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Volumn 9, Issue 19, 2000, Pages 2781-2788

Oa1 knock-out: New insights on the pathogenesis of ocular albinism type 1

(14) Incerti, Barbara a Cortese, Katia b Pizzigoni, Alessandro a Surace, Enrico M a Varani, Simona a,g Coppola, Massimiliano a Jeffery, Glen c Seeliger, Mathias d Jaissle, Gesine d Bennett, Dorothy C e Marigo, Valeria a Schiaffino, Maria Vittoria a Tacchetti, Carlo b Ballabio, Andrea a,f

a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM (Italy)

b UNIVERSITY OF GENOA (Italy)

c UNIVERSITY COLLEGE LONDON (United Kingdom)

d UNIVERSITY HOSPITAL TÜBINGEN (Germany)

e ST GEORGE'S UNIVERSITY OF LONDON (United Kingdom)

f VITA SALUTE SAN RAFFAELE UNIVERSITY (Italy)

g BAYLOR COLLEGE OF MEDICINE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL GROWTH; CELL ULTRASTRUCTURE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTRON MICROSCOPY; FEMALE; FETUS; GENE TARGETING; HUMAN; HUMAN CELL; HYPOPIGMENTATION; KNOCKOUT GENE; KNOCKOUT MOUSE; MALE; MELANOCYTE; MELANOSOME; MICROSCOPY; MOUSE; MOUSE MUTANT; NONHUMAN; NYSTAGMUS; OCULAR ALBINISM; OPHTHALMOSCOPY; PATHOGENESIS; PHOTOPHOBIA; PIGMENT CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROGENY; STRABISMUS; VISUAL IMPAIRMENT; X CHROMOSOME LINKAGE;

ANIMALIA;

EID: 0034703862 PISSN: 09646906 EISSN: None Source Type: Journal
DOI: 10.1093/hmg/9.19.2781 Document Type: Article

Times cited : (85)

References (35)

1
- 0000189661
- Albinism
- Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill, New York, NY, Chapter 147
- (1989) , pp. 4353-4392
- Witkop C.J., Jr.¹ Quevedo W.C., Jr.² Fitzpatrick, T.B.³ King, R.A.⁴

2
- 0007099131
- Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 10th edn, The Johns Hopkins University Press, Baltimore, MD.
- (1992)
- McKusick, V.A.¹ Francomano, C.A.² Antonarakis, S.E.³

3
- 84907115149
- X-linked ocular albinism. Characteristic pattern of affection in female carriers
- (1990) Ophthalmic Paediatr. Genet. , vol.11 , pp. 265-271
- Lang, G.E.¹ Rott, H.D.² Pfeiffer, R.A.³

4
- 0017027276
- X-linked ocular albinism: An oculocutaneous macromelanosomal disorder
- (1976) Arch. Ophthalmol. , vol.94 , pp. 1883-1892
- O'Donnell F.E., Jr.¹ Hambrick G.W., Jr.² Green, W.R.³ Iliff, W.J.⁴ Stone, D.L.⁵

5
- 0023887328
- (1988) Albinism. Dermatol. Clin. , vol.6 , pp. 217-228
- King, R.A.¹ Summers, C.G.²

6
- 84907115188
- Visual anomalies associated with albinism
- (1990) Ophthalmic Paediatr. Genet. , vol.11 , pp. 193-200
- Creel, D.J.¹ Summers, C.G.² King, R.A.³

7
- 84907113108
- Aspects of albinism
- (1992) Ophthalmic Paediatr. Genet. , vol.13 , pp. 89-100
- Kriss, A.¹ Russell-Eggitt, I.² Harris, C.M.³ Lloyd, I.C.⁴ Taylor, D.⁵

8
- 0018894668
- Macromelanosomes in X-linked ocular albinism
- (1980) Histopathology , vol.4 , pp. 243-254
- Garner, A.¹ Jay, B.S.²

9
- 0020625430
- Giant pigment granules in the retinal pigment epithelium of a fetus with X-linked ocular albinism
- (1983) Ophthalmic Paediatr. Genet. , vol.2 , pp. 47-65
- Wong, L.¹ O'Donnell F.E., Jr.² Green, W.R.³

10
- 0021917976
- Macromelanosomes in X-linked ocular albinism (XLOA)
- (1985) Acta Derm. Venereol. , vol.65 , pp. 66-69
- Yoshiike, T.¹ Manabe, M.² Hayakawa, M.³ Ogawa, H.⁴

11
- 0025970324
- Linkage analysis in X-linked ocular albinism
- (1991) Genomics , vol.9 , pp. 605-613
- Schnur, R.E.¹ Nussbaum, R.L.² Anson-Cartwright, L.³ McDowell, C.⁴ Worton, R.G.⁵ Musarella, M.A.⁶

12
- 0026895136
- Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses
- (1992) Hum. Mol. Genet. , vol.1 , pp. 221-227
- Ballabio, A.¹ Andria, G.²

13
- 0027291742
- A high resolution deletion map of human chromosome Xp22
- (1993) Nature Genet. , vol.4 , pp. 272-279
- Schaefer, L.¹ Ferrero, G.B.² Grillo, A.³ Bassi, M.T.⁴ Roth, E.J.⁵ Wapenaar, M.C.⁶ van Ommen, G.J.B.⁷ Mohandas, T.K.⁸ Rocchi, M.⁹ Zoghbi, H.Y.¹⁰ Ballabio, A.¹¹

14
- 0029059066
- Cloning of the gene for ocular albinism type 1 from the distal short ann of the X chromosome
- (1995) Nature Genet. , vol.10 , pp. 13-19
- Bassi, M.T.¹ Schiaffino, M.V.² Renieri, A.³ De Nigris, F.⁴ Galli, L.⁵ Bruttini, M.⁶ Gebbia, M.⁷ Bergen, A.A.B.⁸ Lewis, R.A.⁹ Ballabio, A.¹⁰

15
- 0029786525
- The Ocular Albinism type 1 (OA1) gene product is a membrane glycoprotein localized to melanosomes
- (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 9055-9060
- Schiaffino, M.V.¹ Baschirotto, C.² Pellegrini, G.³ Montalti, S.⁴ Tacchetti, C.⁵ De Luca, M.⁶ Ballabio, A.⁷

16
- 0032820144
- Ocular albinism: Evidence for a defect in an intracellular signal transduction system
- (1999) Nature Genet. , vol.23 , pp. 108-112
- Schiaffino, M.V.¹ d'Addio, M.² Alloni, A.³ Baschirotto, C.⁴ Valetti, C.⁵ Cortese, K.⁶ Puri, C.⁷ Bassi, M.T.⁸ Colla, C.⁹ De Luca, M.¹⁰

17
- 0030226673
- Cloning of the murine homologue of the Ocular Albinism type 1 (OA1) gene: Sequence, genomic structure and expression analysis in pigment cells
- (1996) Genome Res. , vol.6 , pp. 880-885
- Bassi, M.T.¹ Incerti, B.² Easty, D.J.³ Sviderskaya, E.V.⁴ Ballabio, A.⁵

18
- 0007050067
- The Mouse: Its Reproduction and Development. Oxford University Press, Oxford, UK.
- (1990)
- Rugh, R.¹

19
- 0026572479
- Expression of the mouse tyrosinase gene during embryonic development: Recapitulation of the temporal regulation in transgenic mice
- (1992) Proc. Natl Acad. Sci: USA , vol.89 , pp. 2809-2813
- Beermann, F.¹ Schmid, E.² Schutz, G.³

20
- 0031471848
- Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)
- [Erratum n (1998) Ophthalmic Genet., 19, 173].
- (1997) Ophthalmic Genet. , vol.18 , pp. 175-184
- Lam, B.L.¹ Fingert, J.H.² Shutt, B.C.³ Singleton, E.M.⁴ Merin, L.M.⁵ Brown, H.H.⁶ Sheffield, V.C.⁷ Stone, E.M.⁸

21
- 0024817187
- Electroretinographic findings in human oculocutaneous albinism
- (1989) Ophthalmology , vol.96 , pp. 1778-1785
- Wack, M.A.¹ Peachey, N.S.² Fishman, G.A.³

22
- 0007141239
- Electrophysiologic Testing. American Academy of Ophthalmology, San Francisco, CA.
- (1990)
- Fishman, G.A.¹ Sokol, S.²

23
- 0017170141
- Some aspects of melanin biology: 1950-1975
- (1976) J. Invest. Dermatol. , vol.67 , pp. 72-89
- Jimbow, K.¹ Quevedo W.C., Jr.² Fitzpatrick, T.B.³ Szabo, G.⁴

24
- 0016156388
- The giant melanosome: A model of deranged melanosome-morphogenesis
- (1974) J Ultrastruct. Res. , vol.48 , pp. 102-123
- Konrad, K.¹ Wolff, K.² Honigsmann, H.³

25
- 0039109678
- A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3
- (1998) EMBO J. , vol.17 , pp. 1304-1314
- Honing, S.¹ Sandoval, I.V.² von Figura, K.³

26
- 0015295488
- Light and electron microscopic observations on the pigmented layers of the developing human eye
- (1972) Am. J. Ophthalmol. , vol.73 , pp. 167-182
- Mund, M.L.¹ Rodrigues, M.M.² Fine, B.S.³

27
- 0018340717
- Autosomal dominant dystrophy of the retinal pigment epithelium
- (1979) Arch. Ophthalmol. , vol.97 , pp. 680-683
- O'Donnell, F.E.¹ Schatz, H.² Reid, P.³ Green, W.R.⁴

28
- 0019251726
- Growth characteristics and ultrastructure of human retinal pigment epithelium in vitro
- (1980) Invest. Ophthalmol. Vis. Sci. , vol.19 , pp. 1309-1320
- Flood, M.T.¹ Gouras, P.² Kjeldbye, H.³

29
- 0030006925
- Why do albinos and other hypopigmented mutants lack normal binocular vision and what else is abnormal in their central visual pathways?
- (1996) Eye , vol.10 , pp. 217-221
- Guillery, R.W.¹

30
- 0018833765
- Origins of crossed and uncrossed retinal projections in pigmented and albino mice
- (1980) J. Comp. Neurol. , vol.191 , pp. 383-412
- Drager, U.C.¹ Olsen, J.F.²

31
- 0026023289
- Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice
- (1991) Cell , vol.64 , pp. 693-702
- Soriano, P.¹ Montgomery, C.² Geske, R.³ Bradley, A.⁴

32
- 0033595022
- Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3
- (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 7553-7557
- Biel, M.¹ Seeliger, M.² Pfeifer, A.³ Kohler, K.⁴ Gerstner, A.⁵ Ludwig, A.⁶ Jaissle, G.⁷ Fauser, S.⁸ Zrenner, E.⁹ Hofmann, F.¹⁰

33
- 0021812172
- A new stabilizing agent for the tetramethyl benzidine (TMB) reaction product in the histochemical detection of horseradish peroxidase (HRP)
- (1985) J. Neurosci. Methods , vol.13 , pp. 131-138
- Olucha, F.¹ Martinez-Garcia, F.² Lopez-Garcia, C.³

34
- 0024595683
- Cloned mouse melanocyte lines carrying the germline mutations albino and brown: Complementation in culture
- (1989) Development , vol.105 , pp. 379-385
- Bennett, D.¹ Cooper, P.² Dexter, T.³ Devlin, L.⁴ Heasman, J.⁵ Nester, B.⁶

35
- 0031026542
- Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences
- (1997) J. Invest. Dermatol. , vol.108 , pp. 30-34
- Sviderskaya, E.V.¹ Bennett, D.C.² Ho, L.³ Bailin, T.⁴ Lee, S.T.⁵ Spritz, R.A.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.