메뉴 건너뛰기




Volumn 8, Issue 6, 2000, Pages 443-448

An autosomal dominant form of hereditary hypotrichosis Simplex maps to 18p11.32-p11.23 in an Italian family

Author keywords

Autosomal dominant; Chromosome locus 18p11.32 p11.23; Hereditary hypotrichosis simplex; Isolated hair abnormality

Indexed keywords

MICROSATELLITE DNA;

EID: 0034123513     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200506     Document Type: Article
Times cited : (32)

References (30)
  • 1
    • 85046111718 scopus 로고
    • X-linked recessive inheritance in a family with isolated congenital alopecia
    • Anzai H, Shimizu H, Nishikawa T: X-linked recessive inheritance in a family with isolated congenital alopecia. Lancet 1991; 347: 337-338.
    • (1991) Lancet , vol.347 , pp. 337-338
    • Anzai, H.1    Shimizu, H.2    Nishikawa, T.3
  • 2
    • 7344229369 scopus 로고    scopus 로고
    • Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia
    • Cichon S, Anker M, Vogt IR et al: Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet 1998; 7: 1671-1679.
    • (1998) Hum Mol Genet , vol.7 , pp. 1671-1679
    • Cichon, S.1    Anker, M.2    Vogt, I.R.3
  • 3
    • 9344250077 scopus 로고    scopus 로고
    • X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by a mutation in a novel transmembrane protein
    • Kere J, Srivastava AK, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by a mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-416.
    • (1996) Nat Genet , vol.13 , pp. 409-416
    • Kere, J.1    Srivastava, A.K.2    Montonen, O.3
  • 4
    • 0025734237 scopus 로고
    • Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations
    • Obsen HH, Clemmensen OJ, Brandrup F: Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations. Acta Dermato-Venereologica 1991; 71: 349-351.
    • (1991) Acta Dermato-Venereologica , vol.71 , pp. 349-351
    • Obsen, H.H.1    Clemmensen, O.J.2    Brandrup, F.3
  • 5
    • 0030911627 scopus 로고    scopus 로고
    • The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
    • Radhakrishna U, Blouin JL, Mehenni H et al: 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 1997; 71: 80-86.
    • (1997) Am J Med Genet , vol.71 , pp. 80-86
    • Radhakrishna, U.1    Blouin, J.L.2    Mehenni, H.3
  • 7
    • 17344370417 scopus 로고    scopus 로고
    • A gene for universal congenital alopecia maps to chromosome 8p21-22
    • Nöthen MM, Cichon S, Vogt IR et al: A gene for universal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 1998; 62: 386-390.
    • (1998) Am J Hum Genet , vol.62 , pp. 386-390
    • Nöthen, M.M.1    Cichon, S.2    Vogt, I.R.3
  • 8
    • 0032811085 scopus 로고    scopus 로고
    • Mutations in the human homologue of mouse d1 cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
    • Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J: Mutations in the human homologue of mouse d1 cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999; 22: 366-369.
    • (1999) Nat Genet , vol.22 , pp. 366-369
    • Monreal, A.W.1    Ferguson, B.M.2    Headon, D.J.3    Street, S.L.4    Overbeek, P.A.5    Zonana, J.6
  • 9
    • 0031468356 scopus 로고    scopus 로고
    • A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
    • Winter H, Rogers MA, Gebhardt M et al: A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 1997; 101: 165-169.
    • (1997) Hum Genet , vol.101 , pp. 165-169
    • Winter, H.1    Rogers, M.A.2    Gebhardt, M.3
  • 10
    • 0030747138 scopus 로고    scopus 로고
    • Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
    • Winter H, Rogers MA, Langbein L et al: Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997; 16: 372-374.
    • (1997) Nat Genet , vol.16 , pp. 372-374
    • Winter, H.1    Rogers, M.A.2    Langbein, L.3
  • 11
    • 6844265562 scopus 로고    scopus 로고
    • Alopecia universalis associated with a mutation in the human hairless gene
    • Ahmad W, Faiyaz ul Haque M, Brancolini V et al. Alopecia universalis associated with a mutation in the human hairless gene. Science 1998; 279: 720-724.
    • (1998) Science , vol.279 , pp. 720-724
    • Ahmad, W.1    Faiyaz Ul Haque, M.2    Brancolini, V.3
  • 12
    • 0032231885 scopus 로고    scopus 로고
    • A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
    • Ahmad W, Irvine AD, Lam H et al: A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet 1998; 63: 984-991.
    • (1998) Am J Hum Genet , vol.63 , pp. 984-991
    • Ahmad, W.1    Irvine, A.D.2    Lam, H.3
  • 13
    • 0033535507 scopus 로고    scopus 로고
    • Exposing the human nude phenotype
    • Frank J, Pignata C, Panteleyev AA et al: Exposing the human nude phenotype. Nature 1999; 398: 473-474.
    • (1999) Nature , vol.398 , pp. 473-474
    • Frank, J.1    Pignata, C.2    Panteleyev, A.A.3
  • 14
    • 0015173386 scopus 로고
    • Hereditary trichodysplasia: Maria Unna's hypotrichosis
    • Solomon LM, Esterly NB, Medenica M: Hereditary trichodysplasia: Maria Unna's hypotrichosis. J Invest Dermatol 1971; 57: 389-400.
    • (1971) J Invest Dermatol , vol.57 , pp. 389-400
    • Solomon, L.M.1    Esterly, N.B.2    Medenica, M.3
  • 15
    • 0016337743 scopus 로고
    • Hereditary hypotrichosis simplex of the scalp
    • Toribio J, Quinones PA: Hereditary hypotrichosis simplex of the scalp. Brit J Dermatol 1974; 91: 687-696.
    • (1974) Brit J Dermatol , vol.91 , pp. 687-696
    • Toribio, J.1    Quinones, P.A.2
  • 17
    • 17344372330 scopus 로고    scopus 로고
    • The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36
    • Lubianca Neto JF, Lu L, Eavey RD et al: The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am J Hum Genet 1998; 62: 1107-1112.
    • (1998) Am J Hum Genet , vol.62 , pp. 1107-1112
    • Lubianca Neto, J.F.1    Lu, L.2    Eavey, R.D.3
  • 18
    • 0343568592 scopus 로고
    • Linkage analysis and regional assignment of keratosis follicularis spinulosa decalvans to Xp22.2-p21.2
    • Oosterwijk JC, van Zandvoort P, Nelen M, van Oost B: Linkage analysis and regional assignment of keratosis follicularis spinulosa decalvans to Xp22.2-p21.2. Cytogenet Cell Genet 1991; 58: 2078.
    • (1991) Cytogenet Cell Genet , vol.58 , pp. 2078
    • Oosterwijk, J.C.1    Van Zandvoort, P.2    Nelen, M.3    Van Oost, B.4
  • 19
    • 0026652099 scopus 로고
    • Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel
    • Traupe H, van den Ouweland AMW, van Oost BA et al: Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. Genomics 1992; 13: 481-483.
    • (1992) Genomics , vol.13 , pp. 481-483
    • Traupe, H.1    Van Den Ouweland, A.M.W.2    Van Oost, B.A.3
  • 20
    • 0023753292 scopus 로고
    • X-linked hypohidritic ectodermal dysplasia: Localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnostics
    • Zonana J, Clarke A, Sarfarazi M et al: X-linked hypohidritic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnostics. Am J Hum Genet 1988; 43: 75-85.
    • (1988) Am J Hum Genet , vol.43 , pp. 75-85
    • Zonana, J.1    Clarke, A.2    Sarfarazi, M.3
  • 21
    • 0001108518 scopus 로고
    • Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita
    • Uchida IA, McRae KN, Wang HC, Ray M: Familial short arm deficiency of chromosome 18 concomitant with arhinencephaly and alopecia congenita. Am J Hum Genet 1965; 17: 410-419.
    • (1965) Am J Hum Genet , vol.17 , pp. 410-419
    • Uchida, I.A.1    McRae, K.N.2    Wang, H.C.3    Ray, M.4
  • 22
    • 0014390205 scopus 로고
    • The 18p- syndrome. Report of two cases
    • Jacobsen P, Mikkelsen M: The 18p- syndrome. Report of two cases. Ann Genet 1968; 11: 211-216.
    • (1968) Ann Genet , vol.11 , pp. 211-216
    • Jacobsen, P.1    Mikkelsen, M.2
  • 23
    • 0008651993 scopus 로고
    • 18p- syndrome: An unusual etiology for familial delayed development with mild dysmorphia
    • Harris CJ, Israel JN, Okada LE: 18p- syndrome: an unusual etiology for familial delayed development with mild dysmorphia. Am J Hum Genet 1983; 35: 94A.
    • (1983) Am J Hum Genet , vol.35
    • Harris, C.J.1    Israel, J.N.2    Okada, L.E.3
  • 25
    • 0031723522 scopus 로고    scopus 로고
    • Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene
    • Zlotogorski A, Ahmad W, Christiano AM: Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. Hum Genet 1998; 103: 400-404.
    • (1998) Hum Genet , vol.103 , pp. 400-404
    • Zlotogorski, A.1    Ahmad, W.2    Christiano, A.M.3
  • 26
    • 0033364733 scopus 로고    scopus 로고
    • Identification of a genetic defect in the hairless gene in atrichia with papular lesions: Evidence for phenotypic heterogeneity among inherited atrichias
    • Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N: Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. Am J Hum Genet 1999; 64: 1323-1329.
    • (1999) Am J Hum Genet , vol.64 , pp. 1323-1329
    • Sprecher, E.1    Bergman, R.2    Szargel, R.3    Friedman-Birnbaum, R.4    Cohen, N.5
  • 27
    • 0031571164 scopus 로고    scopus 로고
    • The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (chr17) and Zfp161-rs1 (X chr)
    • Sobek-Klocke I, Disque-Kochem C, Ronsiek M et al: The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (chr17) and Zfp161-rs1 (X chr). Genomics 1997; 43: 156-164.
    • (1997) Genomics , vol.43 , pp. 156-164
    • Sobek-Klocke, I.1    Disque-Kochem, C.2    Ronsiek, M.3
  • 28
    • 0030770713 scopus 로고    scopus 로고
    • Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in central Europe
    • Leube B, Hendgen T, Kessler KR, Knapp M, Benecke R, Auburger G: Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in central Europe. Am J Med Genet 1997; 74: 529-5.32.
    • (1997) Am J Med Genet , vol.74 , pp. 529-532
    • Leube, B.1    Hendgen, T.2    Kessler, K.R.3    Knapp, M.4    Benecke, R.5    Auburger, G.6
  • 29
    • 0031442053 scopus 로고    scopus 로고
    • Exocrine gland dysfunction in MC5-R-deficient mice: Evidence for coordinated regulation of exocrine gland function by melanocortin peptides
    • Chen W, Kelly MA, Opitz-Araya X, Thomas RE, Low MJ, Cone RD: Exocrine gland dysfunction in MC5-R-deficient mice: evidence for coordinated regulation of exocrine gland function by melanocortin peptides. Cell 1997; 91: 789-798.
    • (1997) Cell , vol.91 , pp. 789-798
    • Chen, W.1    Kelly, M.A.2    Opitz-Araya, X.3    Thomas, R.E.4    Low, M.J.5    Cone, R.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.