-
1
-
-
80052520883
-
New international classification of corneal dystrophies (CD)
-
[PMID: 21909874]
-
Lisch W, Seitz B. New international classification of corneal dystrophies (CD). Ophthalmologe 2011; 108:883-96. [PMID: 21909874]
-
(2011)
Ophthalmologe
, vol.108
, pp. 883-896
-
-
Lisch, W.1
Seitz, B.2
-
2
-
-
84926073913
-
IC3D classification of corneal dystrophies
-
[PMID: 21540628]
-
Møller HU, Weiss JS. IC3D classification of corneal dystrophies. Dev Ophthalmol 2011; 48:1-8. [PMID: 21540628]
-
(2011)
Dev Ophthalmol
, vol.48
, pp. 1-8
-
-
Møller, H.U.1
Weiss, J.S.2
-
3
-
-
33745728355
-
TGFBI gene mutations in corneal dystrophies
-
[PMID: 16683255]
-
Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat 2006; 27:615-25. [PMID: 16683255]
-
(2006)
Hum Mutat
, vol.27
, pp. 615-625
-
-
Kannabiran, C.1
Klintworth, G.K.2
-
4
-
-
0035714249
-
The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy
-
[PMID: 11820303]
-
Kiratli H, Irkec M, Ozgul K, Ogus A. The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy. Eur J Ophthalmol 2001; 11:333-7. [PMID: 11820303]
-
(2001)
Eur J Ophthalmol
, vol.11
, pp. 333-337
-
-
Kiratli, H.1
Irkec, M.2
Ozgul, K.3
Ogus, A.4
-
5
-
-
50649107052
-
Ala546>Asp and p. Arg555>Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I
-
[PMID: 18752451]
-
Yu P, Gu Y, Jin F, Hu R, Chen L, Yan X, Yang Y, Qi M. Ala546>Asp and p. Arg555>Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I. Genet Test 2008; 12:421-5. [PMID: 18752451]
-
(2008)
Genet Test
, vol.12
, pp. 421-425
-
-
Yu, P.1
Gu, Y.2
Jin, F.3
Hu, R.4
Chen, L.5
Yan, X.6
Yang, Y.7
Qi, M.8
-
6
-
-
67649653580
-
TGFBI (BIGH3) gene mutations in German families: Two novel mutations associated with unique clinical and histopathological findings
-
[PMID: 19001012]
-
Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Volcker HE, Schulze DP, Heinritz W, Reinhard T, Froster U, Duncker G, Schorderet D, Auw-Haedrich C. TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings. Br J Ophthalmol 2009; 93:932-7. [PMID: 19001012]
-
(2009)
Br J Ophthalmol
, vol.93
, pp. 932-937
-
-
Gruenauer-Kloevekorn, C.1
Clausen, I.2
Weidle, E.3
Wolter-Roessler, M.4
Tost, F.5
Volcker, H.E.6
Schulze, D.P.7
Heinritz, W.8
Reinhard, T.9
Froster, U.10
Duncker, G.11
Schorderet, D.12
Auw-Haedrich, C.13
-
7
-
-
77955608544
-
TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies
-
[PMID: 20680100]
-
Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Kaur P, Dube D, Vajpayee RB. TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies. Mol Vis 2010; 16:1429-38. [PMID: 20680100]
-
(2010)
Mol Vis
, vol.16
, pp. 1429-1438
-
-
Paliwal, P.1
Sharma, A.2
Tandon, R.3
Sharma, N.4
Titiyal, J.S.5
Sen, S.6
Kaur, P.7
Dube, D.8
Vajpayee, R.B.9
-
8
-
-
11144289980
-
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients
-
[PMID: 15623763]
-
Chakravarthi SV, Kannabiran C, Sridhar MS, Vemuganti GK. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest Ophthalmol Vis Sci 2005; 46:121-5. [PMID: 15623763]
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 121-125
-
-
Chakravarthi, S.V.1
Kannabiran, C.2
Sridhar, M.S.3
Vemuganti, G.K.4
-
9
-
-
77955621841
-
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature
-
[PMID: 20664689]
-
Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M, Ma X. Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature. Mol Vis 2010; 16:1186-93. [PMID: 20664689]
-
(2010)
Mol Vis
, vol.16
, pp. 1186-1193
-
-
Yang, J.1
Han, X.2
Huang, D.3
Yu, L.4
Zhu, Y.5
Tong, Y.6
Zhu, B.7
Li, C.8
Weng, M.9
Ma, X.10
-
10
-
-
33745222089
-
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene
-
[PMID: 16809844]
-
Yu P, Gu Y, Yang Y, Yan X, Chen L, Ge Z, Qi M, Si J, Guo L. A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. J Genet 2006; 85:73-6. [PMID: 16809844]
-
(2006)
J Genet
, vol.85
, pp. 73-76
-
-
Yu, P.1
Gu, Y.2
Yang, Y.3
Yan, X.4
Chen, L.5
Ge, Z.6
Qi, M.7
Si, J.8
Guo, L.9
-
11
-
-
0037417135
-
RGD peptides released from beta ig-h3, a TGFbeta-induced cell-adhesive molecule, mediate apoptosis
-
[PMID: 12673209]
-
Kim JE, Kim SJ, Jeong HW, Lee BH, Choi JY, Park RW, Park JY, Kim IS. RGD peptides released from beta ig-h3, a TGFbeta-induced cell-adhesive molecule, mediate apoptosis. Oncogene 2003; 22:2045-53. [PMID: 12673209]
-
(2003)
Oncogene
, vol.22
, pp. 2045-2053
-
-
Kim, J.E.1
Kim, S.J.2
Jeong, H.W.3
Lee, B.H.4
Choi, J.Y.5
Park, R.W.6
Park, J.Y.7
Kim, I.S.8
-
12
-
-
11044229726
-
Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneas
-
[PMID: 15610032]
-
Andersen RB, Karring H, Moller-Pedersen T, Valnickova Z, Thogersen IB, Hedegaard CJ, Kristensen T, Klintworth GK, Enghild JJ. Purification and structural characterization of transforming growth factor beta induced protein (TGFBIp) from porcine and human corneas. Biochemistry 2004; 43:16374-84. [PMID: 15610032]
-
(2004)
Biochemistry
, vol.43
, pp. 16374-16384
-
-
Andersen, R.B.1
Karring, H.2
Moller-Pedersen, T.3
Valnickova, Z.4
Thogersen, I.B.5
Hedegaard, C.J.6
Kristensen, T.7
Klintworth, G.K.8
Enghild, J.J.9
-
13
-
-
0028168425
-
Beta ig-h3: A transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice
-
[PMID: 8024701]
-
Skonier J, Bennett K, Rothwell V, Kosowski S, Plowman G, Wallace P, Edelhoff S, Disteche C, Neubauer M, Marquardt H. beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. DNA Cell Biol 1994; 13:571-84. [PMID: 8024701]
-
(1994)
DNA Cell Biol
, vol.13
, pp. 571-584
-
-
Skonier, J.1
Bennett, K.2
Rothwell, V.3
Kosowski, S.4
Plowman, G.5
Wallace, P.6
Edelhoff, S.7
Disteche, C.8
Neubauer, M.9
Marquardt, H.10
-
14
-
-
0346670134
-
A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies
-
[PMID: 14502125]
-
Clout NJ, Hohenester E. A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies. Mol Vis 2003; 9:440-8. [PMID: 14502125]
-
(2003)
Mol Vis
, vol.9
, pp. 440-448
-
-
Clout, N.J.1
Hohenester, E.2
-
15
-
-
10444226462
-
ER stress and the unfolded protein response
-
[PMID: 15603751]
-
Schröder M, Kaufman RJ. ER stress and the unfolded protein response. Mutat Res 2005; 569:29-63. [PMID: 15603751]
-
(2005)
Mutat Res
, vol.569
, pp. 29-63
-
-
Schröder, M.1
Kaufman, R.J.2
-
16
-
-
79952842932
-
The critical role of GRP78 in physiologic and pathologic stress
-
[PMID: 20970977]
-
Pfaffenbach KT, Lee AS. The critical role of GRP78 in physiologic and pathologic stress. Curr Opin Cell Biol 2011; 23:150-6. [PMID: 20970977]
-
(2011)
Curr Opin Cell Biol
, vol.23
, pp. 150-156
-
-
Pfaffenbach, K.T.1
Lee, A.S.2
-
17
-
-
68949202516
-
Role of the unfolded protein response regulator GRP78/BiP in development, cancer, and neurological disorders
-
[PMID: 19309259]
-
Wang M, Wey S, Zhang Y, Ye R, Lee AS. Role of the unfolded protein response regulator GRP78/BiP in development, cancer, and neurological disorders. Antioxid Redox Signal 2009; 11:2307-16. [PMID: 19309259]
-
(2009)
Antioxid Redox Signal
, vol.11
, pp. 2307-2316
-
-
Wang, M.1
Wey, S.2
Zhang, Y.3
Ye, R.4
Lee, A.S.5
-
18
-
-
68149136657
-
Cellular responses to endoplasmic reticulum stress and apoptosis
-
[PMID: 19360473]
-
Rasheva VI, Domingos PM. Cellular responses to endoplasmic reticulum stress and apoptosis. Apoptosis 2009; 14:996-1007. [PMID: 19360473]
-
(2009)
Apoptosis
, vol.14
, pp. 996-1007
-
-
Rasheva, V.I.1
Domingos, P.M.2
-
19
-
-
66149156941
-
ER stress and unfolded protein response in amyotrophic lateral sclerosis
-
[PMID: 19184563]
-
Kanekura K, Suzuki H, Aiso S, Matsuoka M. ER stress and unfolded protein response in amyotrophic lateral sclerosis. Mol Neurobiol 2009; 39:81-9. [PMID: 19184563]
-
(2009)
Mol Neurobiol
, vol.39
, pp. 81-89
-
-
Kanekura, K.1
Suzuki, H.2
Aiso, S.3
Matsuoka, M.4
-
20
-
-
0032484931
-
Blocking apoptosis prevents blindness in Drosophila retinal degeneration mutants
-
[PMID: 9468136]
-
Davidson FF, Steller H. Blocking apoptosis prevents blindness in Drosophila retinal degeneration mutants. Nature 1998; 391:587-91. [PMID: 9468136]
-
(1998)
Nature
, vol.391
, pp. 587-591
-
-
Davidson, F.F.1
Steller, H.2
-
21
-
-
24144473671
-
Rhodopsin maturation defects induce photoreceptor death by apoptosis: A fly model for RhodopsinPro23His human retinitis pigmentosa
-
[PMID: 16049034]
-
Galy A, Roux MJ, Sahel JA, Leveillard T, Giangrande A. Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. Hum Mol Genet 2005; 14:2547-57. [PMID: 16049034]
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2547-2557
-
-
Galy, A.1
Roux, M.J.2
Sahel, J.A.3
Leveillard, T.4
Giangrande, A.5
-
22
-
-
67349155932
-
Cellular stress/the unfolded protein response: Relevance to sleep and sleep disorders
-
[PMID: 19329340]
-
Naidoo N. Cellular stress/the unfolded protein response: relevance to sleep and sleep disorders. Sleep Med Rev 2009; 13:195-204. [PMID: 19329340]
-
(2009)
Sleep Med Rev
, vol.13
, pp. 195-204
-
-
Naidoo, N.1
-
23
-
-
0030808558
-
Endoplasmic reticulum stress-induced mRNA splicing permits synthesis of transcription factor Hac1p/Ern4p that activates the unfolded protein response
-
[PMID: 9348528]
-
Kawahara T, Yanagi H, Yura T, Mori K. Endoplasmic reticulum stress-induced mRNA splicing permits synthesis of transcription factor Hac1p/Ern4p that activates the unfolded protein response. Mol Biol Cell 1997; 8:1845-62. [PMID: 9348528]
-
(1997)
Mol Biol Cell
, vol.8
, pp. 1845-1862
-
-
Kawahara, T.1
Yanagi, H.2
Yura, T.3
Mori, K.4
-
25
-
-
0034613378
-
Identification of motifs for cell adhesion within the repeated domains of transforming growth factor-beta-induced gene, beta ig-h3
-
[PMID: 10906123]
-
Kim JE, Kim SJ, Lee BH, Park RW, Kim KS, Kim IS. Identification of motifs for cell adhesion within the repeated domains of transforming growth factor-beta-induced gene, beta ig-h3. J Biol Chem 2000; 275:30907-15. [PMID: 10906123]
-
(2000)
J Biol Chem
, vol.275
, pp. 30907-30915
-
-
Kim, J.E.1
Kim, S.J.2
Lee, B.H.3
Park, R.W.4
Kim, K.S.5
Kim, I.S.6
-
26
-
-
0034646599
-
Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from keratoepithelin mutations at Arg-124 are associated with abnormal turnover of the protein
-
[PMID: 10753964]
-
Korvatska E, Henry H, Mashima Y, Yamada M, Bachmann C, Munier FL, Schorderet DF. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from keratoepithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem 2000; 275:11465-9. [PMID: 10753964]
-
(2000)
J Biol Chem
, vol.275
, pp. 11465-11469
-
-
Korvatska, E.1
Henry, H.2
Mashima, Y.3
Yamada, M.4
Bachmann, C.5
Munier, F.L.6
Schorderet, D.F.7
-
27
-
-
0141941262
-
Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bucklers dystrophy). Identification by mass spectrometry in 15 year old two-dimensional protein gels
-
[PMID: 12942051]
-
Hedegaard CJ, Thogersen IB, Enghild JJ, Klintworth GK, Moller-Pedersen T. Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bucklers dystrophy). Identification by mass spectrometry in 15 year old two-dimensional protein gels. Mol Vis 2003; 9:355-9. [PMID: 12942051]
-
(2003)
Mol Vis
, vol.9
, pp. 355-359
-
-
Hedegaard, C.J.1
Thogersen, I.B.2
Enghild, J.J.3
Klintworth, G.K.4
Moller-Pedersen, T.5
-
28
-
-
67749096200
-
Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome
-
[PMID: 19478074]
-
Kim BY, Olzmann JA, Choi SI, Ahn SY, Kim TI, Cho HS, Suh H, Kim EK. Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome. J Biol Chem 2009; 284:19580-91. [PMID: 19478074]
-
(2009)
J Biol Chem
, vol.284
, pp. 19580-19591
-
-
Kim, B.Y.1
Olzmann, J.A.2
Choi, S.I.3
Ahn, S.Y.4
Kim, T.I.5
Cho, H.S.6
Suh, H.7
Kim, E.K.8
-
29
-
-
33751196588
-
Induction of endoplasmic reticulum stress in retinal pericytes by glucose deprivation
-
[PMID: 17114120]
-
Ikesugi K, Mulhern ML, Madson CJ, Hosoya K, Terasaki T, Kador PF, Shinohara T. Induction of endoplasmic reticulum stress in retinal pericytes by glucose deprivation. Curr Eye Res 2006; 31:947-53. [PMID: 17114120]
-
(2006)
Curr Eye Res
, vol.31
, pp. 947-953
-
-
Ikesugi, K.1
Mulhern, M.L.2
Madson, C.J.3
Hosoya, K.4
Terasaki, T.5
Kador, P.F.6
Shinohara, T.7
-
30
-
-
0346034856
-
Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice
-
[PMID: 12659845]
-
Tobisawa S, Hozumi Y, Arawaka S, Koyama S, Wada M, Nagai M, Aoki M, Itoyama Y, Goto K, Kato T. Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice. Biochem Biophys Res Commun 2003; 303:496-503. [PMID: 12659845]
-
(2003)
Biochem Biophys Res Commun
, vol.303
, pp. 496-503
-
-
Tobisawa, S.1
Hozumi, Y.2
Arawaka, S.3
Koyama, S.4
Wada, M.5
Nagai, M.6
Aoki, M.7
Itoyama, Y.8
Goto, K.9
Kato, T.10
-
31
-
-
0036184212
-
Molecular properties of wild-type and mutant betaIG-H3 proteins
-
[PMID: 11867580]
-
Kim JE, Park RW, Choi JY, Bae YC, Kim KS, Joo CK, Kim IS. Molecular properties of wild-type and mutant betaIG-H3 proteins. Invest Ophthalmol Vis Sci 2002; 43:656-61. [PMID: 11867580]
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 656-661
-
-
Kim, J.E.1
Park, R.W.2
Choi, J.Y.3
Bae, Y.C.4
Kim, K.S.5
Joo, C.K.6
Kim, I.S.7
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