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A novel mutation in a case of pachyonychia congenita from India.
- Published in:
- 2017
- By:
- Publication type:
- case study
Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Management of Plantar Keratodermas<sub>Lessons from Pachyonychia Congenita</sub>.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Management of Plantar Keratodermas: Lessons from Pachyonychia Congenita.
- Published in:
- Journal of the American Podiatric Medical Association, 2017, v. 107, n. 5, p. 428, doi. 10.7547/16-043
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- Publication type:
- Article
Keratin 7 promoter selectively targets transgene expression to normal and neoplastic pancreatic ductal cells in vitro and in vivo.
- Published in:
- FASEB Journal, 2009, v. 23, n. 5, p. 1366, doi. 10.1096/fj.08-115576
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- Publication type:
- Article
SiRNA-Mediated Selective Inhibition of Mutant Keratin mRNAs Responsible for the Skin Disorder Pachyonychia Congenita.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1082, n. 1, p. 56, doi. 10.1196/annals.1348.059
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- Publication type:
- Article
PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.
- Published in:
- Journal of Cutaneous Medicine & Surgery, 2015, v. 19, n. 1, p. 57, doi. 10.2310/7750.2014.14017
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- Publication type:
- Article
Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1770, doi. 10.1038/sj.jid.5700459
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- Publication type:
- Article
See related article on page 892 Nail that Mutation—Keratin 17 Defect in Late-Onset Pachyonychia.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 122, n. 4, p. x, doi. 10.1111/j.0022-202X.2004.22437.x
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- Publication type:
- Article
A Novel Connexin 30 Mutation in Clouston Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 3, p. 530, doi. 10.1046/j.0022-202x.2001.01689.x
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- Publication type:
- Article
Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 6, p. 1391, doi. 10.1046/j.0022-202X.2001.01565.x
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- Publication type:
- Article
Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 116, n. 5, p. 806, doi. 10.1046/j.1523-1747.2001.01335.x
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- Publication type:
- Article
A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 6, p. 1136, doi. 10.1046/j.1523-1747.2000.00983.x
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- Publication type:
- Article
Mutations in Keratin K9 in Kindreds with Epidermolytic Palmoplantar Keratoderma and Epidemiology in Northern Ireland.
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- Journal of Investigative Dermatology, 1998, v. 111, n. 6, p. 1207, doi. 10.1046/j.1523-1747.1998.00445.x
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- Publication type:
- Article
Genomic Organization and Fine Mapping of the Keratin 2e Gene (KRT2E): K2e V1 Domain Polymorphism and Novel Mutations in Ichthyosis Bullosa of Siemens.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 111, n. 5, p. 817, doi. 10.1046/j.1523-1747.1998.00371.x
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- Publication type:
- Article
Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex.
- Published in:
- 1997
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- Publication type:
- Report
Effects of Keratin 14 Ablation on the Clinical and Cellular Phenotype in a Kindred with Recessive Epidermolysis Bullosa Simplex.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 5, p. 764, doi. 10.1111/1523-1747.ep12365805
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- Publication type:
- Article
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
- Published in:
- Nature Genetics, 2013, v. 45, n. 10, p. 1244, doi. 10.1038/ng.2739
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- Publication type:
- Article
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1272, doi. 10.1038/ng.2444
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- Publication type:
- Article
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 441, doi. 10.1038/ng1767
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- Publication type:
- Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 337, doi. 10.1038/ng1743
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- Publication type:
- Article
First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 2, p. 442, doi. 10.1038/mt.2009.273
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- Publication type:
- Article
Pachyonychia Congenita Type I Presenting with Subtle Nail Changes.
- Published in:
- Pediatric Dermatology, 2009, v. 26, n. 4, p. 492, doi. 10.1111/j.1525-1470.2009.00970.x
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- Publication type:
- Article
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 10, p. 941, doi. 10.1002/(SICI)1097-0223(199910)19:10<941::AID-PD663>3.0.CO;2-W
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- Publication type:
- Article
Generation and Characterisation of Keratin 7 (K7) Knockout Mice
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064404
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- Publication type:
- Article
Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028582
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- Publication type:
- Article
First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.
- Published in:
- Maedica - a Journal of Clinical Medicine, 2017, v. 12, n. 2, p. 123
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- Publication type:
- Article
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
- Published in:
- Indian Journal of Dermatology, 2017, v. 62, n. 4, p. 422, doi. 10.4103/ijd.IJD_321_16
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- Publication type:
- Article
Pachyonychia Congenita: New Classification and Diagnosis.
- Published in:
- 2016
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- Publication type:
- Letter to the Editor
Expanding the Phenotypic Spectrum of Olmsted Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 11, p. 2879, doi. 10.1038/jid.2015.217
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- Publication type:
- Article
Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 3, p. 754, doi. 10.1038/jid.2013.356
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- Publication type:
- Article
Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 3, p. 588, doi. 10.1038/jid.2013.392
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- Publication type:
- Article
Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 1, p. 273, doi. 10.1038/jid.2013.277
- By:
- Publication type:
- Article
Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 12, p. 2805, doi. 10.1038/jid.2013.243
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- Publication type:
- Article
Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 7, p. 1921, doi. 10.1038/jid.2011.484
- By:
- Publication type:
- Article
Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 6, p. 1627, doi. 10.1038/jid.2012.28
- By:
- Publication type:
- Article
Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 10, p. 2079, doi. 10.1038/jid.2011.169
- By:
- Publication type:
- Article
The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 5, p. 1015, doi. 10.1038/jid.2011.59
- By:
- Publication type:
- Article
A Large Mutational Study in Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 5, p. 1018, doi. 10.1038/jid.2011.20
- By:
- Publication type:
- Article
Genotype-Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 5, p. 1025, doi. 10.1038/jid.2010.373
- By:
- Publication type:
- Article
Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 5, p. 1045, doi. 10.1038/jid.2011.41
- By:
- Publication type:
- Article
Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 5, p. 1029, doi. 10.1038/jid.2010.372
- By:
- Publication type:
- Article
Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 2, p. 425, doi. 10.1038/jid.2009.215
- By:
- Publication type:
- Article
Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 3, p. 594, doi. 10.1038/sj.jid.5701060
- By:
- Publication type:
- Article
Development of Therapeutic siRNAs for Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 1, p. 50, doi. 10.1038/sj.jid.5701040
- By:
- Publication type:
- Article
Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 12, p. 2795, doi. 10.1038/sj.jid.5700971
- By:
- Publication type:
- Article
Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 6, p. 1282, doi. 10.1038/sj.jid.5700876
- By:
- Publication type:
- Article