메뉴 건너뛰기




Volumn 110, Issue 19, 2013, Pages 7790-7795

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

Author keywords

Congenital hypertrichosis; Excessive hair growth

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR 13; MESSENGER RNA; UNCLASSIFIED DRUG;

EID: 84877330666     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1216412110     Document Type: Article
Times cited : (41)

References (32)
  • 1
    • 0014807539 scopus 로고
    • Congenital hypertrichosis lanuginosa
    • Beighton P (1970) Congenital hypertrichosis lanuginosa. Arch Dermatol 101(6): 669-672.
    • (1970) Arch Dermatol , vol.101 , Issue.6 , pp. 669-672
    • Beighton, P.1
  • 3
    • 0022406080 scopus 로고
    • On atavisms and atavistic genes
    • Cantú JM, Ruiz C (1985) On atavisms and atavistic genes. Ann Genet 28(3): 141-142.
    • (1985) Ann Genet , vol.28 , Issue.3 , pp. 141-142
    • Cantú, J.M.1    Ruiz, C.2
  • 4
    • 0021377758 scopus 로고
    • Development mechanisms underlying the formation of atavisms
    • Hall BK (1984) Development mechanisms underlying the formation of atavisms. Biol Rev Camb Philos Soc 59(1): 89-124.
    • (1984) Biol Rev Camb Philos Soc , vol.59 , Issue.1 , pp. 89-124
    • Hall, B.K.1
  • 5
    • 77956175070 scopus 로고    scopus 로고
    • Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p112q242)
    • Kim J, et al. (2010) Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2). J Dermatol Sci 59(3): 204-206.
    • (2010) J Dermatol Sci , vol.59 , Issue.3 , pp. 204-206
    • Kim, J.1
  • 6
    • 85047698759 scopus 로고    scopus 로고
    • Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome
    • Tadin M, et al. (2001) Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet 102(1): 100-104.
    • (2001) Am J Med Genet , vol.102 , Issue.1 , pp. 100-104
    • Tadin, M.1
  • 7
    • 66749111309 scopus 로고    scopus 로고
    • Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia
    • Sun M, et al. (2009) Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet 84(6): 807-813.
    • (2009) Am J Hum Genet , vol.84 , Issue.6 , pp. 807-813
    • Sun, M.1
  • 8
    • 54949092491 scopus 로고    scopus 로고
    • A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
    • Fantauzzo KA, et al. (2008) A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet 17(22): 3539-3551.
    • (2008) Hum Mol Genet , vol.17 , Issue.22 , pp. 3539-3551
    • Fantauzzo, K.A.1
  • 9
    • 84870716063 scopus 로고    scopus 로고
    • Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis
    • Fantauzzo KA, Kurban M, Levy B, Christiano AM (2012) Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet 8(11):e1003002.
    • (2012) PLoS Genet , vol.8 , Issue.11
    • Fantauzzo, K.A.1    Kurban, M.2    Levy, B.3    Christiano, A.M.4
  • 10
    • 0031663782 scopus 로고    scopus 로고
    • Position effect in human genetic disease
    • Kleinjan DJ, van Heyningen V (1998) Position effect in human genetic disease. Hum Mol Genet 7(10): 1611-1618.
    • (1998) Hum Mol Genet , vol.7 , Issue.10 , pp. 1611-1618
    • Kleinjan, D.J.1    Van Heyningen, V.2
  • 11
    • 0042131836 scopus 로고    scopus 로고
    • Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait
    • Tadin-Strapps M, et al. (2003) Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait. Clin Genet 63(5): 418-422.
    • (2003) Clin Genet , vol.63 , Issue.5 , pp. 418-422
    • Tadin-Strapps, M.1
  • 12
    • 0036306870 scopus 로고    scopus 로고
    • Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
    • Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF (2002) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71(1): 168-173.
    • (2002) Am J Hum Genet , vol.71 , Issue.1 , pp. 168-173
    • Plenge, R.M.1    Stevenson, R.A.2    Lubs, H.A.3    Schwartz, C.E.4    Willard, H.F.5
  • 13
    • 33750415286 scopus 로고    scopus 로고
    • Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
    • Knudsen GP, et al. (2006) Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. Eur J Hum Genet 14(11): 1189-1194.
    • (2006) Eur J Hum Genet , vol.14 , Issue.11 , pp. 1189-1194
    • Knudsen, G.P.1
  • 14
    • 79958819268 scopus 로고    scopus 로고
    • X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3
    • Zhu H, et al. (2011) X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. Am J Hum Genet 88(6): 819-826.
    • (2011) Am J Hum Genet , vol.88 , Issue.6 , pp. 819-826
    • Zhu, H.1
  • 15
    • 31044431832 scopus 로고    scopus 로고
    • Characterization and isolation of stem cell-enriched human hair follicle bulge cells
    • Ohyama M, et al. (2006) Characterization and isolation of stem cell-enriched human hair follicle bulge cells. J Clin Invest 116(1): 249-260.
    • (2006) J Clin Invest , vol.116 , Issue.1 , pp. 249-260
    • Ohyama, M.1
  • 16
    • 2442625245 scopus 로고    scopus 로고
    • Bulge- and basal layer-specific expression of fibroblast growth factor-13 (FHF-2) in mouse skin
    • Kawano M, Suzuki S, Suzuki M, Oki J, Imamura T (2004) Bulge- and basal layer-specific expression of fibroblast growth factor-13 (FHF-2) in mouse skin. J Invest Dermatol 122(5): 1084-1090.
    • (2004) J Invest Dermatol , vol.122 , Issue.5 , pp. 1084-1090
    • Kawano, M.1    Suzuki, S.2    Suzuki, M.3    Oki, J.4    Imamura, T.5
  • 17
    • 0042810698 scopus 로고    scopus 로고
    • A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
    • Lettice LA, et al. (2003) A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 12(14): 1725-1735.
    • (2003) Hum Mol Genet , vol.12 , Issue.14 , pp. 1725-1735
    • Lettice, L.A.1
  • 18
    • 0037188510 scopus 로고    scopus 로고
    • Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
    • Lettice LA, et al. (2002) Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA 99(11): 7548-7553.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.11 , pp. 7548-7553
    • Lettice, L.A.1
  • 19
    • 33845528754 scopus 로고    scopus 로고
    • Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
    • Leipoldt M, et al. (2007) Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet 71(1): 67-75.
    • (2007) Clin Genet , vol.71 , Issue.1 , pp. 67-75
    • Leipoldt, M.1
  • 20
    • 15944402131 scopus 로고    scopus 로고
    • Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
    • Velagaleti GV, et al. (2005) Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 76(4): 652-662.
    • (2005) Am J Hum Genet , vol.76 , Issue.4 , pp. 652-662
    • Velagaleti, G.V.1
  • 21
    • 0033106112 scopus 로고    scopus 로고
    • WNT signaling in the control of hair growth and structure
    • Millar SE, et al. (1999) WNT signaling in the control of hair growth and structure. Dev Biol 207(1): 133-149.
    • (1999) Dev Biol , vol.207 , Issue.1 , pp. 133-149
    • Millar, S.E.1
  • 22
    • 0035110666 scopus 로고    scopus 로고
    • Control of hair growth and follicle size by VEGFmediated angiogenesis
    • Yano K, Brown LF, Detmar M (2001) Control of hair growth and follicle size by VEGFmediated angiogenesis. J Clin Invest 107(4): 409-417.
    • (2001) J Clin Invest , vol.107 , Issue.4 , pp. 409-417
    • Yano, K.1    Brown, L.F.2    Detmar, M.3
  • 23
    • 80155135593 scopus 로고    scopus 로고
    • Developmentally regulated expression of intracellular Fgf11-13, hormone-like Fgf15 and canonical Fgf16, -17 and -20 mRNAs in the developing mouse molar tooth
    • Kettunen P, Furmanek T, Chaulagain R, Kvinnsland IH, Luukko K (2011) Developmentally regulated expression of intracellular Fgf11-13, hormone-like Fgf15 and canonical Fgf16, -17 and -20 mRNAs in the developing mouse molar tooth. Acta Odontol Scand 69(6): 360-366.
    • (2011) Acta Odontol Scand , vol.69 , Issue.6 , pp. 360-366
    • Kettunen, P.1    Furmanek, T.2    Chaulagain, R.3    Kvinnsland, I.H.4    Luukko, K.5
  • 24
    • 0037147297 scopus 로고    scopus 로고
    • Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase
    • Schoorlemmer J, Goldfarb M (2002) Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase. J Biol Chem 277(51): 49111-49119.
    • (2002) J Biol Chem , vol.277 , Issue.51 , pp. 49111-49119
    • Schoorlemmer, J.1    Goldfarb, M.2
  • 25
    • 0027931643 scopus 로고
    • FGF5 as a regulator of the hair growth cycle: Evidence from targeted and spontaneous mutations
    • Hébert JM, Rosenquist T, Götz J, Martin GR (1994) FGF5 as a regulator of the hair growth cycle: Evidence from targeted and spontaneous mutations. Cell 78(6): 1017-1025.
    • (1994) Cell , vol.78 , Issue.6 , pp. 1017-1025
    • Hébert, J.M.1    Rosenquist, T.2    Götz, J.3    Martin, G.R.4
  • 26
    • 33746265418 scopus 로고    scopus 로고
    • The long and the short of it: Evidence that FGF5 is a major determinant of canine 'hair'-itability
    • Housley DJ, Venta PJ (2006) The long and the short of it: Evidence that FGF5 is a major determinant of canine 'hair'-itability. Anim Genet 37(4): 309-315.
    • (2006) Anim Genet , vol.37 , Issue.4 , pp. 309-315
    • Housley, D.J.1    Venta, P.J.2
  • 27
    • 65349084393 scopus 로고    scopus 로고
    • Effects of FGF5 gene on fibre traits on Inner Mongolian cashmere goats
    • Liu HY, Yang GQ, Zhang W, Zhu XP, Jia ZH (2009) [Effects of FGF5 gene on fibre traits on Inner Mongolian cashmere goats]. Yi Chuan 31(2): 175-179.
    • (2009) Yi Chuan , vol.31 , Issue.2 , pp. 175-179
    • Liu, H.Y.1    Yang, G.Q.2    Zhang, W.3    Zhu, X.P.4    Zh, J.5
  • 28
    • 62249219897 scopus 로고    scopus 로고
    • Correlation analysis between single nucleotide polymorphism of FGF5 gene and wool yield in rabbits
    • Li CX, Jiang MS, Chen SY, Lai SJ (2008) [Correlation analysis between single nucleotide polymorphism of FGF5 gene and wool yield in rabbits]. Yi Chuan 30(7): 893-899.
    • (2008) Yi Chuan , vol.30 , Issue.7 , pp. 893-899
    • Li, C.X.1    Jiang, M.S.2    Chen, S.Y.3    Lai, S.J.4
  • 29
    • 84862669298 scopus 로고    scopus 로고
    • Fibroblast growth factor 13 is a microtubule-stabilizing protein regulating neuronal polarization and migration
    • Wu QF, et al. (2012) Fibroblast growth factor 13 is a microtubule-stabilizing protein regulating neuronal polarization and migration. Cell 149(7): 1549-1564.
    • (2012) Cell , vol.149 , Issue.7 , pp. 1549-1564
    • Wu, Q.F.1
  • 32
    • 33745607642 scopus 로고    scopus 로고
    • Phylogenetic memory of developing mammalian dentition
    • Peterkova R, Lesot H, Peterka M (2006) Phylogenetic memory of developing mammalian dentition. J Exp Zoolog B Mol Dev Evol 306(3): 234-250.
    • (2006) J Exp Zoolog B Mol Dev Evol , vol.306 , Issue.3 , pp. 234-250
    • Peterkova, R.1    Lesot, H.2    Peterka, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.