jul 21. doi: 10.3390/genes14071483
PMCID:
PMC10379490
AbstractArticlePDF–3.7M
9.
Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study
Yu Yao Wang, Xiu Juan Zhang, Ka Wai Kam, Zhen Ji Chen, Yuzhou Zhang, Fang Yao Tang, Fen Fen Li, Pancy O. S. Tam, Wilson W. K. Yip, Alvin L. Young, Clement C. Tham, Chi Pui Pang, Jason C. Yam, Li Jia Chen
Invest Ophthalmol Vis Sci. 2023 Jun; 64(7): 6. Published online 2023 Jun 2. doi: 10.1167/iovs.64.7.6
PMCID:
PMC10243505
AbstractArticlePDF–356K
10.
PAX6 Expression Patterns in the Adult Human Limbal Stem Cell Niche
Naresh Polisetti, Günther Schlunck, Thomas Reinhard
Cells. 2023 Feb; 12(3): 400. Published online 2023 Jan 23. doi: 10.3390/cells12030400
PMCID:
PMC9913671
AbstractArticlePDF–12M
11.
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton
Int J Mol Sci. 2023 Jan; 24(2): 1562. Published online 2023 Jan 13. doi: 10.3390/ijms24021562
PMCID:
PMC9863980
AbstractArticlePDF–993K
12.
Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene
Bernhard O. Boehm, Wolfgang Kratzer, Vikas Bansal
Eur J Hum Genet. 2023 Jan; 31(1): 89–96. Published online 2022 Oct 7. doi: 10.1038/s41431-022-01182-y
PMCID:
PMC9823100
AbstractArticlePDF–902K
13.
DNA hypermethylation of CADM1, PAX5, WT1, RARβ, and PAX6 genes in oropharyngeal cancer associated with human papillomavirus
Natália Birknerová, Helena Kovaříková, Ivana Baranová, Albína Přikrylová, Jan Laco, Hana Vošmiková, Barbora Gajdošová, Miroslav Hodek, Milan Vošmik, Vladimír Palička, Marcela Chmelařová
Epigenetics. 2022; 17(11): 1301–1310. Published online 2022 Jan 3. doi: 10.1080/15592294.2021.2018812
PMCID:
PMC9624252
AbstractArticlePDF–1.4M
14.
PAX6 is frequently expressed in ependymal tumours and associated with prognostic relevant subgroups
Julian Tabasaran, Martin Schuhmann, Martin Ebinger, Jürgen Honegger, Mirjam Renovanz, Jens Schittenhelm
J Clin Pathol. 2022 Nov; 75(11): 759–765. Published online 2021 Jun 28. doi: 10.1136/jclinpath-2021-207526
PMCID:
PMC9606524
AbstractArticlePDF–1.2M
15.
The in vivo Interaction Landscape of Histones H3.1 and H3.3
Robert Siddaway, Scott Milos, Étienne Coyaud, Hwa Young Yun, Shahir M. Morcos, Sanja Pajovic, Eric I. Campos, Brian Raught, Cynthia Hawkins
Mol Cell Proteomics. 2022 Oct; 21(10): 100411. Published online 2022 Sep 9. doi: 10.1016/j.mcpro.2022.100411
PMCID:
PMC9540345
AbstractArticlePDF–3.9M
16.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
17.
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts
Vanita Berry, Alex Ionides, Nikolas Pontikos, Anthony T. Moore, Roy A. Quinlan, Michel Michaelides
Eye (Lond) 2022 Aug; 36(8): 1694–1701. Published online 2021 Aug 3. doi: 10.1038/s41433-021-01711-x
PMCID:
PMC9307513
AbstractArticlePDF–1.1M
18.
Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko
Int J Mol Sci. 2022 Jun; 23(12): 6690. Published online 2022 Jun 15. doi: 10.3390/ijms23126690
PMCID:
PMC9223373
AbstractArticlePDF–265K
19.
ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation
Yana van der Weegen, Klaas de Lint, Diana van den Heuvel, Yuka Nakazawa, Tycho E.T. Mevissen, Janne J.M. van Schie, Marta San Martin Alonso, Daphne E.C. Boer, Román González-Prieto, Ishwarya V. Narayanan, Noud H.M. Klaassen, Annelotte P. Wondergem, Khashayar Roohollahi, Josephine C. Dorsman, Yuichiro Hara, Alfred C.O. Vertegaal, Job de Lange, Johannes C. Walter, Sylvie M. Noordermeer, Mats Ljungman, Tomoo Ogi, Rob M.F. Wolthuis, Martijn S. Luijsterburg
Nat Cell Biol. Author manuscript; available in PMC 2022 Jun 9.
Published in final edited form as: Nat Cell Biol. 2021 Jun; 23(6): 595–607. Published online 2021 Jun 9. doi: 10.1038/s41556-021-00688-9
PMCID:
PMC8890769
AbstractArticlePDF–7.4M
20.
Human transcription factor protein interaction networks
Helka Göös, Matias Kinnunen, Kari Salokas, Zenglai Tan, Xiaonan Liu, Leena Yadav, Qin Zhang, Gong-Hong Wei, Markku Varjosalo
Nat Commun. 2022; 13: 766. Published online 2022 Feb 9. doi: 10.1038/s41467-022-28341-5
PMCID:
PMC8828895
AbstractArticlePDF–1.7M

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