Found: 117
Select item for more details and to access through your institution.
Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Old King Coal -- molecular mechanisms underlying an ancient treatment for atopic eczema.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 2, p. 934, doi. 10.1172/JCI67438
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Novel TGM5 mutations in acral peeling skin syndrome.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 4, p. 285, doi. 10.1111/exd.12650
- By:
- 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.
- Published in:
- Experimental Dermatology, 2010, v. 19, n. 8, p. e343, doi. 10.1111/j.1600-0625.2010.01109.x
- By:
- Publication type:
- Article
Human keratin diseases: Hereditary fragility of specific epithelial tissues.
- Published in:
- Experimental Dermatology, 1996, v. 5, n. 6, p. 297, doi. 10.1111/j.1600-0625.1996.tb00133.x
- By:
- Publication type:
- Article
Plectin and human genetic disorders of the skin and muscle.
- Published in:
- Experimental Dermatology, 1996, v. 5, n. 5, p. 237, doi. 10.1111/j.1600-0625.1996.tb00124.x
- By:
- Publication type:
- Article
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137639
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica.
- Published in:
- Archives of Dermatological Research, 2001, v. 293, n. 8, p. 392, doi. 10.1007/s004030100246
- By:
- 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
- By:
- Publication type:
- Article
Characterization of human skin fibroblast extracellular proteins by two-dimensional polyacrylamide gel electrophoresis.
- Published in:
- Electrophoresis, 1988, v. 9, n. 7, p. 343, doi. 10.1002/elps.1150090711
- By:
- 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
- By:
- Publication type:
- Article
Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Loss-of-Function Mutations in the Gene Encoding Filaggrin Are Not Strongly Associated with Chronic Actinic Dermatitis.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 7, p. 1919, doi. 10.1038/jid.2015.64
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Atopic Dermatitis and Disease Severity Are the Main Risk Factors for Food Sensitization in Exclusively Breastfed Infants.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 345, doi. 10.1038/jid.2013.298
- By:
- 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
- By:
- Publication type:
- Article
Heritable Filaggrin Disorders: The Paradigm of Atopic Dermatitis.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, p. E20, doi. 10.1038/skinbio.2012.6
- By:
- 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
Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 5, p. 1507, doi. 10.1038/jid.2011.479
- By:
- Publication type:
- Article
One Remarkable Molecule: Filaggrin.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 2, p. 751, doi. 10.1038/jid.2011.393
- By:
- Publication type:
- Article
Novel Molecular Therapies for Heritable Skin Disorders.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 2, p. 820, doi. 10.1038/jid.2011.389
- By:
- Publication type:
- Article
Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 1, p. 98, doi. 10.1038/jid.2011.342
- 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
Obtaining DNA in the Mail from a National Sample of Children with a Chronic Non-Fatal Illness.
- Published in:
- 2011
- By:
- Publication type:
- Letter
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
Toward a Treatment for Pachyonychia Congenita: Report on the 7th Annual International Pachyonychia Congenita Consortium Meeting.
- Published in:
- 2011
- By:
- Publication type:
- Proceeding
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
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
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
Skin Barrier Function in Healthy Subjects and Patients with Atopic Dermatitis in Relation to Filaggrin Loss-of-Function Mutations.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Japanese-Specific Filaggrin Gene Mutations in Japanese Patients Suffering from Atopic Eczema and Asthma.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 8, p. 2057, doi. 10.1038/jid.2010.88
- 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
Achieving Successful Delivery of Nucleic Acids to Skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium.
- Published in:
- 2009
- By:
- Publication type:
- Proceeding