Found: 34
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Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 927, doi. 10.1007/s00439-023-02570-0
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- Publication type:
- Article
The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development.
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- Human Genetics, 2020, v. 139, n. 12, p. 1541, doi. 10.1007/s00439-020-02195-7
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- Publication type:
- Article
iSyTE 2.0: a database for expression-based gene discovery in the eye.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. D1, p. D875, doi. 10.1093/nar/gkx837
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- Publication type:
- Article
Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300.
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- Nucleic Acids Research, 2013, v. 41, n. 22, p. 10199, doi. 10.1093/nar/gkt824
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- Publication type:
- Article
A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23873-8
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- Publication type:
- Article
The RNA-binding protein Celf1 post-transcriptionally regulates p27<sup>Kip1</sup> and Dnase2b to control fiber cell nuclear degradation in lens development.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007278
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- Article
The regulation of EFG1 in white–opaque switching in Candida albicans involves overlapping promoters.
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- Molecular Microbiology, 2003, v. 48, n. 2, p. 523, doi. 10.1046/j.1365-2958.2003.t01-1-03448.x
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- Publication type:
- Article
Pax6- and Six3-Mediated Induction of Lens Cell Fate in Mouse and Human ES Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115106
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- Article
An Evolutionarily Conserved Enhancer Regulates Bmp4 Expression in Developing Incisor and Limb Bud.
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- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038568
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- Publication type:
- Article
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
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- Birth Defects Research, 2017, v. 109, n. 1, p. 27, doi. 10.1002/bdra.23596
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- Publication type:
- Article
MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract.
- Published in:
- Human Genetics, 2020, v. 139, n. 2, p. 151, doi. 10.1007/s00439-019-02095-5
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- Publication type:
- Article
High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1391, doi. 10.1007/s00439-019-02084-8
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- Publication type:
- Article
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery.
- Published in:
- Human Genetics, 2018, v. 137, n. 11/12, p. 941, doi. 10.1007/s00439-018-1958-0
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- Publication type:
- Article
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
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- Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6
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- Publication type:
- Article
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 717, doi. 10.1007/s00439-015-1554-5
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- Publication type:
- Article
The cell adhesion gene PVRL3 is associated with congenital ocular defects.
- Published in:
- Human Genetics, 2012, v. 131, n. 2, p. 235, doi. 10.1007/s00439-011-1064-z
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- Publication type:
- Article
A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression.
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- Journal of Developmental Biology, 2021, v. 9, n. 3, p. 27, doi. 10.3390/jdb9030027
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- Article
Identification of differentially expressed transcripts in Tdrd7 null mutant mouse lens (747.1).
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- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.747.1
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- Publication type:
- Article
Characterization of Celf1 function in mouse lens cell lines (746.1).
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- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.746.1
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- Article
Modeling ocular lens disease in Xenopus.
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- Developmental Dynamics, 2020, v. 249, n. 5, p. 610, doi. 10.1002/dvdy.147
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- Article
Deficiency of the RNA binding protein caprin2 causes lens defects and features of peters anomaly.
- Published in:
- Developmental Dynamics, 2015, v. 244, n. 10, p. 1313, doi. 10.1002/dvdy.24303
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- Publication type:
- Article
The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2076, doi. 10.1093/hmg/ddaa096
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- Publication type:
- Article
The master transcription factor SOX2, mutated in anophthalmia/microphthalmia, is post-transcriptionally regulated by the conserved RNA-binding protein RBM24 in vertebrate eye development.
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- Human Molecular Genetics, 2020, v. 29, n. 4, p. 591, doi. 10.1093/hmg/ddz278
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- Article
RNA‐binding proteins and their downstream regulatory networks in lens development and cataract.
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- 2024
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- Publication type:
- Abstract
iSyTE: A web resource tool to expedite eye gene discovery.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5007
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- Article
A Transcriptomics Analysis of the Regulation of Lens Fiber Cell Differentiation in the Absence of FGFRs and PTEN.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 14, p. 1222, doi. 10.3390/cells13141222
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- Publication type:
- Article
Eye Lens Organoids Made Simple: Characterization of a New Three-Dimensional Organoid Model for Lens Development and Pathology.
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- Cells (2073-4409), 2023, v. 12, n. 20, p. 2478, doi. 10.3390/cells12202478
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- Article
High-Throughput Transcriptomics of Celf1 Conditional Knockout Lens Identifies Downstream Networks Linked to Cataract Pathology.
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- Cells (2073-4409), 2023, v. 12, n. 7, p. 1070, doi. 10.3390/cells12071070
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- Article
Lens Epithelial Explants Treated with Vitreous Humor Undergo Alterations in Chromatin Landscape with Concurrent Activation of Genes Associated with Fiber Cell Differentiation and Innate Immune Response.
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- Cells (2073-4409), 2023, v. 12, n. 3, p. 501, doi. 10.3390/cells12030501
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- Article
Cover Image, Volume 39, Issue 4.
- Published in:
- Human Mutation, 2018, v. 39, n. 4, p. i, doi. 10.1002/humu.23414
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- Article
Mutation update of transcription factor genes <italic>FOXE3</italic>, <italic>HSF4</italic>, <italic>MAF</italic>, and <italic>PITX3</italic> causing cataracts and other developmental ocular defects.
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- Human Mutation, 2018, v. 39, n. 4, p. 471, doi. 10.1002/humu.23395
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- Publication type:
- Article
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.
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- Genetic Epidemiology, 2019, v. 43, n. 6, p. 704, doi. 10.1002/gepi.22214
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- Publication type:
- Article
RNA-binding proteins in eye development and disease: implication of conserved RNA granule components.
- Published in:
- Wiley Interdisciplinary Reviews: RNA, 2016, v. 7, n. 4, p. 527, doi. 10.1002/wrna.1355
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- Article
Cover Image, Volume 7, Issue 4.
- Published in:
- Wiley Interdisciplinary Reviews: RNA, 2016, v. 7, n. 4, p. i, doi. 10.1002/wrna.1371
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- Publication type:
- Article