Gene mutations, great expectations

Clinics in Dermatology

Volumn 19, Issue 1, 2001, Pages 59-64

  McGrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; DNA; IMMUNOSUPPRESSIVE AGENT; MERCAPTOPURINE;

BONE MARROW SUPPRESSION; BONE MARROW TOXICITY; DISEASE CLASSIFICATION; DRUG METABOLISM; DRUG MONITORING; ECZEMA; GENE MUTATION; GENE THERAPY; GENERAL ASPECTS OF DISEASE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOME; HUMAN; IMMUNOPATHOLOGY; MOLECULAR BIOLOGY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SKIN DISEASE; SKIN INFLAMMATION;

DERMATOLOGY; HUMANS; MUTATION; SKIN DISEASES; UNITED STATES;

EID: 0035023822     PISSN: 0738081X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0738-081X(00)00213-3     Document Type: Review

References (62)

1. Hattori M., Fujiyama A., Taylor T.D., et al. The DNA sequence of human chromosome 21. Nature. 405:2000;311-319.
2. Dunham I., Shimizu N., Roe B.A., et al. The DNA sequence of human chromosome 22. Nature. 402:1999;489-495.
3. The MHC Sequencing Consortium. Complete sequence and gene map of a human major histocompatibility complex. Nature. 401:1999;921-923.
4. Antonarakis S.E., McKusick V.A. OMIM passes the 1,000-disease-gene mark. Nat Genet. 25:2000;11.
5. Bonifas J.M., Rothman A.L., Epstein E.H. Epidermolysis bullosa simplex Evidence in two families for keratin gene abnormalities . Science. 254:1991;1202-1205.
6. Coulombe P.A., Huwon M.E., Letai A., et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients Genetic and functional analyses . Cell. 66:1991;1201-1211.
7. Coulombe P.A., Hutton M.E., Vassar R., et al. A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J Cell Biol. 115:1991;1661-1674.
8. Ishida-Yamamoto A., McGrath J.A., Chapman S.J., et al. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol. 97:1991;959-968.
9. Vassar R., Coulombe P.A., Degenstein L., et al. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell. 64:1991;365-380.
10. Irvine A.D., McLean W.H. Human keratin diseases The increasing spectrum of disease and subtlety of the phenotype-genotype correlation . Br J Dermatol. 140:1999;815-828.
11. Christiano A.M., Greenspan D.S., Hoffman G.G., et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa bullosa. Nat Genet. 4:1993;62-66.
12. Hilal L., Rochat A., Duquesnoy P., et al. A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet. 5:1993;287-293.
13. Whittock N.V., Ashton G.H., Mohammedi R., et al. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol. 113:1999;673-686.
14. Hu Z., Bonifas J.M., Beech J., et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 24:2000;61-65.
15. 2+ pump, cause Darier disease. Nat Genet. 21:1999;271-277.
16. Bergen A.A., Plomp A.S., Schuurman E.J., et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 25:2000;228-231.
17. Le Saux O., Urban Z., Tschuch C., et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 25:2000;223-227.
18. Ringpfeil F., Lebwohl M.G., Christiano A.M., et al. Pseudoxanthoma elasticum Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter . Proc Natl Acad Sci USA. 97:2000;6001-6006.
19. Fine J.D., Eady R.A., Bauer E.A., et al. Revised classification system for inherited epidermolysis bullosa Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa . J Am Acad Dermatol. 42:2000;1051-1066.
20. Hashimoto I., Kon A., Tamai K., et al. Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa a new dominant or mitis recessive mutation? Exp Dermatol. 8:1999;140-142.
21. Jarvikallio A., Pulkkinen L., Uitto J. Molecular basis of dystrophic epidermolysis bullosa Mutations in the type VII collagen gene (COL7A1) . Hum Mutat. 10:1997;338-347.
22. Huber M., Rettler I., Bernasconi K., et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 267:1995;525-528.
23. Russell L.J., DiGiovanna J.J., Rogers G.R., et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet. 9:1995;279-283.
24. Fischer J., Faure A., Bouadjar B., et al. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet. 66:2000;904-913.
25. Parmentier L., Clepet C., Boughdene-Stambouli O., et al. Lamellar ichthyosis, further narrowing, physical and expression mapping of the chromosome 2 candidate locus. Eur J Hum Genet. 7:1999;77-87.
26. Marinkovich M.P. Update on inherited bullous dermatoses. Dermatol Clin. 17:1999;473-485.
27. Kere J., Srivastava A.K., Montonen O., et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 13:1996;409-416.
28. Monreal A.W., Ferguson B.M., Headon D.J., et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 22:1999;366-369.
29. Chavanas S., Bodemer C., Rochat A., et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. 25:2000;141-142.
30. Toomes C., James J., Wood A.J., et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet. 23:1999;421-424.
31. Ahmad W., Faiqaz ul Haque M., Brancolini V., et al. Alopecia universalis associated with a mutation in the human hairless gene. Science. 279:1998;720-724.
32. Ahmad W., Panteleyev A.A., Christiano A.M. The molecular basis of congenitial atrichia in humans and mice Mutations in the hairless gene . J Invest Dermatol Symp Proc. 4:1999;240-243.
33. Gat U., DasGupta R., Degenstein L., et al. De novo hair follicle morphogenesis and hair tumour in mice expressing a truncated beta-catenin in skin. Cell. 95:1998;605-614.
34. Capon F., Semprini S., Dallapiccola B., et al. Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21. Am J Hum Genet. 65:1999;1798-1800.
35. Enlund F., Samuelsson L., Enerback C., et al. Psoriasis-susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet. 7:1999;783-790.
36. Samuelsson L., Enlund F., Torinsson A., et al. A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach. Hum Genet. 105:1999;523-529.
37. Balendran N., Clough R.L., Arguello J.R., et al. Characterization of the major susceptibility region for psoriasis at chromosome 6p21.3. J Invest Dermatol. 113:1999;322-328.
38. Nair R.P., Stuart P., Henseler T., et al. Localization of psoriasis-susceptibility locus PSOR1 to a 60-kb interval telomeric to HLA-C. Am J Hum Genet. 66:2000;1833-1844.
39. Enerback C., Enlund F., Inerot A., et al. S Gene (corneodesmosin) diversity and its relationship to psoriasis; high content of cSNP in the HLA-linked S gene. J Invest Dermatol. 114:2000;1158-1163.
40. Johnson R.L., Rothman A.L., Xie J., et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 272:1996;1668-1671.
41. Evans T., Boonchai W., Shanley S., et al. The spectrum of patched mutations in a collection of Australian basal cell carcinomas. Hum Mutat. 16:2000;43-48.
42. Booth D.R. The hedgehog signalling pathway and its role in basal cell carcinoma. Cancer Metastasis Rev. 18:1999;261-284.
43. Green J., Leigh I.M., Poulsom R., et al. Basal cell carcinoma development is associated with induction of the expression of the transcription factor Gli-1. Br J Dermatol. 139:1998;911-915.
44. Muller B., Basler K. The repressor and activator forms of Cubitus interruptus control Hedgehogtarget genes through common generic Gli-binding sites. Development. 127:2000;2999-3007.
45. Newton Bishop J.A., Harland M., Bennett D.C., et al. Mutation testing in melanoma families INK4A, CDK4 and INK4D . Br J Cancer. 80:1999;295-300.
46. Lennard L. Therapeutic drug monitoring of antimetabolic cytotoxic drugs. Br J Clin Pharmacol. 47:1999;131-143.
47. Rodeck C.H., Eady R.A., Gosden C.M. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet. i:1980;949-952.
48. Eady R.A., McGrath J.A., Genodermatoses. Rodeck C.H., Whittle M.J. Fetal Medicine. 1999;545-552 Churchill Livingstone, London.
49. Christiano A.M., LaForgia S., Paller A.S., et al. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med. 2:1996;59-76.
50. Christiano A.M., Pulkkinen L., McGrath J.A., et al. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn. 17:1997;343-354.
51. McGrath J.A., Handyside A.H. Preimplantation genetic diagnosis of severe inherited skin diseases. Exp Dermatol. 7:1998;65-72.
52. Choate K.A., Khavari P.A. Direct cutaneous gene delivery in a human genetic skin disease. Hum Gene Therapy. 8:1997;1659-1665.
53. Dellambra E., Vailly J., Pellegrini G., et al. Corrective transduction of human epidermal stem cells in laminin-5 deficient junctional epidermolysis bullosa. Hum Gene Therapy. 99:1998;1359-1379.
54. Deng H., Lin Q., Khavari P.A. Sustainable cutaneous gene delivery. Nat Biotechnol. 15:1997;1388-1391.
55. Seitz C.S., Giudice G.J., Balding S.D., et al. BP180 gene delivery in junctional epidermolysis bullosa. Gene Therapy. 6:1999;42-47.
56. Vailly J., Gagnoux-Palacios L., Dell'Ambra E., et al. Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembley of hemidesmosomes in reconstructed epithelia. Gene Therapy. 5:1998;1322-1332.
57. Dokal I. Dyskeratosis congenita recent advances and future directions . J Pediatr Hematol Oncol. 21:1999;344-350.
58. Knight S.W., Heiss N.S., Vulliamy T.J., et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet. 65:1999;50-58.
59. Barton-Davis E.R., Cordier L., Shoturma D.I., et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest. 104:1999;375-381.
60. Shah M., Foreman D.M., Ferguson M.W. Control of scarring in adult wounds by neutralising antibody to transforming growth factor beta. Lancet. 339:1992;213-214.
61. Shah M., Revis D., Herrick S., et al. Role of elevated plasma transforming growth factor beta 1 levels in wound healing. Am J Pathol. 154:1999;1115-1124.
62. Ellis I.R., Schor S.L. Differential effects of TGF-beta 1 on hyaluronan synthesis by fetal and adult skin fibroblasts Implications for cell migration and wound healing . Exp Cell Res. 228:1996;326-333.