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Volumn 13, Issue , 2007, Pages 1441-1445

Exclusion of TACSTD2 in an Iranian GDLD pedigree

Author keywords

[No Author keywords available]

Indexed keywords

TUMOR ANTIGEN; TUMOR ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; UNCLASSIFIED DRUG;

EID: 34548139047     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (31)
  • 1
    • 0001001932 scopus 로고
    • A rare case of corneal dystrophy
    • Nakaizumi G. A rare case of corneal dystrophy. Acta Soc Ophthalmol Jpn 1914; 18:949-50.
    • (1914) Acta Soc Ophthalmol Jpn , vol.18 , pp. 949-950
    • Nakaizumi, G.1
  • 3
    • 0018904839 scopus 로고
    • Gelatinous drop-like dystrophy. A form of primary corneal amyloidosis
    • Weber FL, Babel J. Gelatinous drop-like dystrophy. A form of primary corneal amyloidosis. Arch Ophthalmol 1980; 98:144-8.
    • (1980) Arch Ophthalmol , vol.98 , pp. 144-148
    • Weber, F.L.1    Babel, J.2
  • 4
    • 0020394602 scopus 로고
    • The origin of amyloid in gelatinous drop-like corneal dystrophy
    • Ohnishi Y, Shinoda Y, Ishibashi T, Taniguchi Y. The origin of amyloid in gelatinous drop-like corneal dystrophy. Curr Eye Res 1982-1983; 2:225-31.
    • (1982) Curr Eye Res , vol.2 , pp. 225-231
    • Ohnishi, Y.1    Shinoda, Y.2    Ishibashi, T.3    Taniguchi, Y.4
  • 5
    • 0024205666 scopus 로고
    • Light and electron microscopic study of gelatinous drop-like corneal dystrophy with deeper stromal involvement]
    • Fujita S, Sameshima M, Hirashima S, Nakao K. [Light and electron microscopic study of gelatinous drop-like corneal dystrophy with deeper stromal involvement]. Nippon Ganka Gakkai Zasshi 1988; 92:1744-57.
    • (1988) Nippon Ganka Gakkai Zasshi , vol.92 , pp. 1744-1757
    • Fujita, S.1    Sameshima, M.2    Hirashima, S.3    Nakao, K.4
  • 6
    • 0002522755 scopus 로고
    • Corneal dystrophies and degenerations
    • Smolin G, Tofts RA, editors, 3rd ed. Boston: Little, Brown;
    • Smolin G. Corneal dystrophies and degenerations. In: Smolin G, Tofts RA, editors. The Cornea: Scientific Foundations and Clincal Practice. 3rd ed. Boston: Little, Brown; 1994. p. 499-533.
    • (1994) The Cornea: Scientific Foundations and Clincal Practice , pp. 499-533
    • Smolin, G.1
  • 8
    • 0347581233 scopus 로고    scopus 로고
    • The molecular genetics of the corneal dystrophies - current status
    • Klintworth GK. The molecular genetics of the corneal dystrophies - current status. Front Biosci 2003; 8:d687-713.
    • (2003) Front Biosci , vol.8
    • Klintworth, G.K.1
  • 10
    • 0035045052 scopus 로고    scopus 로고
    • Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization
    • Calabrese G, Crescenzi C, Morizio E, Palka G, Guerra E, Alberti S. Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization. Cytogenet Cell Genet 2001; 92:164-5.
    • (2001) Cytogenet Cell Genet , vol.92 , pp. 164-165
    • Calabrese, G.1    Crescenzi, C.2    Morizio, E.3    Palka, G.4    Guerra, E.5    Alberti, S.6
  • 13
    • 0037373685 scopus 로고    scopus 로고
    • A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy
    • Ha NT, Chau HM, Cung le X, Thanh TK, Fujiki K, Murakami A, Kanai A. A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy. Am J Ophthalmol 2003; 135:390-3.
    • (2003) Am J Ophthalmol , vol.135 , pp. 390-393
    • Ha, N.T.1    Chau, H.M.2    Cung le, X.3    Thanh, T.K.4    Fujiki, K.5    Murakami, A.6    Kanai, A.7
  • 15
    • 33845738288 scopus 로고    scopus 로고
    • A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy
    • Markoff A, Bogdanova N, Uhlig CE, Groppe M, Horst J, Kennerknecht I. A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. Mol Vis 2006; 12:1473-6.
    • (2006) Mol Vis , vol.12 , pp. 1473-1476
    • Markoff, A.1    Bogdanova, N.2    Uhlig, C.E.3    Groppe, M.4    Horst, J.5    Kennerknecht, I.6
  • 16
    • 0033833217 scopus 로고    scopus 로고
    • Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: The P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy
    • Ha NT, Fujiki K, Hotta Y, Nakayasu K, Kanai A. Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. Am J Ophthalmol 2000; 130:119-20.
    • (2000) Am J Ophthalmol , vol.130 , pp. 119-120
    • Ha, N.T.1    Fujiki, K.2    Hotta, Y.3    Nakayasu, K.4    Kanai, A.5
  • 19
    • 3543033422 scopus 로고    scopus 로고
    • Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy
    • Murakami A, Kimura S, Fujiki K, Fujimaki T, Kanai A. Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy. Jpn J Ophthalmol 2004; 48:317-20.
    • (2004) Jpn J Ophthalmol , vol.48 , pp. 317-320
    • Murakami, A.1    Kimura, S.2    Fujiki, K.3    Fujimaki, T.4    Kanai, A.5
  • 21
    • 0033462204 scopus 로고    scopus 로고
    • Advances in the molecular genetics of corneal dystrophies
    • Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol 1999; 128:747-54.
    • (1999) Am J Ophthalmol , vol.128 , pp. 747-754
    • Klintworth, G.K.1
  • 24
    • 14644398011 scopus 로고    scopus 로고
    • Gelatinous drop-like corneal dystrophy in a child with developmental delay: Clinicopathological features and exclusion of the M1S1 gene
    • Akhtar S, Bron AJ, Qin X, Creer RC, Guggenheim JA, Meek KM. Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene. Eye 2005; 19:198-204.
    • (2005) Eye , vol.19 , pp. 198-204
    • Akhtar, S.1    Bron, A.J.2    Qin, X.3    Creer, R.C.4    Guggenheim, J.A.5    Meek, K.M.6
  • 27
    • 0029973094 scopus 로고    scopus 로고
    • Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells
    • Jacobson A, Peltz SW. Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells. Annu Rev Biochem 1996; 65:693-739.
    • (1996) Annu Rev Biochem , vol.65 , pp. 693-739
    • Jacobson, A.1    Peltz, S.W.2
  • 30
    • 33745728414 scopus 로고    scopus 로고
    • A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: General principles and overview
    • Chen JM, Ferec C, Cooper DN. A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet 2006; 120:1-21.
    • (2006) Hum Genet , vol.120 , pp. 1-21
    • Chen, J.M.1    Ferec, C.2    Cooper, D.N.3
  • 31
    • 34548108783 scopus 로고    scopus 로고
    • 4th Ed. Philadelphia: W.B. Saunders;
    • Spencer WH. Ophthalmic Pathology, Vol 1. 4th Ed. Philadelphia: W.B. Saunders; 1996. p. 252-255.
    • (1996) Ophthalmic Pathology , vol.1 , pp. 252-255
    • Spencer, W.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.