A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex

Journal of Dermatology

Volumn 29, Issue 3, 2002, Pages 136-145

  Gu, Li Hong ^a   Ichiki, Yoshiro ^a   Sato, Miki ^a   Kitajima, Yasuo ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Epidermolysis bullosa simplex; Keratin 14; Nonsense mutation

Indexed keywords

AMINO ACID; CYTOKERATIN 14; KERATIN; KERATIN 5; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN DOMAIN; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; STOP CODON; STRUCTURE ANALYSIS;

EID: 0036214506     PISSN: 03852407     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2002.tb00236.x     Document Type: Article

References (76)

1. The clinical spectrum of epidermolysis bullosa simplex
2. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simple
3. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
4. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
5. A novel K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex
6. Primers for exon-specific amplification of the KRT 5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex patients
7. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara
8. Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)
9. Donor splice site mutation in keratin 5 causes inframe removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex
10. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype
11. Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis
12. Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential
13. Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments
14. A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case
15. Expression of a truncated keratin 5 may contribute to severe palmarplantar hyperkeratosis in epidermolysis bullosa simplex patients
16. Inactivation of human keratin genes: The spectrum of mutations in the sequence of an acidic keratin pseudogene
17. Keratins
18. Different keratin polypeptides in epidermis and other epithelia of human skin: A specific cytokeratin of molecular weight 46,000 in epithelia of the pilosebaceous tract and basal cell epitheliomas
19. Changes in keratin gene expression during terminal differentiation of the keratinocyte
20. Intermediate filaments: Conformity and diversity of expression and structure
21. α-helix coiled-coils - A widespread motif in proteins
22. Structural features in the heptad substructure and longer range repeats of two-stranded alpha-fibrous proteins
23. Recent advances in the molecular basis of inherited skin diseases
24. Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
25. Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
26. Structure and antigenicity of the skin basement membrane zone
27. Intermediate filaments and disease: Mutations that cripple cell strength
28. Do the ends justify the means? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations
29. A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: Implications for diagnosis
30. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
31. A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex
32. Keratin 14 gene mutations in patients with epidermolysis bullosa simplex
33. Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method
34. Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex
35. Human keratin diseases: Hereditary fragility of specific epithelial tissues
36. A keratin 14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex
37. Epstein EH Jr: Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex-Increased severity of disease in a homozygote
38. A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex
39. Mutation analysis in the family of a Taiwanese boy with epidermolysis bullosa simplex Dowling-Meara
40. Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro
41. The roles of K5 and K14 head, tail, and R/KLLEGE domains in keratin filament assembly in vitro
42. The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines
43. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex
44. Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex
45. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
46. A mutation (Met->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex
47. Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland
48. A common keratin 5 gene mutation in epidermolysis bullosa simplex-Weber-Cockayne
49. Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5
50. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis simplex
51. K5 D328E, a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne)
52. A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: Delta E375
53. A keratin K5 mutation (Leu 463pro) in a family with the Weber-Cockayne type of epidermolysis gullosa simplex
54. Epidermolysis bullosa simplex: A keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function
55. A novel mutation in the L12 domain of keratin 5 in the K6bner variant of epidermolysis bullosa simplex
56. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized K6bner type of epidermolysis bullosa simplex
57. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
58. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex wiht mottled pigmentation
59. Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT 5 gene in further patients
60. Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation
61. A human keratin 14 'knockout': The absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein
62. A functional 'knock-out' of human keratin 14
63. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
64. Homozygous nonsense mutation in helix 2 of K14 cause severe recessive epidermolysis bullosa simplex
65. A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease
66. Phenotypic severity of epidermolysis bullosa simplex caused by a dominant missense mutation in the keratin 5 is exacerbated when combined with a silent missense mutation in another allele
67. Structure, function, and dynamics of keratin intermediate filaments
68. Peptides from the conserved ends of the rod domain of desmin disassemble intermediate filaments and reveal unexpected structural features: A circular dichroism, Fourier transform infrared, and electron microscopic study
69. A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis
70. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHbl
71. Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix
72. Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6
73. Tailless keratins assemble into regular intermediate filament in vitro
74. The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer
75. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
76. The basal keratin network of stratified squamous epithelia: Defining K15 function in the absence of K14