Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis

British Journal of Dermatology

Volumn 161, Issue 4, 2009, Pages 944-947

  Babilas, P ^a   Fiebig, B S ^a   Aslanidis, C ^a   Hansen, J ^a   Rocken C ^a   Schroeder, J ^b   Schmitz, G ^a   Weber, B H F ^a   Landthaler, M ^a   Vogt, T ^a  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

Author keywords

Amyloidosis; Chromosome 5; Genetic linkage; Heterozygous missense mutation; OSMR gene

Indexed keywords

ONCOSTATIN M RECEPTOR;

ARTICLE; CAUCASIAN; CONTROLLED STUDY; DNA DETERMINATION; FAMILIAL AMYLOIDOSIS; FAMILIAL PRIMARY CUTANEOUS AMYLOIDOSIS; GENE IDENTIFICATION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN BIOPSY;

AMYLOIDOSIS, FAMILIAL; FEMALE; HUMANS; MUTATION, MISSENSE; ONCOSTATIN M RECEPTOR BETA SUBUNIT; PEDIGREE;

EID: 70349318665     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09237.x     Document Type: Article

References (26)

1. Breathnach SM, Hintner H. Amyloid P-component and the skin. Clin Dermatol 1990 8 : 46 54.
2. Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003 349 : 583 596.
3. Chang YT, Liu HN, Wang WJ et al. A study of cytokeratin profiles in localized cutaneous amyloids. Arch Dermatol Res 2004 296 : 83 8.
4. Abels C, Karrer S, Landthaler M et al. [Truss-induced macular amyloidosis]. Hautarzt 2001 52 : 970 973.
5. Hintner H, Stossl H, Hopfl R et al. [Amyloid K]. Hautarzt 1988 39 : 419 425.
6. Kumakiri M, Hashimoto K. Histogenesis of primary localized cutaneous amyloidosis: sequential change of epidermal keratinocytes to amyloid via filamentous degeneration. J Invest Dermatol 1979 73 : 150 162.
7. Gagel RF, Levy ML, Donovan DT et al. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med 1989 111 : 802 806.
8. Pacini F, Fugazzola L, Bevilacqua G et al. Multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis: description of a new family. J Endocrinol Invest 1993 16 : 295 296.
9. Robinson MF, Furst EJ, Nunziata V et al. Characterization of the clinical features of five families with hereditary primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2. Henry Ford Hosp Med J 1992 40 : 249 252.
10. Hofstra RM, Sijmons RH, Stelwagen T et al. RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. J Invest Dermatol 1996 107 : 215 218.
11. Rajagopalan K, Tay CH. Familial lichen amyloidosis. Report of 19 cases in 4 generations of a Chinese family in Malaysia. Br J Dermatol 1972 87 : 123 129.
12. Arita K, South AP, Hans-Filho G et al. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet 2008 82 : 73 80.
13. Lee DD, Huang JY, Wong CK et al. Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. J Invest Dermatol 1996 107 : 30 3.
14. Lee DD, Lin MW, Chen IC et al. Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. Br J Dermatol 2006 155 : 1201 1208.
15. Sagher F, Shanon J. Amyloidosis cutis. Familial occurrence in three generations. Arch Dermatol 1963 87 : 171 175.
16. Ozaki M. Familial lichen amyloidosis. Int J Dermatol 1984 23 : 190 193.
17. Hartshorne ST. Familial primary cutaneous amyloidosis in a South African family. Clin Exp Dermatol 1999 24 : 438 442.
18. Vasily DB, Bhatia SG, Uhlin SR. Familial primary cutaneous amyloidosis. Clinical, genetic, and immunofluorescent studies. Arch Dermatol 1978 114 : 1173 1176.
19. Newton JA, Jagjivan A, Bhogal B et al. Familial primary cutaneous amyloidosis. Br J Dermatol 1985 112 : 201 208.
20. Kurth I, Horsten U, Pflanz S et al. Importance of the membrane-proximal extracellular domains for activation of the signal transducer glycoprotein 130. J Immunol 2000 164 : 273 282.
21. Mosley B, De Imus C, Friend D et al. Dual oncostatin M (OSM) receptors. Cloning and characterization of an alternative signaling subunit conferring OSM-specific receptor activation. J Biol Chem 1996 271 : 32635 32643.
22. Dillon SR, Sprecher C, Hammond A et al. Interleukin 31, a cytokine produced by activated T cells, induces dermatitis in mice. Nat Immunol 2004 5 : 752 760.
23. Boniface K, Diveu C, Morel F et al. Oncostatin M secreted by skin infiltrating T lymphocytes is a potent keratinocyte activator involved in skin inflammation. J Immunol 2007 178 : 4615 4622.
24. Finelt N, Gazel A, Gorelick S et al. Transcriptional responses of human epidermal keratinocytes to oncostatin-M. Cytokine 2005 31 : 305 313.
25. Richards CD, Brown TJ, Shoyab M et al. Recombinant oncostatin M stimulates the production of acute phase proteins in HepG2 cells and rat primary hepatocytes in vitro. J Immunol 1992 148 : 1731 1736.
26. Heinrich PC, Behrmann I, Haan S et al. Principles of interleukin (IL)-6-type cytokine signalling and its regulation. Biochem J 2003 374 : 1 20.