Genetic hair disorders;Genetisch bedingte haarerkrankungen

Hautarzt

Volumn 54, Issue 8, 2003, Pages 723-731

  Wiederholt, T ^b   Poblete Gutierrez P ^b   Frank, J ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b NONE

Author keywords

Atrichia; Candidate gene; Genetic hair disease; Hair loss; Hypertrichosis

Indexed keywords

ARTICLE; DISEASE ASSOCIATION; GENETIC DISORDER; GENODERMATOSIS; HAIR DISEASE; HAIR GROWTH; HAIR LOSS; HUMAN; HYPERTRICHOSIS; HYPOTRICHOSIS; MOLECULAR GENETICS; MOLECULAR MECHANICS; PATHOGENESIS;

ADULT; ALOPECIA; CHILD; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAIR; HAIR DISEASES; HIRSUTISM; HUMANS; MALE; MOLECULAR BIOLOGY; SYNDROME;

EID: 0043022090     PISSN: 00178470     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00105-003-0564-8     Document Type: Article

References (59)

1. Sundberg JP, King LE Jr (1996) Mouse mutations as animal models and biochemical tools for dermatological research. J Invest Dermatol 106:368-376
2. Aita VM, Christiano AM, Gilliam TC (1999) Mapping complex traits in diseases of the hair and skin. Exp Dermatol 8:439-452
3. Happle R (2001) Genetic hair loss. Clin Dermatol 19:121-128
4. Online Mendelian Inheritance in Men (OMIM) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
5. Matias JR, Orentreich N (1988) The effect of testosterone, cyproterone acetate, and minoxidil on hair loss in the androchronogenetic alopecia mouse. Clin Dermatol 6:169-176
6. Hoffmann R (2002) Male androgenetic alopecia. Clin Exp Dermatol 27:373-382
7. Michie HJ, Jahoda CA, Oliver RF, Johnson BE (1991) The DEBR rat: an animal model of human alopecia areata. Br J Dermatol 125:94-100
8. Sundberg JP, Cordy WR, King LE Jr (1994) Alopecia areata in aging C3H/HeJ mice. J Invest Dermatol 102:847-856
9. van der Steen P, Traupe H, Happle R et al. (1992) The genetic risk for alopecia areata in first degree relatives of severely affected patients: an estimate. Acta Derm Venerol 72:373-375
10. Garcia-Cruz D, Figuera LE, Cantu JM (2002) Inherited hypertrichoses. Clin Genet 61:321-329
11. Macías-Flores MA, García-Cruz D, Rivera H (1984) A new form of hypertrichosis inherited as an X-linked dominant trait. Hum Genet 66:66
12. Baumeister FAM, Egger J, Schildhauer MT, Stengel-Rutkowski S (1993) Ambras syndrome: delineation ofa unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8)(p11.2;q22). Clin Genet 44:121-128
13. Balducci R, Toscano V, Tedeschi B et al. (1998) A new case of Ambras syndrome associated with a paracentric inversion(8)(q12;q22). Clin Genet S3:466-468
14. Tadin M, Braverman E, Cianfarani S et al. (2001) Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet 102:100-104
15. Felgenhauer WR (1969) Hypertrichosis lanuginosa universalis. J Genet Hum 17:1-44
16. Beighton PH (1970) Congenital hypertrichosis lanuginosa. Arch Derm 101:669-672
17. Poblete Gutierrez P, Kunitz O, Wolff C, Frank J (2001) Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge. Skin Pharmacol Appl Skin Physiol 14:393-400
18. Ahmad M, Abbas H, Haque S (1993) Alopecia universalis as a single abnormality in an inbred Pakistani kindred. Am J Med Genet 46:369-371
19. Sundberg JP, Price VH, King LE Jr (1999) The "hairless" gene in mouse and man. Arch Dermatol 13S:718-720
20. Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM (2002) Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol 118:887-890
21. Panteleyev AA, Paus R, Ahmad W et al. (1998) Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans. Exp Dermatol 7:249-267
22. Brooke HC (1924) Hairless mice. J Hered 17:173-174
23. Cachon-Gonzalez MB, Fenner S, Coffin JM et al. (1994) Structure and expression of the hairless gene of mice. Proc Natl Acad Sci USA 91:7717-7721
24. Ahmad W, Faiyaz ul Haque M, Brancolini V et al. (1998) Alopecia universalis associated with a mutation in the human hairless gene. Science 279:720-724
25. Ahmad W, Panteleyev AA, Christiano AM (1999) The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene. J Investig Dermatol Symp Proc 4:240-243
26. Kruse R, Cichon S, Anker M et al. (1999) Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia. J Invest Dermatol 113:954-959
27. Djabali K, Aita VM, Christiano AM (2001) Hairless is translocated to the nucleus via a novel bipartite nuclear localization signal and is associated with the nuclear matrix. J Cell Sci 114:367-376
28. Liberman UA, Samuel R, Halabe A et al. (1980) End-organ resistance to 1,25-dihydroxycholecalciferol. Lancet 1:504-506
29. Miller J, Djabali K, Chen T et al. (2001) Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J Invest Dermatol 117:612-617
30. Kljuic A, Bazzi H, Sundberg JP et al. (2003) Desmoglein 4 in hair follicle differentiation and epidermal adhesion. Evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113:249-260
31. Montagutelli X, Hogan ME, Aubin G et al. (1996) Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol 107:20-25
32. Sundberg JP, Boggess D, Bascom C et al. (2000) Lanceolate hair-J (lahJ): a mouse model for human hair disorders. Exp Dermatol 9:206-218
33. Pignata C, Fiore M, Guzzetta V et al. (1996) Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet 65:167-170
34. Nehls M, Pfeifer D, Schorpp M et al. (1994) New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature 372:103-107
35. Segre JA, Nemhauser JL, Taylor BA et al. (1995) Positional cloning of the nude locus: genetic, physical, and transcription maps of the region and mutations in the mouse and rat. Genomics 28:549-559
36. Schorpp M, Hofmann M, Dear TN, Boehm T (1997) Characterization of mouse and human nude genes. Immunogenetics 46:509-515
37. Frank J, Pignata C, Panteleyev AA et al. (1999) Exposing the human nude phenotype. Nature 398:473-474
38. Smith DL, Smith JG, Wong SW, deshazo RD (1995) Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immun 95:116-123
39. Chavanas S, Garner C, Bodemer C et al. (2000) Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 66:914-921
40. Magert HJ, Standker L, Kreutzmann P et al.(1999) LEKTI, a novel 15-domain type of human serine proteinase inhibitor. J Biol Chem 274:21499-21502
41. Chavanas S, Bodemer C, Rochat A et al. (2000). Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25:141-142
42. Sprecher E, Chavanas S, DiGiovanna JJ et al. (2001) The spectrum of pathogenic mutations in SPINKS in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 117:179-187
43. Itin PH, Sarasin A, Pittelkow MR (2001) Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44:891-920
44. de Boer J, Andressoo JO, deWit J et al. (2002) Premature aging in mice deficient in DNA repair and transcription. Science 296:1276-1279
45. Flejter WL, McDaniel LD, Johns D et al. (1992) Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. Proc Nat Acad Sci 89:261-265
46. Vermeulen W, Scott RJ, Rodgers S et al. (1994) Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.Am J Hum Genet 54;191-200
47. Liu J, Akoulitchev S, Weber A et al. Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum. Cell 104:353-363
48. Berneburg M, Krutmann J (2003) Xeroderma pigmentosum und verwandte Syndrome. Hautarzt 54:33-40
49. Bentley-Phillips B (1990) Monilethrix and Pseudomonilethrix. In: Orfanos CE, Happle R (eds) Hair and hair diseases. Springer, Berlin Heidelberg New York Tokyo, pp 423-442
50. Healy E, Holmes SC, Belgaid CE et al. (1995) A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. Hum Mol Genet 4:2399-2402
51. Stevens HP, Kelsell DP, Bryant SP et al. (1996) Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. J Invest Dermatol 106:795-797
52. Winter H, Rogers MA, Langbein L et al. (1997) Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nature Genet 16:372-374
53. Winter H, Labreze C, Chapalain V et al. (1998) A variable monilethrix phenotype associated with a novel mutation, glu402lys, in the helix termination motif of the type II hair keratin hHb1. J Invest Dermatol 11:169-172
54. Korge BP, Hamm H, Jury CS et al. (1999) Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol 113:607-612
55. Priolo M, Silengo M, Lerone M, Ravazzolo R (2000) Ectodermal dysplasias: not only "skin" deep. Clin Genet 58:415-430
56. Hassed SJ, Kincannon JM, Arnold GL (1996) Clouston syndrome: an ectodermal dysplasia without significant dental findings. Am J Med Genet 61:274-276
57. Kibar Z, Der Kaloustian VM, Brais B et al. (1996) The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum Mol Genet 5:543-547
58. Radhakrishna U, Blouin JL, Mehenni H et al. (1997) The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. Am J Med Genet 71:80-86
59. Lamartine J, Munhoz Essenfelder G, Kibar Z et al. (2000) Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 26:142-144