메뉴 건너뛰기




Volumn 39, Issue 1, 2012, Pages 3-10

Congenital hair loss disorders: Rare, but not too rare

Author keywords

hair follicle; hypotrichosis; LIPH; monilethrix; woolly hair

Indexed keywords

DESMOCOLLIN; DESMOGLEIN; DESMOGLEIN 4; KERATIN; LIPASE H; LYSOPHOSPHATIDIC ACID; P CADHERIN; PHOSPHATIDIC ACID SELECTIVE PHOSPHOLIPASE A1 ALPHA; PHOSPHOLIPASE A1; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

EID: 84855351712     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2011.01395.x     Document Type: Review
Times cited : (45)

References (90)
  • 1
    • 0026571418 scopus 로고
    • The secret life of the hair follicle
    • Hardy MH,. The secret life of the hair follicle. Trends Genet 1992; 8: 55-61.
    • (1992) Trends Genet , vol.8 , pp. 55-61
    • Hardy, M.H.1
  • 2
    • 0036178229 scopus 로고    scopus 로고
    • Molecular mechanisms regulating hair follicle development
    • DOI 10.1046/j.0022-202x.2001.01670.x
    • Millar SE,. Molecular mechanisms regulating hair follicle development. J Invest Dermatol 2002; 118: 216-225. (Pubitemid 34158473)
    • (2002) Journal of Investigative Dermatology , vol.118 , Issue.2 , pp. 216-225
    • Millar, S.E.1
  • 3
    • 21644477607 scopus 로고    scopus 로고
    • In search of the hair cycle clock: A guided tour
    • DOI 10.1111/j.1432-0436.2004.07209004.x
    • Paus R, Foitzik K,. In search of the "hair cycle clock": a guided tour. Differentiation 2004; 72: 489-511. (Pubitemid 41702105)
    • (2004) Differentiation , vol.72 , Issue.9-10 , pp. 489-511
    • Paus, R.1    Foitzik, K.2
  • 4
    • 0025313294 scopus 로고
    • Label-retaining cells reside in the bulge area of pilosebaceous unit: Implications for follicular stem cells, hair cycle, and skin carcinogenesis
    • Cotsarelis G, Sun TT, Lavker RM,. Label-retaining cells reside in the bulge area of pilosebaceous unit: implications for follicular stem cells, hair cycle, and skin carcinogenesis. Cell 1990; 61: 1329-1337.
    • (1990) Cell , vol.61 , pp. 1329-1337
    • Cotsarelis, G.1    Sun, T.T.2    Lavker, R.M.3
  • 5
    • 0035951372 scopus 로고    scopus 로고
    • Morphogenesis and renewal of hair follicles from adult multipotent stem cells
    • DOI 10.1016/S0092-8674(01)00208-2
    • Oshima H, Rochat A, Kedzia C, Kobayashi K, Barrandon Y,. Morphogenesis and renewal of hair follicles from adult multipotent stem cells. Cell 2001; 104: 233-245. (Pubitemid 32174839)
    • (2001) Cell , vol.104 , Issue.2 , pp. 233-245
    • Oshima, H.1    Rochat, A.2    Kedzia, C.3    Kobayashi, K.4    Barrandon, Y.5
  • 10
    • 39749127597 scopus 로고
    • Uber eine familie mit recessiver Kraushaarigkeit, hypotrichose und anderen anomalien
    • Salamon T,. Uber eine familie mit recessiver Kraushaarigkeit, hypotrichose und anderen anomalien. Hautarzt 1963; 14: 540-544.
    • (1963) Hautarzt , vol.14 , pp. 540-544
    • Salamon, T.1
  • 11
    • 0030636268 scopus 로고    scopus 로고
    • Integral lipids of hair and stratum corneum
    • Wertz PW,. Integral lipids of hair and stratum corneum. EXS 1997; 78: 227-237.
    • (1997) EXS , vol.78 , pp. 227-237
    • Wertz, P.W.1
  • 12
    • 0041833766 scopus 로고    scopus 로고
    • Phosphatidic acid has a potential to promote hair growth in vitro and in vivo, and activates mitogen-activated protein kinase/extracellular signal-regulated kinase kinase in hair epithelial cells
    • DOI 10.1046/j.1523-1747.2003.12426.x
    • Takahashi T, Kamimura A, Hamazono-Matsuoka T, Honda S,. Phosphatidic acid has a potential to promote hair growth in vitro and in vivo, and activates mitogen-activated protein kinase/extracellular signal-regulated kinase kinase in hair epithelial cells. J Invest Dermatol 2003; 121: 448-456. (Pubitemid 37072252)
    • (2003) Journal of Investigative Dermatology , vol.121 , Issue.3 , pp. 448-456
    • Takahashi, T.1    Kamimura, A.2    Hamazono-Matsuoka, T.3    Honda, S.4
  • 14
    • 0037072820 scopus 로고    scopus 로고
    • A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid
    • Sonoda H, Aoki J, Hiramatsu T, et al. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. J Biol Chem 2002; 277: 34254-34263.
    • (2002) J Biol Chem , vol.277 , pp. 34254-34263
    • Sonoda, H.1    Aoki, J.2    Hiramatsu, T.3
  • 15
    • 59949091626 scopus 로고    scopus 로고
    • Mutations in the Lipase H (LIPH) gene underlie autosomal recessive woolly hair/hypotrichosis
    • Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM,. Mutations in the Lipase H (LIPH) gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol 2009; 129: 622-628.
    • (2009) J Invest Dermatol , vol.129 , pp. 622-628
    • Shimomura, Y.1    Wajid, M.2    Petukhova, L.3    Shapiro, L.4    Christiano, A.M.5
  • 16
    • 67651096022 scopus 로고    scopus 로고
    • Founder mutations in the lipase H (LIPH) gene in families with autosomal recessive woolly hair/hypotrichosis
    • Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM,. Founder mutations in the lipase H (LIPH) gene in families with autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol 2009; 129: 1927-1934.
    • (2009) J Invest Dermatol , vol.129 , pp. 1927-1934
    • Shimomura, Y.1    Wajid, M.2    Zlotogorski, A.3    Lee, Y.J.4    Rice, R.H.5    Christiano, A.M.6
  • 18
  • 19
    • 67650522890 scopus 로고    scopus 로고
    • Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6
    • Yanagida K, Masago K, Nakanishi H, et al. Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6. J Biol Chem 2009; 284: 17731-17741.
    • (2009) J Biol Chem , vol.284 , pp. 17731-17741
    • Yanagida, K.1    Masago, K.2    Nakanishi, H.3
  • 22
    • 0027315183 scopus 로고
    • Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation
    • DOI 10.1016/0092-8674(93)90227-H
    • Mann GB, Fowler KJ, Gabriel A, Nice EC, Williams RL, Dunn AR,. Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell 1993; 73: 249-261. (Pubitemid 23123305)
    • (1993) Cell , vol.73 , Issue.2 , pp. 249-261
    • Mann, G.B.1    Fowler, K.J.2    Gabriel, A.3    Nice, E.C.4    Williams, R.L.5    Dunn, A.R.6
  • 23
    • 0027297643 scopus 로고
    • TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice
    • DOI 10.1016/0092-8674(93)90228-I
    • Luetteke NC, Qiu TH, Peiffer RL, Oliver P, Smithies O, Lee DC,. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 1993; 73: 263-278. (Pubitemid 23123306)
    • (1993) Cell , vol.73 , Issue.2 , pp. 263-278
    • Luetteke, N.C.1    Ting Hu Qiu2    Peiffer, R.L.3    Oliver, P.4    Smithies, O.5    Lee, D.C.6
  • 26
    • 70449518954 scopus 로고    scopus 로고
    • Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis
    • Shimomura Y, Ito M, Christiano AM,. Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. J Dermatol Sci 2009; 56: 205-207.
    • (2009) J Dermatol Sci , vol.56 , pp. 205-207
    • Shimomura, Y.1    Ito, M.2    Christiano, A.M.3
  • 27
    • 77951828274 scopus 로고    scopus 로고
    • Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis
    • Shinkuma S, Akiyama M, Inoue A, et al. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat 2010; 31: 602-610.
    • (2010) Hum Mutat , vol.31 , pp. 602-610
    • Shinkuma, S.1    Akiyama, M.2    Inoue, A.3
  • 28
    • 80052058969 scopus 로고    scopus 로고
    • Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
    • (in press).
    • Yoshimasu T, Kanazawa N, Kambe N, Nakamura M, Furukawa F,. Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair. J Dermatol (in press).
    • J Dermatol
    • Yoshimasu, T.1    Kanazawa, N.2    Kambe, N.3    Nakamura, M.4    Furukawa, F.5
  • 29
    • 0036468732 scopus 로고    scopus 로고
    • Hard and soft principles defining the structure, function and regulation of keratin intermediate filaments
    • DOI 10.1016/S0955-0674(01)00301-5
    • Coulombe PA, Omary MB,. "Hard" and "soft" principles defining the structure, function and regulation of keratin intermediate filaments. Curr Opin Cell Biol 2002; 14: 110-122. (Pubitemid 34131664)
    • (2002) Current Opinion in Cell Biology , vol.14 , Issue.1 , pp. 110-122
    • Coulombe, P.A.1    Omary M.Bishr2
  • 30
    • 44149099717 scopus 로고    scopus 로고
    • The human keratins: Biology and pathology
    • Moll R, Divo M, Langbein L,. The human keratins: biology and pathology. Histochem Cell Biol 2008; 129: 705-733.
    • (2008) Histochem Cell Biol , vol.129 , pp. 705-733
    • Moll, R.1    Divo, M.2    Langbein, L.3
  • 31
    • 0033538528 scopus 로고    scopus 로고
    • The catalog of human hair keratins I. Expression of the nine type i members in the hair follicle
    • Langbein L, Rogers MA, Winter H, et al. The catalog of human hair keratins I. Expression of the nine type I members in the hair follicle. J Biol Chem 1999; 274: 19874-19884.
    • (1999) J Biol Chem , vol.274 , pp. 19874-19884
    • Langbein, L.1    Rogers, M.A.2    Winter, H.3
  • 32
    • 0035860762 scopus 로고    scopus 로고
    • The catalog of human hair keratins II. Expression of the six type II members in the hair follicle and the combined catalog of human type i and II keratins
    • Langbein L, Rogers MA, Winter H, Praetzel S, Schweizer J,. The catalog of human hair keratins II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. J Biol Chem 2001; 276: 35123-35132.
    • (2001) J Biol Chem , vol.276 , pp. 35123-35132
    • Langbein, L.1    Rogers, M.A.2    Winter, H.3    Praetzel, S.4    Schweizer, J.5
  • 33
  • 38
    • 33645121546 scopus 로고    scopus 로고
    • A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
    • Naeem M, Wajid M, Lee K, Leal SM, Ahmad W,. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet 2006; 43: 274-279.
    • (2006) J Med Genet , vol.43 , pp. 274-279
    • Naeem, M.1    Wajid, M.2    Lee, K.3    Leal, S.M.4    Ahmad, W.5
  • 39
    • 76649103030 scopus 로고    scopus 로고
    • Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia
    • Shimomura Y, Wajid M, Kurban M, Sato N, Christiano AM,. Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. J Invest Dermatol 2010; 130: 892-895.
    • (2010) J Invest Dermatol , vol.130 , pp. 892-895
    • Shimomura, Y.1    Wajid, M.2    Kurban, M.3    Sato, N.4    Christiano, A.M.5
  • 40
    • 4544320330 scopus 로고    scopus 로고
    • Expression of hair keratins in the adult nail unit: An immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed
    • DOI 10.1111/j.1365-2133.2004.06108.x
    • Perrin C, Langbein L, Schweizer J,. Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed. Br J Dermatol 2004; 151: 362-371. (Pubitemid 39220332)
    • (2004) British Journal of Dermatology , vol.151 , Issue.2 , pp. 362-371
    • Perrin, C.1    Langbein, L.2    Schweizer, J.3
  • 41
    • 0342572603 scopus 로고    scopus 로고
    • Mutations in GJB6 cause hidrotic ectodermal dysplasia
    • Lamartine J, Essenfelder GM, Kibar Z, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000; 26: 142-144.
    • (2000) Nat Genet , vol.26 , pp. 142-144
    • Lamartine, J.1    Essenfelder, G.M.2    Kibar, Z.3
  • 42
    • 77950341067 scopus 로고    scopus 로고
    • Autosomal dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture
    • Shimomura Y, Wajid M, Petukhova L, Kurban M, Christiano AM,. Autosomal dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am J Hum Genet 2010; 86: 632-638.
    • (2010) Am J Hum Genet , vol.86 , pp. 632-638
    • Shimomura, Y.1    Wajid, M.2    Petukhova, L.3    Kurban, M.4    Christiano, A.M.5
  • 43
    • 79953834314 scopus 로고    scopus 로고
    • Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
    • Wasif N, ul-Hassan Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W,. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Hum Genet 2011; 129: 419-424.
    • (2011) Hum Genet , vol.129 , pp. 419-424
    • Wasif, N.1    Ul-Hassan Naqvi, S.K.2    Basit, S.3    Ali, N.4    Ansar, M.5    Ahmad, W.6
  • 44
    • 0344837423 scopus 로고    scopus 로고
    • K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath- specific type II epithelial keratins of the human hair follicle
    • Langbein L, Rogers MA, Praetzel S, Winter H, Schweizer J,. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. J Invest Dermatol 2010; 120: 512-522.
    • (2010) J Invest Dermatol , vol.120 , pp. 512-522
    • Langbein, L.1    Rogers, M.A.2    Praetzel, S.3    Winter, H.4    Schweizer, J.5
  • 45
    • 33644769923 scopus 로고    scopus 로고
    • Inherited disorders of desmosomes
    • DOI 10.1111/j.1440-0960.2005.00188.x
    • McGrath JA,. Inherited disorders of desmosomes. Australas J Dermatol 2005; 46: 221-229. (Pubitemid 43942706)
    • (2005) Australasian Journal of Dermatology , vol.46 , Issue.4 , pp. 221-229
    • McGrath, J.A.1
  • 47
    • 33745569010 scopus 로고    scopus 로고
    • Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis
    • DOI 10.1038/sj.jid.5700113, PII 5700113
    • Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M,. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol 2006; 126: 1281-1285. (Pubitemid 43997908)
    • (2006) Journal of Investigative Dermatology , vol.126 , Issue.6 , pp. 1281-1285
    • Shimomura, Y.1    Sakamoto, F.2    Kariya, N.3    Matsunaga, K.4    Ito, M.5
  • 50
    • 79960634106 scopus 로고    scopus 로고
    • A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
    • Farooq M, Ito M, Naito M, Shimomura Y,. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol 2011; 165: 425-431.
    • (2011) Br J Dermatol , vol.165 , pp. 425-431
    • Farooq, M.1    Ito, M.2    Naito, M.3    Shimomura, Y.4
  • 51
    • 33644863162 scopus 로고    scopus 로고
    • Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle
    • DOI 10.1111/j.1432-0436.2006.00061.x
    • Bazzi H, Getz A, Mahoney MG, et al. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 2006; 74: 129-140. (Pubitemid 43376172)
    • (2006) Differentiation , vol.74 , Issue.2-3 , pp. 129-140
    • Bazzi, H.1    Getz, A.2    Mahoney, M.G.3    Ishida-Yamamoto, A.4    Langbein, L.5    Wahl III, J.K.6    Christiano, A.M.7
  • 52
    • 70350492104 scopus 로고    scopus 로고
    • A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles
    • Ayub M, Basit S, Jelani M, et al. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet 2009; 85: 515-520.
    • (2009) Am J Hum Genet , vol.85 , pp. 515-520
    • Ayub, M.1    Basit, S.2    Jelani, M.3
  • 53
    • 76049106935 scopus 로고    scopus 로고
    • No evidence of skin blisters with human desmocollin-3 gene mutation
    • Payne AS,. No evidence of skin blisters with human desmocollin-3 gene mutation. Am J Hum Genet 2010; 86: 292.
    • (2010) Am J Hum Genet , vol.86 , pp. 292
    • Payne, A.S.1
  • 54
    • 84984774604 scopus 로고    scopus 로고
    • Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
    • McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17: 240-244.
    • (1997) Nat Genet , vol.17 , pp. 240-244
    • McGrath, J.A.1    McMillan, J.R.2    Shemanko, C.S.3
  • 58
    • 54849404191 scopus 로고    scopus 로고
    • Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair
    • Simpson MA, Mansour S, Ahnood D, et al. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology 2009; 113: 28-34.
    • (2009) Cardiology , vol.113 , pp. 28-34
    • Simpson, M.A.1    Mansour, S.2    Ahnood, D.3
  • 59
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9: 2761-2766.
    • (2000) Hum Mol Genet , vol.9 , pp. 2761-2766
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3
  • 60
    • 16644371434 scopus 로고    scopus 로고
    • Classical cadherin adhesion molecules: Coordinating cell adhesion, signaling and the cytoskeleton
    • DOI 10.1007/s10735-004-1833-2
    • Goodwin M, Yap AS,. Classical cadherin adhesion molecules: coordinating cell adhesion, signaling and the cytoskeleton. J Mol Histol 2004; 35: 839-844. (Pubitemid 41404630)
    • (2004) Journal of Molecular Histology , vol.35 , Issue.8-9 , pp. 839-844
    • Goodwin, M.1    Yap, A.S.2
  • 61
    • 0024552761 scopus 로고
    • Expression and role of E- and P-cadherin adhesion molecules in embryonic histogenesis. II. Skin morphogenesis
    • Hirai Y, Nose A, Kobayashi S, Takeichi M,. Expression and role of E- and P-cadherin adhesion molecules in embryonic histogenesis. II. Skin morphogenesis. Development 1989; 105: 271-277. (Pubitemid 19053276)
    • (1989) Development , vol.105 , Issue.2 , pp. 271-277
    • Hirai, Y.1    Nose, A.2    Kobayashi, S.3    Takeichi, M.4
  • 62
    • 0037456847 scopus 로고    scopus 로고
    • Links between signal transduction, transcription and adhesion in epithelial bud development
    • DOI 10.1038/nature01458
    • Jamora C, DasGupta R, Kocieniewski P, Fuchs E,. Links between signal transduction, transcription and adhesion in epithelial bud development. Nature 2003; 422: 317-322. (Pubitemid 36378359)
    • (2003) Nature , vol.422 , Issue.6929 , pp. 317-322
    • Jamora, C.1    DasGupta, R.2    Kocieniewski, P.3    Fuchs, E.4
  • 64
    • 40949141331 scopus 로고    scopus 로고
    • P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle
    • DOI 10.1242/dev.006718
    • Shimomura Y, Wajid M, Shapiro L, Christiano AM,. P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. Development 2008; 135: 743-753. (Pubitemid 351405027)
    • (2008) Development , vol.135 , Issue.4 , pp. 743-753
    • Shimomura, Y.1    Wajid, M.2    Shapiro, L.3    Christiano, A.M.4
  • 72
    • 59149083659 scopus 로고    scopus 로고
    • Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
    • Wen Y, Liu Y, Xu Y, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet 2009; 41: 228-233.
    • (2009) Nat Genet , vol.41 , pp. 228-233
    • Wen, Y.1    Liu, Y.2    Xu, Y.3
  • 73
    • 0016337743 scopus 로고
    • Hereditary hypotrichosis simplex of the scalp evidence for autosomal dominant inheritance
    • Toribio J, Quinones PA,. Hereditary hypotrichosis simplex of the scalp evidence for autosomal dominant inheritance. Br J Dermatol 1974; 91: 687-696.
    • (1974) Br J Dermatol , vol.91 , pp. 687-696
    • Toribio, J.1    Quinones, P.A.2
  • 77
    • 79959374277 scopus 로고    scopus 로고
    • Order and disorder in corneocyte adhesion
    • Ishida-Yamamoto A, Igawa S, Kishibe M,. Order and disorder in corneocyte adhesion. J Dermatol 2011; 38: 645-654.
    • (2011) J Dermatol , vol.38 , pp. 645-654
    • Ishida-Yamamoto, A.1    Igawa, S.2    Kishibe, M.3
  • 78
    • 77956635278 scopus 로고    scopus 로고
    • A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
    • Caubet C, Bousset L, Clemmensen O, et al. A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 2010; 24: 3416-3426.
    • (2010) FASEB J , vol.24 , pp. 3416-3426
    • Caubet, C.1    Bousset, L.2    Clemmensen, O.3
  • 79
    • 77955577355 scopus 로고    scopus 로고
    • Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: Unraveling the peeling skin disease
    • Oji V, Eckl KM, Aufenvenne K, et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87: 274-281.
    • (2010) Am J Hum Genet , vol.87 , pp. 274-281
    • Oji, V.1    Eckl, K.M.2    Aufenvenne, K.3
  • 80
    • 79951497066 scopus 로고    scopus 로고
    • Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin
    • Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E,. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 2011; 131: 779-781.
    • (2011) J Invest Dermatol , vol.131 , pp. 779-781
    • Israeli, S.1    Zamir, H.2    Sarig, O.3    Bergman, R.4    Sprecher, E.5
  • 83
    • 0036125197 scopus 로고    scopus 로고
    • Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides
    • DOI 10.1046/j.0022-202x.2001.01663.x
    • Komatsu N, Takata M, Otsuki N, et al. Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. J Invest Dermatol 2002; 118: 436-443. (Pubitemid 34227160)
    • (2002) Journal of Investigative Dermatology , vol.118 , Issue.3 , pp. 436-443
    • Komatsu, N.1    Takata, M.2    Otsuki, N.3    Ohka, R.4    Amano, O.5    Takehara, K.6    Saijoh, K.7
  • 85
    • 33847225554 scopus 로고    scopus 로고
    • Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase
    • Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, et al. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet 2007; 80: 467-477.
    • (2007) Am J Hum Genet , vol.80 , pp. 467-477
    • Basel-Vanagaite, L.1    Attia, R.2    Ishida-Yamamoto, A.3
  • 86
    • 0034123513 scopus 로고    scopus 로고
    • An autosomal dominant form of hereditary hypotrichosis Simplex maps to 18p11.32-p11.23 in an Italian family
    • DOI 10.1038/sj.ejhg.5200506
    • Baumer A, Belli S, Trüeb RM, Schinzel A,. An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. Eur J Hum Genet 2000; 8: 443-448. (Pubitemid 30364824)
    • (2000) European Journal of Human Genetics , vol.8 , Issue.6 , pp. 443-448
    • Baumer, A.1    Belli, S.2    Trub, R.M.3    Schinzel, A.4
  • 87
    • 77951122089 scopus 로고    scopus 로고
    • APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
    • Shimomura Y, Agalliu D, Vonica A, et al. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature 2010; 464: 1043-1047.
    • (2010) Nature , vol.464 , pp. 1043-1047
    • Shimomura, Y.1    Agalliu, D.2    Vonica, A.3
  • 88
    • 0037109003 scopus 로고    scopus 로고
    • Isolation of a novel human gene, APCDD1, as a direct target of the β-catenin/T-cell factor 4 complex with probable involvement in colorectal carcinogenesis
    • Takahashi M, Fujita M, Furukawa Y, et al. Isolation of a novel human gene, APCDD1, as a direct target of the beta-Catenin/T-cell factor 4 complex with probable involvement in colorectal carcinogenesis. Cancer Res 2002; 62: 5651-5656. (Pubitemid 35204716)
    • (2002) Cancer Research , vol.62 , Issue.20 , pp. 5651-5656
    • Takahashi, M.1    Fujita, M.2    Furukawa, Y.3    Hamamoto, R.4    Shimokawa, T.5    Miwa, N.6    Ogawa, M.7    Nakamura, Y.8
  • 89
    • 77952573383 scopus 로고    scopus 로고
    • A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family
    • Xu C, Zhang L, Chen N, et al. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. J Cutan Pathol 2010; 37: 758-763.
    • (2010) J Cutan Pathol , vol.37 , pp. 758-763
    • Xu, C.1    Zhang, L.2    Chen, N.3
  • 90
    • 79959699543 scopus 로고    scopus 로고
    • Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex
    • Zhou C, Zang D, Jin Y, et al. Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat 2011; 32: 710-714.
    • (2011) Hum Mutat , vol.32 , pp. 710-714
    • Zhou, C.1    Zang, D.2    Jin, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.