-
1
-
-
0031020733
-
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies[J]
-
Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies[J]. Nat Genet,1997,15:247-251
-
(1997)
Nat Genet
, vol.15
, pp. 247-251
-
-
Munier, F.L.1
Korvatska, E.2
Djemai, A.3
-
2
-
-
0036207356
-
BIGH3 mutation spectrum in corneal dystrophies[J]
-
Munier FL, Frueh BE, Othenin-Girard P, et al. BIGH3 mutation spectrum in corneal dystrophies[J]. Invest Ophthalmol Vis Sci,2002,43: 949-954
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 949-954
-
-
Munier, F.L.1
Frueh, B.E.2
Othenin-Girard, P.3
-
3
-
-
0032189294
-
Two distinct kerato-epithelin mutations in Reis-B cklers corneal dystrophy[J]
-
Okada M, Yamamoto S, Tsujikawa M, et al. Two distinct kerato-epithelin mutations in Reis-B cklers corneal dystrophy[J]. Am J Ophthalmol, 1998,126:535-542
-
(1998)
Am J Ophthalmol
, vol.126
, pp. 535-542
-
-
Okada, M.1
Yamamoto, S.2
Tsujikawa, M.3
-
4
-
-
17744411573
-
A kerato-epithelin (big-h3) mutation in lattice corneal dystrophy type IIIA[J]
-
Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (big-h3) mutation in lattice corneal dystrophy type IIIA[J]. Am J Hum Genet. 1998,62:719-722
-
(1998)
Am J Hum Genet
, vol.62
, pp. 719-722
-
-
Yamamoto, S.1
Okada, M.2
Tsujikawa, M.3
-
5
-
-
0031682083
-
A new L527R mutation of the BIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities[J]
-
Fujiki K, Hotta Y, Takayasu K, et al. A new L527R mutation of the BIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities[J]. Hum Genet,1998,103:286-289
-
(1998)
Hum Genet
, vol.103
, pp. 286-289
-
-
Fujiki, K.1
Hotta, Y.2
Takayasu, K.3
-
6
-
-
0033983763
-
A new mutation (A546T) of the big-h3 gene responsible for a French lattice corneal dystrophy type IIIA[J]
-
Dighiero P, Drunat S, Ellies P, et al. A new mutation (A546T) of the big-h3 gene responsible for a French lattice corneal dystrophy type IIIA[J]. Am J Ophthalmol,2000,129:248-251
-
(2000)
Am J Ophthalmol
, vol.129
, pp. 248-251
-
-
Dighiero, P.1
Drunat, S.2
Ellies, P.3
-
7
-
-
2442650583
-
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family[J]
-
Klintworth GK, Bao WJ, Afshari NA. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family[J]. Invest Ophthalmol Vis Sci,2004,45:1382-1388
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 1382-1388
-
-
Klintworth, G.K.1
Bao, W.J.2
Afshari, N.A.3
-
8
-
-
17344365347
-
Mutation hot spots in 5q31. 1 linked corneal dystrophies[J]
-
Korvatska E, Munier FL, Djemai A, et al. Mutation hot spots in 5q31. 1 linked corneal dystrophies[J]. Am J Hum Genet,1998,62:320-324
-
(1998)
Am J Hum Genet
, vol.62
, pp. 320-324
-
-
Korvatska, E.1
Munier, F.L.2
Djemai, A.3
-
9
-
-
0036431646
-
BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro implications in the BIGH3-linked corneal dystrophies[J]
-
Schmitt-Bernard CF, Chavanieu A, Herrada G, et al. BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro implications in the BIGH3-linked corneal dystrophies[J]. Eur J Biochem,2002,269:5149-5156
-
(2002)
Eur J Biochem
, vol.269
, pp. 5149-5156
-
-
Schmitt-Bernard, C.F.1
Chavanieu, A.2
Herrada, G.3
-
10
-
-
0034024615
-
A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis[J]
-
Kim JE, Kim EH, Han EH, et al. A TGF-beta-inducible cell adhesion molecule, betaig-h3, is downregulated in melorheostosis and involved in osteogenesis[J]. J Cell Biochem,2000,77:169-178
-
(2000)
J Cell Biochem
, vol.77
, pp. 169-178
-
-
Kim, J.E.1
Kim, E.H.2
Han, E.H.3
-
11
-
-
0031726475
-
Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients[J]
-
Mashima Y, Konishi M, Nakamura Y, et al. Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients[J]. Br J Ophthalmol, 1998,82:12802-12804
-
(1998)
Br J Ophthalmol
, vol.82
, pp. 12802-12804
-
-
Mashima, Y.1
Konishi, M.2
Nakamura, Y.3
-
12
-
-
38049006748
-
-
Chinese source
-
Chinese source
-
-
-
-
13
-
-
11144289980
-
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients[J]
-
Chakravarthi SVVK, Kannabiran C, Sridhar MS, et al. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients[J]. Invest Ophthalmol Vis Sci,2005,46:121-125
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 121-125
-
-
Chakravarthi, S.V.V.K.1
Kannabiran, C.2
Sridhar, M.S.3
-
14
-
-
0036184212
-
Molecular properties of wild-type and mutant BIC-H3 proteins[J]
-
Kim JE, Park RW, Choi JY, et al. Molecular properties of wild-type and mutant BIC-H3 proteins[J]. Invest Ophthalmol Vis Sci,2002,43: 656-661
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 656-661
-
-
Kim, J.E.1
Park, R.W.2
Choi, J.Y.3
-
15
-
-
0034646599
-
Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein[J]
-
Korvatska E, Henry H, Mashima Y, et al. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein[J]. J Biol Chem,2000,15:11465-11469
-
(2000)
J Biol Chem
, vol.15
, pp. 11465-11469
-
-
Korvatska, E.1
Henry, H.2
Mashima, Y.3
-
16
-
-
0347581233
-
Tile molecular genetics of the corneal dystrophies : Current status[J]
-
Klintworth GK. Tile molecular genetics of the corneal dystrophies : current status[J]. Front Biol Sci,2003,8:687-713
-
(2003)
Front Biol Sci
, vol.8
, pp. 687-713
-
-
Klintworth, G.K.1
-
17
-
-
0037417135
-
RGD peptides released from big-h3, a TGF-b-induced cell-adhesive molecule mediate apoptosis[J]
-
Kim JE, Kim SJ, Jeong HW, et al. RGD peptides released from big-h3, a TGF-b-induced cell-adhesive molecule mediate apoptosis[J]. Oncogene, 2003,22:2045-2053
-
(2003)
Oncogene
, vol.22
, pp. 2045-2053
-
-
Kim, J.E.1
Kim, S.J.2
Jeong, H.W.3
-
18
-
-
0037900705
-
Induction of apoptosis in human corneal and hela cells by mutated BIGH3[J]
-
Morand S, Buchillier V, Maurer F, et al. Induction of apoptosis in human corneal and hela cells by mutated BIGH3[J]. Invest Ophthalmol Vis Sci, 2003,44:2973-2979
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 2973-2979
-
-
Morand, S.1
Buchillier, V.2
Maurer, F.3
-
19
-
-
0034613378
-
Identification of motifs for cell adhesion within the repeated domains of transforming growth factor -beta-induced gene, beta ig-h3[J]
-
Kim JE, Kim SJ, Lee BH, et al. Identification of motifs for cell adhesion within the repeated domains of transforming growth factor -beta-induced gene, beta ig-h3[J]. J Biol Chem,2000,275:30907-30915
-
(2000)
J Biol Chem
, vol.275
, pp. 30907-30915
-
-
Kim, J.E.1
Kim, S.J.2
Lee, B.H.3
-
20
-
-
0037008750
-
The TGFbeta-inducible matrix protein betaig-h3 interacts with fibronectin[J]
-
Billings PC, Whitbeck JC, Admas CS, et al. The TGFbeta-inducible matrix protein betaig-h3 interacts with fibronectin[J]. J Biol Chem, 2002,277:28003-28009
-
(2002)
J Biol Chem
, vol.277
, pp. 28003-28009
-
-
Billings, P.C.1
Whitbeck, J.C.2
Admas, C.S.3
-
21
-
-
0041328581
-
Developmental expression patterns of Beta-ig (betaIG-H3) and its function as a cell adhesion protein[J]
-
Ferguson JW, Mikesh MF, Wheeler EF, et al. Developmental expression patterns of Beta-ig (betaIG-H3) and its function as a cell adhesion protein[J]. Mech Dev,2003,120:851-864
-
(2003)
Mech Dev
, vol.120
, pp. 851-864
-
-
Ferguson, J.W.1
Mikesh, M.F.2
Wheeler, E.F.3
-
22
-
-
38049093220
-
-
Chinese source
-
Chinese source
-
-
-
-
23
-
-
33646560354
-
Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy[J]
-
Kochairi IE, Letovanec I, Uffer S, et al. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy[J]. Mol Vis,2006,12:461-466
-
(2006)
Mol Vis
, vol.12
, pp. 461-466
-
-
Kochairi, I.E.1
Letovanec, I.2
Uffer, S.3
|