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Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.
- Published in:
- EMBO Molecular Medicine, 2012, v. 4, n. 3, p. 192, doi. 10.1002/emmm.201100199
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- Publication type:
- Article
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Treacher Collins syndrome.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
- Published in:
- Nature Medicine, 2008, v. 14, n. 2, p. 125, doi. 10.1038/nm1725
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- Publication type:
- Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
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- Publication type:
- Article
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.
- Published in:
- Nature Genetics, 2006, v. 38, n. 11, p. 1329, doi. 10.1038/ng1894
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- Publication type:
- Article
p63 exerts spatio-temporal control of palatal epithelial cell fate to prevent cleft palate.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 6, p. 1, doi. 10.1371/journal.pgen.1006828
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- Publication type:
- Article
BOOK REVIEW.
- Published in:
- 2012
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- Publication type:
- Book Review
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 2, p. 114, doi. 10.1111/exd.12593
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- Publication type:
- Article
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
- Published in:
- WIREs: Developmental Biology, 2017, v. 6, n. 3, p. n/a, doi. 10.1002/wdev.263
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- Publication type:
- Article
Cytokeratin 15 Marks Basal Epithelia in Developing Ureters and Is Upregulated in a Subset of Urothelial Cell Carcinomas.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081167
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- Publication type:
- Article
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
- Published in:
- Human Genetics, 2016, v. 135, n. 1, p. 41, doi. 10.1007/s00439-015-1606-x
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- Publication type:
- Article
BONE MASS IN HIRSUTE WOMEN WITH ANDROGEN EXCESS.
- Published in:
- Clinical Endocrinology, 1989, v. 30, n. 3, p. 271, doi. 10.1111/j.1365-2265.1989.tb02235.x
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- Publication type:
- Article
Treacher Collins syndrome: etiology, pathogenesis and prevention.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 275, doi. 10.1038/ejhg.2008.221
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- Publication type:
- Article
Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.
- Published in:
- Nature Communications, 2016, v. 7, n. 1, p. 10328, doi. 10.1038/ncomms10328
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- Publication type:
- Article
Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein treacle.
- Published in:
- Developmental Dynamics, 2004, v. 229, n. 4, p. 907
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- Publication type:
- Article
Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 6, p. 1206, doi. 10.1093/hmg/dds528
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- Publication type:
- Article
p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 3, p. 531, doi. 10.1093/hmg/dds464
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- Publication type:
- Article
Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 8, p. 1782, doi. 10.1093/hmg/ddr611
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- Publication type:
- Article
Importance of antimicrobial stewardship to the English National Health Service.
- Published in:
- Infection & Drug Resistance, 2014, v. 7, p. 145, doi. 10.2147/IDR.S39185
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- Publication type:
- Article
Mammalian Neurogenesis Requires Treacle-Plk1 for Precise Control of Spindle Orientation, Mitotic Progression, and Maintenance of Neural Progenitor Cells.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 3, p. 1, doi. 10.1371/journal.pgen.1002566
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- Publication type:
- Article
Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1405, doi. 10.1002/humu.20795
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- Publication type:
- Article
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1551, doi. 10.1093/hmg/ddq028
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- Publication type:
- Article
Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 14, p. 2632, doi. 10.1093/hmg/ddp201
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- Publication type:
- Article
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 2035, doi. 10.1093/hmg/ddi208
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- Publication type:
- Article
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 835, doi. 10.1093/hmg/10.8.835
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- Publication type:
- Article
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1473, doi. 10.1093/hmg/9.10.1473
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- Publication type:
- Article
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1795, doi. 10.1093/hmg/7.11.1795
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- Publication type:
- Article
Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 5, p. 727, doi. 10.1093/hmg/6.5.727
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- Publication type:
- Article
Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1533, doi. 10.1093/hmg/5.10.1533
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- Publication type:
- Article
Trinucleotide repeat polymorphism at the D5S373 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 829
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- Publication type:
- Article
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 4, p. 249
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- Publication type:
- Article