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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.
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- 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
Novel TGM5 mutations in acral peeling skin syndrome.
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- Experimental Dermatology, 2015, v. 24, n. 4, p. 285, doi. 10.1111/exd.12650
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- Publication type:
- Article
Missing C-terminal filaggrin expression, NFkappaB activation and hyperproliferation identify the dog as a putative model to study epidermal dysfunction in atopic dermatitis.
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- Experimental Dermatology, 2010, v. 19, n. 8, p. e343, doi. 10.1111/j.1600-0625.2010.01109.x
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- Publication type:
- Article
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.
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- British Journal of Dermatology, 1999, v. 140, n. 3, p. 486, doi. 10.1046/j.1365-2133.1999.02715.x
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- Publication type:
- Article
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
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- British Journal of Dermatology, 1998, v. 139, n. 3, p. 475, doi. 10.1046/j.1365-2133.1998.02413.x
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- Article
PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.
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- Journal of Cutaneous Medicine & Surgery, 2015, v. 19, n. 1, p. 57, doi. 10.2310/7750.2014.14017
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- Article
Keratin disorders: from gene to therapy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. R2, p. R189, doi. 10.1093/hmg/ddr379
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- Publication type:
- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
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- Human Molecular Genetics, 2004, v. 13, n. 3, p. 365
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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.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1770, doi. 10.1038/sj.jid.5700459
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- Article
Breaking the (Un)Sound Barrier: Filaggrin Is a Major Gene for Atopic Dermatitis.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 6, p. 1200, doi. 10.1038/sj.jid.5700365
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- Publication type:
- Article
Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin.
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- Journal of Investigative Dermatology, 2006, v. 126, n. 3, p. 607, doi. 10.1038/sj.jid.5700152
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- Article
See related article on page 652 Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae.
- Published in:
- 2004
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- Publication type:
- Editorial
Novel Mechanism of Revertant Mosaicism in Dowling−Meara Epidermolysis Bullosa Simplex.
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- Journal of Investigative Dermatology, 2004, v. 122, n. 1, p. 73, doi. 10.1046/j.0022-202X.2003.22129.x
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- Publication type:
- Article
Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome.
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- Journal of Investigative Dermatology, 2004, v. 122, n. 1, p. 78, doi. 10.1046/j.0022-202X.2003.22136.x
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- Article
ORIGINAL ARTICLE Clouston Syndrome Can Mimic Pachyonychia Congenita.
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- Journal of Investigative Dermatology, 2003, v. 121, n. 5, p. 1035, doi. 10.1046/j.1523-1747.2003.12527.x
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- Publication type:
- Article
Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis Bullosa Simplex Patients.
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- Journal of Investigative Dermatology, 2003, v. 120, n. 3, p. 495, doi. 10.1046/j.1523-1747.2003.12052.x
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- Publication type:
- Article
Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1.
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- Journal of Investigative Dermatology, 2002, v. 119, n. 4, p. 966, doi. 10.1046/j.1523-1747.2002.00186.x
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- Publication type:
- Article
Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles.
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- Journal of Investigative Dermatology, 2002, v. 119, n. 1, p. 32, doi. 10.1046/j.1523-1747.2002.01806.x
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- Publication type:
- Article
Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma.
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- Journal of Investigative Dermatology, 2002, v. 118, n. 5, p. 838, doi. 10.1046/j.1523-1747.2002.01750.x
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- Publication type:
- Article
A Novel Connexin 30 Mutation in Clouston Syndrome.
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- 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
Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome.
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- Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 232, doi. 10.1046/j.0022-202x.2001.01664.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.
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- 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.
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- 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
The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21.
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- Journal of Investigative Dermatology, 2000, v. 115, n. 4, p. 694, doi. 10.1046/j.1523-1747.2000.00097.x
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- Publication type:
- Article
A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus.
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- 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
An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1.
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- Journal of Investigative Dermatology, 1998, v. 111, n. 6, p. 1224, doi. 10.1046/j.1523-1747.1998.00389.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.
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- 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.
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- 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
Ultrastructural Changes Resulting from Keratin-9 Gene Mutations in Two Families with Epidermolytic Palmoplantar Keratoderma.
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- Journal of Investigative Dermatology, 1995, v. 104, n. 3, p. 425, doi. 10.1111/1523-1747.ep12666011
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- Publication type:
- Article
Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene.
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- Journal of Investigative Dermatology, 1994, v. 103, n. 3, p. 286, doi. 10.1111/1523-1747.ep12394414
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- Publication type:
- Article
Ichthyosis Bullosa of Siemens--A Disease Involving Keratin 2e.
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- 1994
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- Publication type:
- Report
Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE).
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 1, p. 24, doi. 10.1111/1523-1747.ep12371726
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- Publication type:
- Article
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.
- Published in:
- Nature Genetics, 2009, v. 41, n. 5, p. 602, doi. 10.1038/ng.358
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- Publication type:
- Article
Combing the genome for the root cause of baldness.
- Published in:
- Nature Genetics, 2008, v. 40, n. 11, p. 1270, doi. 10.1038/ng1108-1270
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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.
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- Molecular Therapy, 2010, v. 18, n. 2, p. 442, doi. 10.1038/mt.2009.273
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- Publication type:
- Article
Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07741-6
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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
A novel keratin 13 variant in a four-generation family with white sponge nevus.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 9, p. 1503, doi. 10.1002/ccr3.1073
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- Publication type:
- Article
Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study.
- Published in:
- Contact Dermatitis (01051873), 2014, v. 70, n. 3, p. 139, doi. 10.1111/cod.12139
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- Publication type:
- Article
Patients with atopic dermatitis with filaggrin loss‐of‐function mutations show good but lower responses to immunosuppressive treatment.
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
Identification of translational dermatology research priorities in the U.K.: results of an electronic Delphi exercise.
- Published in:
- British Journal of Dermatology, 2015, v. 173, n. 5, p. 1191, doi. 10.1111/bjd.14022
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- Publication type:
- Article
Improved Annotation of 3′ Untranslated Regions and Complex Loci by Combination of Strand-Specific Direct RNA Sequencing, RNA-Seq and ESTs.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094270
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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.
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- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028582
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- Publication type:
- Article
Carrier Status for the Common R501X and 2282del4 Filaggrin Mutations Is Not Associated with Hearing Phenotypes in 5377 Children from the ALSPAC Cohort.
- Published in:
- PLoS ONE, 2009, v. 4, n. 6, p. 1, doi. 10.1371/journal.pone.0005784
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- Publication type:
- Article
Gene-Environment Interaction in the Onset of Eczema in Infancy: Filaggrin Loss-of-Function Mutations Enhanced by Neonatal Cat Exposure.
- Published in:
- PLoS Medicine, 2008, v. 5, n. 6, p. e131, doi. 10.1371/journal.pmed.0050131
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- Publication type:
- Article