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Select item 93075131.

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

Abstract Article PDF–1.1M

Select item 92902412.

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

Abstract Article PDF–8.2M

Select item 88448273.

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

Abstract Article PDF–6.0M

Select item 80090484.

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

Abstract Article PDF–2.6M

Select item 64257035.

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

Abstract Article PDF–1.0M

Select item 64235736.

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

Abstract Article PDF–1.3M

Select item 52906687.

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

Abstract Article PDF–762K

Select item 50375878.

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

Abstract Article PDF–1.5M

Select item 39374289.

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

Abstract Article PDF–2.6M

Select item 392868710.

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

Abstract Article PDF–1.0M

Select item 325818911.

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

Abstract Article PDF–345K

Select item 317805912.

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

Abstract Article PDF–1.0M

Select item 310374113.

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

Abstract Article PDF–3.3M

Select item 305400114.

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

Abstract Article PDF–743K

Select item 286078315.

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

Abstract Article PDF–1.3M

Select item 284891716.

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

Abstract Article PDF–457K

Select item 257993617.

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

Abstract Article PDF–15M

Select item 209394018.

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

Abstract Article PDF–866K

Select item 173585319.

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

Summary PDF–273K

Select item 141383720.

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

Abstract Article PDF–678K

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