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121 results on '"Keratins genetics"'

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1. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14 .

2. Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.

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4. Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex.

6. Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14.

7. A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex.

9. Disease-associated keratin mutations reduce traction forces and compromise adhesion and collective migration.

10. Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.

11. Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide.

12. MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex.

13. Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.

14. Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex.

17. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

19. Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.

20. Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.

21. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

22. Tunel positive keratinocytes in keratin disease.

23. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.

25. Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.

26. Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.

27. A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire.

31. Inherited defects in keratins.

32. Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes.

33. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.

34. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.

35. Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases.

37. Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments.

38. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.

39. Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits.

41. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

42. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.

43. A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.

45. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.

46. Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.

47. Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.

48. Epidermolysis bullosa simplex in Israel: clinical and genetic features.

49. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

50. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.