메뉴 건너뛰기




Volumn 16, Issue 3, 2003, Pages 307-311

Oculocutaneous albinism type 1: The last 100 years

Author keywords

Oculocutaneous albinism; Oculocutaneous albinism type 1 (OCA1); Tyrosinase gene

Indexed keywords

MONOPHENOL MONOOXYGENASE;

EID: 0038578684     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0749.2003.00045.x     Document Type: Conference Paper
Times cited : (116)

References (40)
  • 3
    • 0036162139 scopus 로고    scopus 로고
    • New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
    • Oetting WS. New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. Hum Mutat 2002;19:85-92
    • (2002) Hum Mutat , vol.19 , pp. 85-92
    • Oetting, W.S.1
  • 4
    • 0002216325 scopus 로고
    • La loi de Mendel et l'hérédité de la pigmentation chez les souris
    • Cuénot L. La loi de Mendel et l'hérédité de la pigmentation chez les souris. Arch. Zool. exp. gén., 3e Sér 1902;3:27-30
    • (1902) Arch. Zool. Exp. Gén., 3e Sér , vol.3 , pp. 27-30
    • Cuénot, L.1
  • 5
    • 0038781270 scopus 로고
    • Notes on Negro albinism
    • Farabee WC. Notes on Negro albinism. Science 1903;17:75
    • (1903) Science , vol.17 , pp. 75
    • Farabee, W.C.1
  • 6
    • 0038781264 scopus 로고
    • Note on Mr. Farabee's observations
    • Castle WE. Note on Mr. Farabee's observations. Science 1903;17:75-76
    • (1903) Science , vol.17 , pp. 75-76
    • Castle, W.E.1
  • 10
    • 0017787405 scopus 로고
    • Hypopigmentation oculocutanée familiae à transmision dominante due à un trouble de la formation des mélanosomes
    • Frenke E, Calme A. Hypopigmentation oculocutanée familiae à transmision dominante due à un trouble de la formation des mélanosomes. Schweiz Med Wochenschr 1977;107:1964-1968
    • (1977) Schweiz Med Wochenschr , vol.107 , pp. 1964-1968
    • Frenke, E.1    Calme, A.2
  • 11
    • 0016121396 scopus 로고
    • Letter: Autosomal dominant inheritance in albinism
    • Maumenee IH. Letter: Autosomal dominant inheritance in albinism. Am J Ophthalmol 1974;78:737-738
    • (1974) Am J Ophthalmol , vol.78 , pp. 737-738
    • Maumenee, I.H.1
  • 12
    • 50249219919 scopus 로고
    • Croonian lectures on inborn errors of metabolism. Lecture 1
    • Garrod AE. Croonian lectures on inborn errors of metabolism. Lecture 1. Lancet 1908;2:1-7
    • (1908) Lancet , vol.2 , pp. 1-7
    • Garrod, A.E.1
  • 13
    • 0038443438 scopus 로고
    • Sir Archibalg Garrod's 'Inborn Errors of Metabolism' III Albinism
    • Knox WE. Sir Archibalg Garrod's 'Inborn Errors of Metabolism' III Albinism. Am J Hum Genet 1958;10:249-267
    • (1958) Am J Hum Genet , vol.10 , pp. 249-267
    • Knox, W.E.1
  • 14
    • 0000537283 scopus 로고
    • The aerobic oxidases
    • Raper HS. The aerobic oxidases. Physiol Rev 1928;8:245-282
    • (1928) Physiol Rev , vol.8 , pp. 245-282
    • Raper, H.S.1
  • 15
    • 0002518418 scopus 로고
    • The chemistry of melanin
    • Mason HS. The chemistry of melanin. J Biol Chem 1948;172:83-99
    • (1948) J Biol Chem , vol.172 , pp. 83-99
    • Mason, H.S.1
  • 16
  • 17
    • 0007890669 scopus 로고
    • Oxygen transfer and electron transport by the phenolase complex
    • Mason HS, Fowlks WL, Peterson E. Oxygen transfer and electron transport by the phenolase complex. J Am Chem Soc 1955;107:4015-4027
    • (1955) J Am Chem Soc , vol.107 , pp. 4015-4027
    • Mason, H.S.1    Fowlks, W.L.2    Peterson, E.3
  • 18
    • 0003178286 scopus 로고
    • Chemische untersuchungen uber das specifische pigment-bildende ferment der haut, die dopaoxydase
    • Bloch B. Chemische untersuchungen uber das specifische pigment-bildende ferment der haut, die dopaoxydase. Hoppe Seylers Z Physiol Chem 1917;98:226-254
    • (1917) Hoppe Seylers Z Physiol Chem , vol.98 , pp. 226-254
    • Bloch, B.1
  • 19
    • 0008885552 scopus 로고
    • The nature of hair pigment
    • Montagna W, Ellis RA. New York: Academic Press
    • Fitzpatrick TB, Brunet P, Kukita A. The nature of hair pigment. In: Montagna W, Ellis RA. The Biology of Hair Growth. New York: Academic Press; 1958. pp. 255-303
    • (1958) The Biology of Hair Growth , pp. 255-303
    • Fitzpatrick, T.B.1    Brunet, P.2    Kukita, A.3
  • 20
    • 0002792179 scopus 로고
    • Marriage of two complete albinos with normally pigmented offspring
    • Trevor-Roper PD. Marriage of two complete albinos with normally pigmented offspring. Br J Ophthal 1952;36:107
    • (1952) Br J Ophthal , vol.36 , pp. 107
    • Trevor-Roper, P.D.1
  • 21
    • 0014708081 scopus 로고
    • Autosomal recessive oculocutaneous albinism in man: Evidence for genetic heterogeneity
    • Witkop CJ, Nance WE, Rawls RF, White JG. Autosomal recessive oculocutaneous albinism in man: evidence for genetic heterogeneity. Am J Hum Genet 1970;22:55
    • (1970) Am J Hum Genet , vol.22 , pp. 55
    • Witkop, C.J.1    Nance, W.E.2    Rawls, R.F.3    White, J.G.4
  • 22
    • 1542286422 scopus 로고
    • Tyrosinase activity in melanocytes of human albinos
    • Kugelman TP, Van Scott EJ. Tyrosinase activity in melanocytes of human albinos. J Invest Derm 1961;37:73
    • (1961) J Invest Derm , vol.37 , pp. 73
    • Kugelman, T.P.1    Van Scott, E.J.2
  • 23
    • 0014708081 scopus 로고
    • Autosomal recessive oculocutaneous albinism in man: Evidence for genetic heterogeneity
    • Witkop CJ, Nance WE, Rawls RF, White JG. Autosomal recessive oculocutaneous albinism in man: evidence for genetic heterogeneity. Am J Hum Genet 1970;22:55-74
    • (1970) Am J Hum Genet , vol.22 , pp. 55-74
    • Witkop, C.J.1    Nance, W.E.2    Rawls, R.F.3    White, J.G.4
  • 24
    • 0037766664 scopus 로고
    • Note on some varieties of albinism
    • Nettleship E. Note on some varieties of albinism. Trans Ophth Soc (UK) 1906;26:244-251
    • (1906) Trans Ophth Soc (UK) , vol.26 , pp. 244-251
    • Nettleship, E.1
  • 25
    • 0030722720 scopus 로고    scopus 로고
    • Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase
    • Cooksey CJ, Garratt PJ, Land EJ, Pavel S, Ramsden CA, Riley PA, Smit NPM. Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase. J Biol Chem 1997;272:26226-26235
    • (1997) J Biol Chem , vol.272 , pp. 26226-26235
    • Cooksey, C.J.1    Garratt, P.J.2    Land, E.J.3    Pavel, S.4    Ramsden, C.A.5    Riley, P.A.6    Smit, N.P.M.7
  • 26
    • 18744385809 scopus 로고    scopus 로고
    • Hermansky-pudlak syndrome: Vesicle formation from yeast to man
    • Huizing M, Boissy RE, Gahl WA. Hermansky-pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res 2002;15:405-419
    • (2002) Pigment Cell Res , vol.15 , pp. 405-419
    • Huizing, M.1    Boissy, R.E.2    Gahl, W.A.3
  • 28
    • 0013587129 scopus 로고
    • Isolation and sequence of a cDNA locus for human tyrosinase that maps at the mouse c-albino locus
    • Kwon BS, Haq AK, Pomerantz SH, Halaban R. Isolation and sequence of a cDNA locus for human tyrosinase that maps at the mouse c-albino locus. Proc Natl Acad Sci USA 1987;84:7473-7477
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 7473-7477
    • Kwon, B.S.1    Haq, A.K.2    Pomerantz, S.H.3    Halaban, R.4
  • 29
  • 30
    • 0032913013 scopus 로고    scopus 로고
    • Molecular basis of albinism: Mutations and polymorphisms of pigment genes associated with albinism
    • Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigment genes associated with albinism. Human Mutation 1999;13:99-115
    • (1999) Human Mutation , vol.13 , pp. 99-115
    • Oetting, W.S.1    King, R.A.2
  • 31
    • 0025851039 scopus 로고
    • Non-random distribution of missense mutations within the human tyrosinase gene in Type 1 (tyrosinase-related) oculocutaneous albinism
    • King RA, Mentink MM, Oetting WS. Non-random distribution of missense mutations within the human tyrosinase gene in Type 1 (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 1991;8:19-29
    • (1991) Mol Biol Med , vol.8 , pp. 19-29
    • King, R.A.1    Mentink, M.M.2    Oetting, W.S.3
  • 32
    • 0026636855 scopus 로고
    • Tyrosinase gene mutations in type I (Tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions
    • Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA. Tyrosinase gene mutations in type I (Tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet 1992;43:865-871
    • (1992) Am J Med Genet , vol.43 , pp. 865-871
    • Tripathi, R.K.1    Strunk, K.M.2    Giebel, L.B.3    Weleber, R.G.4    Spritz, R.A.5
  • 35
    • 0025808737 scopus 로고
    • A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism
    • Giebel LB, Tripathi RK, King RA, Spritz RA. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. J Clin Invest 1991;87:1119-1122
    • (1991) J Clin Invest , vol.87 , pp. 1119-1122
    • Giebel, L.B.1    Tripathi, R.K.2    King, R.A.3    Spritz, R.A.4
  • 37
    • 0034705048 scopus 로고    scopus 로고
    • Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
    • Halaban RS, Svedine E, Cheng Y, Smicun R, Aron, N, Hebert N. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proc Natl Acad Sci USA 2000;97:5889-5894
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 5889-5894
    • Halaban, R.S.1    Svedine, E.2    Cheng, Y.3    Smicun, R.4    Aron, N.5    Hebert, N.6
  • 38
    • 0034697167 scopus 로고    scopus 로고
    • A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature
    • Berson JF, Frank DW, Calvo PA, Bieler BM, Marks MS. A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. J Biol Chem 2000;275:12281-12289
    • (2000) J Biol Chem , vol.275 , pp. 12281-12289
    • Berson, J.F.1    Frank, D.W.2    Calvo, P.A.3    Bieler, B.M.4    Marks, M.S.5
  • 39
    • 0035871219 scopus 로고    scopus 로고
    • The molecular basis of oculocutaneous albinism type I (OCA1): Sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation
    • Toyofuku K, Wada I, Spritz RA, Hearing VJ. The molecular basis of oculocutaneous albinism type I (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem J 2001;355:259-269
    • (2001) Biochem J , vol.355 , pp. 259-269
    • Toyofuku, K.1    Wada, I.2    Spritz, R.A.3    Hearing, V.J.4
  • 40
    • 0035725326 scopus 로고    scopus 로고
    • Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytes
    • Fryer JP, Oetting WS, Brott MJ, King RA. Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytes. J Invest Dermatol 2001;117:1261-1265
    • (2001) J Invest Dermatol , vol.117 , pp. 1261-1265
    • Fryer, J.P.1    Oetting, W.S.2    Brott, M.J.3    King, R.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.