Unraveling the molecular mechanisms of hair and nail genodermatoses

Archives of Dermatology

Volumn 137, Issue 11, 2001, Pages 1465-1471

  Stratigos, Alexander J ^a   Baden, Howard P ^b  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; ECTODERMAL DYSPLASIA; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; HEREDITY; HUMAN; MENKES SYNDROME; MOLECULAR BIOLOGY; MOLECULAR DYNAMICS; MOLECULAR GENETICS; MONILETHRIX; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TRICHOTHIODYSTROPHY;

EID: 0035174692     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.137.11.1465     Document Type: Review

References (81)

1. Ectodermal dysplasias: Not only "skin" deep
2. Hypohidrotic ectodermal dysplasia
3. Anhidrotic ectodermal dysplasia: Predisposition to bronchial disease
4. Definite evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the common X-linked disorder
5. Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia
6. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
7. Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain
8. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
9. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
10. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
11. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors
12. The major forms of hereditary ectodermal dysplasia
13. The gene responsible for Crouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q
14. Mutations in GJB6 cause hidrotic ectodermal dysplasia
15. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
16. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
17. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
18. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
19. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
20. The distribution of the desmosomal protein, plakophilin 1 in human skin and skin tumors
21. Evidence for genetic heterogeneity in monilethrix
22. Monilethrix: An ultrastructural study
23. A gene for monilethrix is closely linked to the type II keratin gene cruster at 12q13
24. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
25. A variable monilethrix phenotype associated with a novel mutation, glu4021ys, in the helix termination motif of the type II hair keratin hHb1
26. Human keratin diseases: The increasing spectrum of disease and specificity of genotype-phenotype correlation
27. A unique case of trichorrhexis invaginata (bamboo hair)
28. A clinical and immunological study of Netherton's syndrome
29. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: Differentiation from other infantile erythrodermas and pathogenic implications
30. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
31. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
32. LEKTI, a novel 15-domain type of human serine proteinase inhibitor
33. Testing the agrin hypothesis
34. High sulfur protein deficient hair
35. What's new in trichothiodystrophy
36. Syndromes associated with trichothiodystrophy
37. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by thrichothiodystrophy and photosensitivity
38. A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy
39. Complementation studies in cells from patients affected by thrichothiodystrophy with normal or enhanced photosensitivity
40. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
41. Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes
42. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
43. The genetic basis of xeroderma pigmentosum and trichothiodystrophy syndromes
44. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect
45. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition
46. Menkes' kinky hair syndrome: An updated review
47. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
48. The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal dileucine endocytic signal
49. Long-term follow-up of 12 patients with the rate-onset variant of argininosuccinic acid ryase deficiency: No impairment of intellectual and psychomotor development during therapy
50. Characterization of the human argininosuccinate lyase gene and analysis of exon skipping
51. Atrichia with papular lesions
52. Alopecia universalis associated with a mutation in the human hairless gene
53. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
54. Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene
55. Towards defining the pathogenesis of the hairless phenotype
56. Hair on a gene string: Recent advances in understanding of molecular genetics of hair loss
57. The molecular basis of congenital atrichia in humans and mice: Mutations in the hairless gene
58. Exposing the human nude phenotype
59. Characterization of mouse and human nude genes
60. Nude mice are not hairless: A morphological study
61. Pachyonychia congenita
62. Pachyonychia congenita Jackson-Lawler type: A distinct malformation syndrome
63. Keratin 16 and keratin 17 mutations cause pachyonychia congenita
64. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2
65. Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar keratoderma
66. Keratin 17 mutations cause either steatocystoma multiplex or pachonychia congenita type 2
67. Pachonychia congenita: Mutations and clinical presentations
68. Delayed onset of pachonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
69. Triangular lunulae: A clue to nail-patella syndrome
70. Nephropathy of nail-patella syndrome
71. Fine mapping of the nail-patella syndrome locus at 9q34
72. The LIM protein is a modular protein-binding interface
73. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
74. Limb and kidney defects in Lmxlb mutant mice suggest an involvement of LMX1B in human nail patella syndrome
75. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
76. The gene for hypertrichosis of Marie Unna maps between D8S258 and D8S298: Exclusion of the hr gene by cDNA and genomic sequencing
77. An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family
78. Keratosis follicularis spinulosa decalvans: Confirmation of linkage to Xp22.13-p22.2
79. Alopecia areata
80. The inheritance of common baldness: Two B or not two B?