Literature DB >> 15591271

Mutation in PITX2 is associated with ring dermoid of the cornea.

K Xia1, L Wu, X Liu, X Xi, D Liang, D Zheng, F Cai, Q Pan, Z Long, H Dai, Z Hu, B Tang, Z Zhang, J Xia.   

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Year:  2004        PMID： 15591271      PMCID： PMC1735645          DOI： 10.1136/jmg.2004.022434

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  15 in total

Review 1.  Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Authors:  Zeynep Tümer; Daniella Bach-Holm
Journal:  Eur J Hum Genet       Date:  2009-06-10       Impact factor: 4.246

Review 2.  Pitx genes in development and disease.

Authors:  Thai Q Tran; Chrissa Kioussi
Journal:  Cell Mol Life Sci       Date:  2021-04-12       Impact factor: 9.261

3.  1H, 13C and 15N chemical shift assignments for the human Pitx2 homeodomain and a R24H homeodomain mutant.

Authors:  Thomas Doerdelmann; Douglas J Kojetin; Jamie M Baird-Titus; Mark Rance
Journal:  Biomol NMR Assign       Date:  2010-11-04       Impact factor: 0.746

4.  The association of maternal factors with epibulbar dermoid of newborn: a retrospective, matched case-control study.

Authors:  S Wu; Y Fan; D Wu; J Hong; J Xu
Journal:  Eye (Lond)       Date:  2017-03-24       Impact factor: 3.775

5.  Studies of a pedigree with limbal dermoid cyst.

Authors:  Jing Zhu; Hong-Bo Cheng; Ning Fan; Chun-Ming Liu; Wen-Han Yu; Xiao-Ming Chen; Xu-Yang Liu
Journal:  Int J Ophthalmol       Date:  2012-10-18       Impact factor: 1.779

6.  Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

Authors:  Bethany A Volkmann; Natalya S Zinkevich; Aki Mustonen; Kala F Schilter; Dmitry V Bosenko; Linda M Reis; Ulrich Broeckel; Brian A Link; Elena V Semina
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-03-18       Impact factor: 4.799

7.  Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.

Authors:  Thomas Doerdelmann; Douglas J Kojetin; Jamie M Baird-Titus; Laura A Solt; Thomas P Burris; Mark Rance
Journal:  Biochemistry       Date:  2012-01-06       Impact factor: 3.162

8.  Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Authors:  Dominique Brémond-Gignac; Pierre Bitoun; Linda M Reis; Henri Copin; Jeffrey C Murray; Elena V Semina
Journal:  Mol Vis       Date:  2010-08-22       Impact factor: 2.367

9.  Transdifferentiation from cornea to lens in Xenopus laevis depends on BMP signalling and involves upregulation of Wnt signalling.

Authors:  Robert C Day; Caroline W Beck
Journal:  BMC Dev Biol       Date:  2011-09-06       Impact factor: 1.978

10.  Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.

Authors:  Nicole L Maciolek; Wallace L M Alward; Jeffrey C Murray; Elena V Semina; Mark T McNally
Journal:  BMC Med Genet       Date:  2006-07-11       Impact factor: 2.103
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