115 results on '"Smith, Frances J.D."'
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2. In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation
3. Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants
4. Filaggrin null mutations are associated with increased asthma severity in children and young adults
5. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
6. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome
7. An appraisal of oral retinoids in the treatment of pachyonychia congenita
8. Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16
9. The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr (ital) gene by cDNA and genomic sequencing
10. PACHYONYCHIA CONGENITA TYPE I PRESENTING WITH SUBTLE NAIL CHANGES
11. Molecular Genetics Methods for Human Intermediate Filament Diseases
12. Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis
13. Novel Mechanism of Revertant Mosaicism in Dowling–Meara Epidermolysis Bullosa Simplex
14. Clouston Syndrome Can Mimic Pachyonychia Congenita
15. A Homozygous Nonsense Mutation in the PLEC1 Gene in Patients with Epidermolysis Bullosa Simplex with Muscular Dystrophy
16. Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2
17. Report of the tenth annual International Pachyonychia Congenita Consortium meeting
18. A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus
19. Molecular Genetics of Meesmann's Corneal Dystrophy: Ancestral and Novel Mutations in Keratin 12 (K12) and Complete Sequence of the Human KRT12 Gene
20. The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing
21. Management of Plantar Keratodermas
22. Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy
23. Expanding the Phenotypic Spectrum of Olmsted Syndrome
24. Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
25. PCQoL
26. Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting
27. Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis
28. Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients
29. Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling
30. Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy—Expanding the differential diagnosis for pachyonychia congenita
31. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
32. Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder
33. Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex
34. A Large Mutational Study in Pachyonychia Congenita
35. Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita
36. Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials
37. Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations
38. The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita
39. Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma
40. Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis
41. Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly
42. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
43. Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model
44. Development of Therapeutic siRNAs for Pachyonychia Congenita
45. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita
46. Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis
47. Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis
48. Clinical and Pathological Features of Pachyonychia Congenita
49. The Genetic Basis of Pachyonychia Congenita
50. Insights into Genotype–Phenotype Correlation in Pachyonychia Congenita from the Human Intermediate Filament Mutation Database
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