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Items: 1 to 20 of 22

1.
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
2.
Combinatorial targeting of a chromatin complex comprising Dot1L, menin and the tyrosine kinase BAZ1B reveals a new therapeutic vulnerability of endocrine therapy-resistant breast cancer
Annamaria Salvati, Viola Melone, Assunta Sellitto, Francesca Rizzo, Roberta Tarallo, Tuula A. Nyman, Giorgio Giurato, Giovanni Nassa, Alessandro Weisz
Breast Cancer Res. 2022; 24: 52. Published online 2022 Jul 18. doi: 10.1186/s13058-022-01547-7
PMCID:
PMC9290241
AbstractArticlePDF–8.2M
3.
An inducible CRISPR/Cas9 screen identifies DTX2 as a transcriptional regulator of human telomerase
Zhifen Zhou, Yujing Li, Huimin Xu, Xiaowei Xie, Zibin He, Song Lin, Ruofei Li, Shouheng Jin, Jun Cui, Hai Hu, Feng Liu, Su Wu, Wenbin Ma, Zhou Songyang
iScience. 2022 Feb 18; 25(2): 103813. Published online 2022 Jan 25. doi: 10.1016/j.isci.2022.103813
PMCID:
PMC8844827
AbstractArticlePDF–6.0M
4.
Impact of cytosine methylation on DNA binding specificities of human transcription factors
Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale
Science. Author manuscript; available in PMC 2021 Mar 30.
Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239
PMCID:
PMC8009048
AbstractArticlePDF–2.6M
5.
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract
Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang, Yi Lu
BMC Med Genet. 2019; 20: 42. Published online 2019 Mar 20. doi: 10.1186/s12881-019-0782-2
PMCID:
PMC6425703
AbstractArticlePDF–1.0M
6.
PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population
Zehua Wu, Delong Meng, Chengbo Fang, Jian Li, Xiujie Zheng, Jiansuo Lin, Haijiang Zeng, Sihan Lv, Zhenning Zhang, Bing Luan, Zilin Zhong, Jianjun Chen
Mol Med Rep. 2019 Apr; 19(4): 3123–3131. Published online 2019 Feb 26. doi: 10.3892/mmr.2019.9989
PMCID:
PMC6423573
AbstractArticlePDF–1.3M
7.
PITX3 DNA methylation is an independent predictor of overall survival in patients with head and neck squamous cell carcinoma
Verena Sailer, Emily Eva Holmes, Heidrun Gevensleben, Diane Goltz, Freya Dröge, Alina Franzen, Jörn Dietrich, Glen Kristiansen, Friedrich Bootz, Andreas Schröck, Dimo Dietrich
Clin Epigenetics. 2017; 9: 12. Published online 2017 Feb 2. doi: 10.1186/s13148-017-0317-7
PMCID:
PMC5290668
AbstractArticlePDF–762K
8.
PITX3 promoter methylation is a prognostic biomarker for biochemical recurrence-free survival in prostate cancer patients after radical prostatectomy
Emily Eva Holmes, Diane Goltz, Verena Sailer, Maria Jung, Sebastian Meller, Barbara Uhl, Jörn Dietrich, Magda Röhler, Jörg Ellinger, Glen Kristiansen, Dimo Dietrich
Clin Epigenetics. 2016; 8: 104. Published online 2016 Sep 26. doi: 10.1186/s13148-016-0270-x
PMCID:
PMC5037587
AbstractArticlePDF–1.5M
9.
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Hannah Verdin, Elena A Sorokina, Françoise Meire, Ingele Casteels, Thomy de Ravel, Elena V Semina, Elfride De Baere
Orphanet J Rare Dis. 2014; 9: 26. Published online 2014 Feb 20. doi: 10.1186/1750-1172-9-26
PMCID:
PMC3937428
AbstractArticlePDF–2.6M
10.
Functional Roles of Nurr1, Pitx3, and Lmx1a in Neurogenesis and Phenotype Specification of Dopamine Neurons During In Vitro Differentiation of Embryonic Stem Cells
Sunghoi Hong, Sangmi Chung, Kaka Leung, Insik Hwang, Jisook Moon, Kwang-Soo Kim
Stem Cells Dev. 2014 Mar 1; 23(5): 477–487. Published online 2013 Oct 30. doi: 10.1089/scd.2013.0406
PMCID:
PMC3928687
AbstractArticlePDF–1.0M
11.
Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
Manèl Chograni, Myriam Chaabouni, Faouzi Mâazoul, Hedi Bouzid, Abdelhafid Kraiem, Habiba B Bouhamed Chaabouni
BMC Ophthalmol. 2011; 11: 35. Published online 2011 Nov 21. doi: 10.1186/1471-2415-11-35
PMCID:
PMC3258189
AbstractArticlePDF–345K
12.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
13.
A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract
Vanita Berry, Peter J. Francis, Quincy Prescott, Naushin H. Waseem, Anthony T. Moore, Shomi S. Bhattacharya
Mol Vis. 2011; 17: 1249–1253. Published online 2011 May 6.
PMCID:
PMC3103741
AbstractArticlePDF–3.3M
14.
Multiple coregulatory control of tyrosine hydroxylase gene transcription
Sirigiri Divijendra Natha Reddy, Suresh K. Rayala, Kazufumi Ohshiro, Suresh B. Pakala, Nobuhide Kobori, Pramod Dash, Sung Yun, Jun Qin, Bert W. O'Malley, Rakesh Kumar
Proc Natl Acad Sci U S A. 2011 Mar 8; 108(10): 4200–4205. Published online 2011 Feb 22. doi: 10.1073/pnas.1101193108
PMCID:
PMC3054001
AbstractArticlePDF–743K
15.
Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer’s disease
J Chapuis, D Hot, F Hansmannel, O Kerdraon, S Ferreira, C Hubans, CA Maurage, L Huot, F Bensemain, G Laumet, AM Ayral, N Fievet, JJ Hauw, ST DeKosky, Y Lemoine, T Iwatsubo, F Wavrant-Devrièze, JF Dartigues, C Tzourio, L Buée, F Pasquier, C Berr, D Mann, C Lendon, A Alpérovitch, MI Kamboh, P Amouyel, JC Lambert
Mol Psychiatry. Author manuscript; available in PMC 2010 Apr 28.
Published in final edited form as: Mol Psychiatry. 2009 Nov; 14(11): 1004–1016. Published online 2009 Feb 10. doi: 10.1038/mp.2009.10
PMCID:
PMC2860783
AbstractArticlePDF–1.3M
16.
Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation
Manèl Chograni, Myriam Chaabouni, Imen Chelly, Mohamed Bechir Helayem, Habiba Chaabouni-Bouhamed
Mol Vis. 2010; 16: 582–585. Published online 2010 Apr 3.
PMCID:
PMC2848917
AbstractArticlePDF–457K
17.
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3
Kim M. Summers, Stephen J. Withers, Glen A. Gole, Sara Piras, Peter J. Taylor
Mol Vis. 2008; 14: 2010–2015. Published online 2008 Nov 5.
PMCID:
PMC2579936
AbstractArticlePDF–15M
18.
Functional analysis of human mutations in homeodomain transcription factor PITX3
Satoru Sakazume, Elena Sorokina, Yoshiki Iwamoto, Elena V Semina
BMC Mol Biol. 2007; 8: 84. Published online 2007 Sep 21. doi: 10.1186/1471-2199-8-84
PMCID:
PMC2093940
AbstractArticlePDF–866K
19.
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)
V Berry, Z Yang, P Addison, P Francis, A Ionides, G Karan, L Jiang, W Lin, J Hu, R Yang, A Moore, K Zhang, S Bhattacharya
J Med Genet. 2004 Aug; 41(8): e109. doi: 10.1136/jmg.2004.020289
PMCID:
PMC1735853
SummaryPDF–273K
20.
Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype
Cecile Martinat, Jean-Jacques Bacci, Thomas Leete, Jongpil Kim, William B. Vanti, Amy H. Newman, Joo H. Cha, Ulrik Gether, Honggang Wang, Asa Abeliovich
Proc Natl Acad Sci U S A. 2006 Feb 21; 103(8): 2874–2879. Published online 2006 Feb 13. doi: 10.1073/pnas.0511153103
PMCID:
PMC1413837
AbstractArticlePDF–678K

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