443 results on '"McLean, W. H. Irwin"'
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2. Improved annotation of 3-prime untranslated regions and complex loci by combination of strand-specific Direct RNA Sequencing, RNA-seq and ESTs
3. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis
4. Genodermatoses: Inherited Diseases of the Skin
5. Genetics of Hidradenitis Suppurativa
6. Keratin 6b variant p.Gly499Ser reported in delayed‐onset pachyonychia congenita is a non‐pathogenic polymorphism
7. Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency
8. Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect
9. Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy
10. Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis
11. A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris
12. Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
13. The burden of disease associated with filaggrin mutations: A population-based, longitudinal birth cohort study
14. Filaggrin null mutations and childhood atopic eczema: A population-based case-control study
15. Intermediate filament proteins and their associated diseases
16. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
17. La génétique de l’hidradénite suppurée
18. Development of a Corneal Bioluminescence Mouse for Real-Time In Vivo Evaluation of Gene Therapies
19. The Genetic Basis of Pachyonychia Congenita
20. Insights into Genotype–Phenotype Correlation in Pachyonychia Congenita from the Human Intermediate Filament Mutation Database
21. Filaggrin null mutations are associated with increased asthma severity in children and young adults
22. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
23. SiRNA-Mediated Selective Inhibition of Mutant Keratin mRNAs Responsible for the Skin Disorder Pachyonychia Congenita
24. Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with "Tonotubular" Keratin
25. Preface to Pachyonychia Congenita Symposium Proceedings
26. Clinical and Pathological Features of Pachyonychia Congenita
27. Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae
28. Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome
29. Novel Mechanism of Revertant Mosaicism in Dowling–Meara Epidermolysis Bullosa Simplex
30. Clouston Syndrome Can Mimic Pachyonychia Congenita
31. An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
32. Epidermolysis Bullosa Simplex in Israel: Clinical and Genetic Features
33. 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
34. Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1
35. Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
36. Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma
37. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)
38. A Novel Connexin 30 Mutation in Clouston Syndrome
39. Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome
40. Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita
41. Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2
42. The Gene for Naegeli-Franceschetti-Jadassohn Syndrome Maps to 17q21
43. A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus
44. Discovery of Soft-Drug Topical Tool Modulators of Sphingosine-1-phosphate Receptor 1 (S1PR1)
45. Discovery of super soft-drug modulators of sphingosine-1-phosphate receptor 1
46. Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex
47. K15 Expression Implies Lateral Differentiation within Stratified Epithelial Basal Cells
48. Discovery of Soft-Drug Topical Tool Modulators of Sphingosine-1-phosphate Receptor 1 (S1PR1)
49. The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing
50. Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1
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