-
2
-
-
70349384227
-
A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract
-
19595763 1:CAS:528:DC%2BD1MXhtF2jsrrL
-
SG Bhagyalaxmi P Srinivas KA Barton KR Kumar M Vidyavathi JM Petrash G Bhanuprakash Reddy T Padma 2009 A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract Biochim Biophys Acta 1792 974 981 19595763 1:CAS:528:DC%2BD1MXhtF2jsrrL
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 974-981
-
-
Bhagyalaxmi, S.G.1
Srinivas, P.2
Barton, K.A.3
Kumar, K.R.4
Vidyavathi, M.5
Petrash, J.M.6
Bhanuprakash Reddy, G.7
Padma, T.8
-
3
-
-
33745728711
-
MET-IDEA: Data extraction tool for mass spectrometry-based metabolomics
-
16808440 10.1021/ac0521596 1:CAS:528:DC%2BD28Xlt1Gisbs%3D
-
CD Broeckling IR Reddy AL Duran X Zhao LW Sumner 2006 MET-IDEA: data extraction tool for mass spectrometry-based metabolomics Anal Chem 78 4334 4341 16808440 10.1021/ac0521596 1:CAS:528:DC%2BD28Xlt1Gisbs%3D
-
(2006)
Anal Chem
, vol.78
, pp. 4334-4341
-
-
Broeckling, C.D.1
Reddy, I.R.2
Duran, A.L.3
Zhao, X.4
Sumner, L.W.5
-
4
-
-
0020631979
-
Source of cholesterol for the ocular lens, studied with U18666A: A cataract-producing inhibitor of lipid metabolism
-
RJ Cenedella 1983 Source of cholesterol for the ocular lens, studied with U18666A: a cataract-producing inhibitor of lipid metabolism Exp Eye Res 37 33 43 6873203 10.1016/0014-4835(83)90147-1 1:CAS:528:DyaL3sXkvVGlu7o%3D (Pubitemid 13075034)
-
(1983)
Experimental Eye Research
, vol.37
, Issue.1
, pp. 33-43
-
-
Cenedella, R.J.1
-
5
-
-
0030026343
-
Cholesterol and cataracts
-
DOI 10.1016/S0039-6257(96)82007-8
-
RJ Cenedella 1996 Cholesterol and cataracts Surv Ophthalmol 40 320 337 8658343 10.1016/S0039-6257(96)82007-8 1:STN:280:DyaK283hsVKmtw%3D%3D (Pubitemid 26046210)
-
(1996)
Survey of Ophthalmology
, vol.40
, Issue.4
, pp. 320-337
-
-
Cenedella, R.J.1
-
6
-
-
32544446601
-
Mouse models of ocular diseases
-
DOI 10.1017/S0952523805225075, PII S0952523805225075
-
B Chang NL Hawes RE Hurd J Wang D Howell MT Davisson TH Roderick S Nusinowitz JR Heckenlively 2005 Mouse models of ocular diseases Vis Neurosci 22 587 593 16332269 10.1017/S0952523805225075 1:STN:280:DC%2BD2Mnlt1eqsQ%3D%3D (Pubitemid 43237753)
-
(2005)
Visual Neuroscience
, vol.22
, Issue.5
, pp. 587-593
-
-
Chang, B.1
Hawes, N.L.2
Hurd, R.E.3
Wang, J.4
Howell, D.5
Davisson, M.T.6
Roderick, T.H.7
Nusinowitz, S.8
Heckenlively, J.R.9
-
7
-
-
58149442730
-
Anatomy of lens and pathology of cataracts
-
14021964 10.1016/S0014-4835(62)80013-X 1:STN:280:DyaF383htl2gsw%3D%3D
-
DG Cogan 1962 Anatomy of lens and pathology of cataracts Exp Eye Res 1 291 295 14021964 10.1016/S0014-4835(62)80013-X 1:STN:280:DyaF383htl2gsw%3D%3D
-
(1962)
Exp Eye Res
, vol.1
, pp. 291-295
-
-
Cogan, D.G.1
-
8
-
-
1842425722
-
Prevalence of Cataract and Pseudophakia/Aphakia among Adults in the United States
-
DOI 10.1001/archopht.122.4.487
-
N Congdon JR Vingerling BE Klein S West DS Friedman J Kempen B O'Colmain SY Wu HR Taylor 2004 Prevalence of cataract and pseudophakia/aphakia among adults in the United States Arch Ophthalmol 122 487 494 15078665 10.1001/archopht.122.4.487 (Pubitemid 38456283)
-
(2004)
Archives of Ophthalmology
, vol.122
, Issue.4
, pp. 487-494
-
-
Congdon, N.1
-
9
-
-
0037313489
-
Cigarette smoking as a risk factor for cataract and age-related macular degeneration: A review of the literature
-
SS DeBlack 2003 Cigarette smoking as a risk factor for cataract and age-related macular degeneration: a review of the literature Optometry 74 99 110 12585737 (Pubitemid 38146925)
-
(2003)
Optometry
, vol.74
, Issue.2
, pp. 99-110
-
-
Deblack, S.S.1
-
10
-
-
13944256898
-
The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lipid in northern Chinese subjects
-
DOI 10.1194/jlr.M400166-JLR200
-
X Duan W Zhu Y Li Z Zhang Y Zhao J Dao Y Xiao 2005 The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lipid in northern Chinese subjects J Lipid Res 46 252 257 15547298 10.1194/jlr.M400166-JLR200 1:CAS:528:DC%2BD2MXhvFGkurw%3D (Pubitemid 40271089)
-
(2005)
Journal of Lipid Research
, vol.46
, Issue.2
, pp. 252-257
-
-
Duan, X.1
Zhu, W.2
Li, Y.3
Zhang, Z.4
Zhao, Y.5
Dao, J.6
Xiao, Y.7
-
11
-
-
67349095719
-
Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region
-
19254706 10.1016/j.clinbiochem.2009.02.013 1:CAS:528:DC%2BD1MXmtVShsr0%3D
-
MC Faniello M Di Sanzo B Quaresima A Nistico A Fregola M Grosso G Cuda F Costanzo 2009 Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region Clin Biochem 42 911 914 19254706 10.1016/j.clinbiochem.2009.02.013 1:CAS:528:DC%2BD1MXmtVShsr0%3D
-
(2009)
Clin Biochem
, vol.42
, pp. 911-914
-
-
Faniello, M.C.1
Di Sanzo, M.2
Quaresima, B.3
Nistico, A.4
Fregola, A.5
Grosso, M.6
Cuda, G.7
Costanzo, F.8
-
12
-
-
66349097798
-
The outer frontier: The importance of lipid metabolism in the skin
-
18980941 10.1194/jlr.R800039-JLR200
-
KR Feingold 2009 The outer frontier: the importance of lipid metabolism in the skin J Lipid Res 50 Suppl S417 S422 18980941 10.1194/jlr.R800039-JLR200
-
(2009)
J Lipid Res
, vol.50
, Issue.SUPPL.
-
-
Feingold, K.R.1
-
13
-
-
29244485881
-
The impact of Vision 2020 on global blindness
-
DOI 10.1038/sj.eye.6701973, PII 6701973
-
A Foster S Resnikoff 2005 The impact of Vision 2020 on global blindness Eye (Lond) 19 1133 1135 10.1038/sj.eye.6701973 1:STN:280:DC%2BD2Mnit1elsg%3D%3D (Pubitemid 41823774)
-
(2005)
Eye
, vol.19
, Issue.10
, pp. 1133-1135
-
-
Foster, A.1
Resnikoff, S.2
-
14
-
-
1342347707
-
Genetics of childhood cataract
-
DOI 10.1097/00055735-200402000-00003
-
PJ Francis AT Moore 2004 Genetics of childhood cataract Curr Opin Ophthalmol 15 10 15 14743013 10.1097/00055735-200402000-00003 (Pubitemid 38265184)
-
(2004)
Current Opinion in Ophthalmology
, vol.15
, Issue.1
, pp. 10-15
-
-
Francis, P.J.1
Moore, A.T.2
-
15
-
-
0033920543
-
A sensitive and convenient method for lipoprotein profile analysis of individual mouse plasma samples
-
DW Garber KR Kulkarni GM Anantharamaiah 2000 A sensitive and convenient method for lipoprotein profile analysis of individual mouse plasma samples J Lipid Res 41 1020 1026 10828095 1:CAS:528:DC%2BD3cXkt1aktbY%3D (Pubitemid 30434334)
-
(2000)
Journal of Lipid Research
, vol.41
, Issue.6
, pp. 1020-1026
-
-
Garber, D.W.1
Kulkarni, K.R.2
Anantharamaiah, G.M.3
-
16
-
-
30344473341
-
Protein sensors for membrane sterols
-
DOI 10.1016/j.cell.2005.12.022, PII S0092867405014637
-
JL Goldstein RA DeBose-Boyd MS Brown 2006 Protein sensors for membrane sterols Cell 124 35 46 16413480 10.1016/j.cell.2005.12.022 1:CAS:528: DC%2BD28XntVGlug%3D%3D (Pubitemid 43069308)
-
(2006)
Cell
, vol.124
, Issue.1
, pp. 35-36
-
-
Goldstein, J.L.1
DeBose-Boyd, R.A.2
Brown, M.S.3
-
17
-
-
0037092596
-
Anterior segment dysgenesis and the developmental glaucomas are complex traits
-
DB Gould SW John 2002 Anterior segment dysgenesis and the developmental glaucomas are complex traits Hum Mol Genet 11 1185 1193 12015278 10.1093/hmg/11.10.1185 1:CAS:528:DC%2BD38XktFyku7o%3D (Pubitemid 34567499)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.10
, pp. 1185-1193
-
-
Gould, D.B.1
John, S.W.M.2
-
18
-
-
11144298645
-
Congenital hereditary cataracts
-
DOI 10.1387/ijdb.041854jg
-
J Graw 2004 Congenital hereditary cataracts Int J Dev Biol 48 1031 1044 15558493 10.1387/ijdb.041854jg 1:CAS:528:DC%2BD2MXivFegtrk%3D (Pubitemid 40039190)
-
(2004)
International Journal of Developmental Biology
, vol.48
, Issue.8-9
, pp. 1031-1044
-
-
Graw, J.1
-
19
-
-
0034659685
-
Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins
-
DOI 10.1056/NEJM200006153422404
-
CJ Hammond H Snieder TD Spector CE Gilbert 2000 Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins N Engl J Med 342 1786 1790 10853001 10.1056/NEJM200006153422404 1:STN:280:DC%2BD3c3psVOqsA%3D%3D (Pubitemid 30390238)
-
(2000)
New England Journal of Medicine
, vol.342
, Issue.24
, pp. 1786-1790
-
-
Hammond, C.J.1
Snieder, H.2
Spector, T.D.3
Gilbert, C.E.4
-
20
-
-
0035092408
-
The heritability of age-related cortical cataract: The twin eye study
-
CJ Hammond DD Duncan H Snieder M de Lange SK West TD Spector CE Gilbert 2001 The heritability of age-related cortical cataract: the twin eye study Invest Ophthalmol Vis Sci 42 601 605 11222516 1:STN:280:DC%2BD3M7lt1eqsg%3D%3D (Pubitemid 32206897)
-
(2001)
Investigative Ophthalmology and Visual Science
, vol.42
, Issue.3
, pp. 601-605
-
-
Hammond, C.J.1
Duncan, D.D.2
Snieder, H.3
De Lange, M.4
West, S.K.5
Spector, T.D.6
Gilbert, C.E.7
-
22
-
-
77956635945
-
The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17
-
20194968 10.1534/genetics.109.113167 1:CAS:528:DC%2BC3cXhsFOnurfF
-
EL Hassemer SM Le Gall R Liegel M McNally B Chang CJ Zeiss RD Dubielzig K Horiuchi T Kimura Y Okada CP Blobel DJ Sidjanin 2010 The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17 Genetics 185 245 255 20194968 10.1534/genetics.109.113167 1:CAS:528:DC%2BC3cXhsFOnurfF
-
(2010)
Genetics
, vol.185
, pp. 245-255
-
-
Hassemer, E.L.1
Le Gall, S.M.2
Liegel, R.3
McNally, M.4
Chang, B.5
Zeiss, C.J.6
Dubielzig, R.D.7
Horiuchi, K.8
Kimura, T.9
Okada, Y.10
Blobel, C.P.11
Sidjanin, D.J.12
-
23
-
-
39149086399
-
Congenital cataracts and their molecular genetics
-
DOI 10.1016/j.semcdb.2007.10.003, PII S1084952107001619
-
JF Hejtmancik 2008 Congenital cataracts and their molecular genetics Semin Cell Dev Biol 19 134 149 18035564 10.1016/j.semcdb.2007.10.003 1:CAS:528:DC%2BD1cXitlGrsr8%3D (Pubitemid 351258371)
-
(2008)
Seminars in Cell and Developmental Biology
, vol.19
, Issue.2
, pp. 134-149
-
-
Hejtmancik, J.F.1
-
24
-
-
2942532502
-
Molecular genetics of age-related cataract
-
DOI 10.1016/j.exer.2004.03.014, PII S0014483504000880
-
JF Hejtmancik M Kantorow 2004 Molecular genetics of age-related cataract Exp Eye Res 79 3 9 15183095 10.1016/j.exer.2004.03.014 1:CAS:528: DC%2BD2cXkslWmurY%3D (Pubitemid 38737377)
-
(2004)
Experimental Eye Research
, vol.79
, Issue.1
, pp. 3-9
-
-
Hejtmancik, J.F.1
Kantorow, M.2
-
25
-
-
0037387601
-
Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes
-
12668600 10.1093/hmg/ddg072 1:CAS:528:DC%2BD3sXjs1Olur8%3D
-
GE Herman 2003 Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes Hum Mol Genet 12 Spec No 1 R75 R88 12668600 10.1093/hmg/ddg072 1:CAS:528:DC%2BD3sXjs1Olur8%3D
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SPEC NO 1
-
-
Herman, G.E.1
-
26
-
-
0029555228
-
Risk factors for age-related cataracts
-
WG Hodge JP Whitcher W Satariano 1995 Risk factors for age-related cataracts Epidemiol Rev 17 336 346 8654515 1:STN:280:DyaK283mtFehsQ%3D%3D (Pubitemid 26096878)
-
(1995)
Epidemiologic Reviews
, vol.17
, Issue.2
, pp. 336-346
-
-
Hodge, W.G.1
Whitcher, J.P.2
Satariano, W.3
-
27
-
-
0036251153
-
SREBPs: Activators of the complete program of cholesterol and fatty acid synthesis in the liver
-
DOI 10.1172/JCI200215593
-
JD Horton JL Goldstein MS Brown 2002 SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver J Clin Invest 109 1125 1131 11994399 1:CAS:528:DC%2BD38XjsFals7c%3D (Pubitemid 34496588)
-
(2002)
Journal of Clinical Investigation
, vol.109
, Issue.9
, pp. 1125-1131
-
-
Horton, J.D.1
Goldstein, J.L.2
Brown, M.S.3
-
28
-
-
38549141572
-
Cellular cholesterol trafficking and compartmentalization
-
DOI 10.1038/nrm2336, PII NRM2336
-
E Ikonen 2008 Cellular cholesterol trafficking and compartmentalization Nat Rev Mol Cell Biol 9 125 138 18216769 10.1038/nrm2336 1:CAS:528: DC%2BD1cXovFOguw%3D%3D (Pubitemid 351158918)
-
(2008)
Nature Reviews Molecular Cell Biology
, vol.9
, Issue.2
, pp. 125-138
-
-
Ikonen, E.1
-
29
-
-
68249120153
-
EPHA2 is associated with age-related cortical cataract in mice and humans
-
19649315 10.1371/journal.pgen.1000584
-
G Jun H Guo BE Klein R Klein JJ Wang P Mitchell H Miao KE Lee T Joshi M Buck P Chugha D Bardenstein AP Klein JE Bailey-Wilson X Gong TD Spector T Andrew CJ Hammond RC Elston SK Iyengar B Wang 2009 EPHA2 is associated with age-related cortical cataract in mice and humans PLoS Genet 5 e1000584 19649315 10.1371/journal.pgen.1000584
-
(2009)
PLoS Genet
, vol.5
, pp. 1000584
-
-
Jun, G.1
Guo, H.2
Klein, B.E.3
Klein, R.4
Wang, J.J.5
Mitchell, P.6
Miao, H.7
Lee, K.E.8
Joshi, T.9
Buck, M.10
Chugha, P.11
Bardenstein, D.12
Klein, A.P.13
Bailey-Wilson, J.E.14
Gong, X.15
Spector, T.D.16
Andrew, T.17
Hammond, C.J.18
Elston, R.C.19
Iyengar, S.K.20
Wang, B.21
more..
-
30
-
-
0347519164
-
Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
-
DOI 10.1023/B:BOLI.0000005660.88944.2f
-
N Karas L Gobec V Pfeifer B Mlinar T Battelino J Lukac-Bajalo 2003 Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract J Inherit Metab Dis 26 699 704 14707519 10.1023/B:BOLI.0000005660.88944.2f 1:CAS:528:DC%2BD3sXptlGksL8%3D (Pubitemid 38008974)
-
(2003)
Journal of Inherited Metabolic Disease
, vol.26
, Issue.7
, pp. 699-704
-
-
Karas, N.1
Gobec, L.2
Pfeifer, V.3
Mlinar, B.4
Battelino, T.5
Lukac-Bajalo, J.6
-
31
-
-
0035778887
-
Inborn errors of sterol biosynthesis
-
DOI 10.1146/annurev.genom.2.1.299
-
RI Kelley GE Herman 2001 Inborn errors of sterol biosynthesis Annu Rev Genomics Hum Genet 2 299 341 11701653 10.1146/annurev.genom.2.1.299 1:CAS:528:DC%2BD3MXos1anur8%3D (Pubitemid 35265010)
-
(2001)
Annual Review of Genomics and Human Genetics
, vol.2
, pp. 299-341
-
-
Kelley, R.I.1
Herman, G.E.2
-
32
-
-
0021798840
-
Membrane cholesterol and phospholipid in consecutive concentric sections of human lenses
-
LK Li L So A Spector 1985 Membrane cholesterol and phospholipid in consecutive concentric sections of human lenses J Lipid Res 26 600 609 4020298 1:CAS:528:DyaL2MXktlGhsb0%3D (Pubitemid 15073732)
-
(1985)
Journal of Lipid Research
, vol.26
, Issue.5
, pp. 600-609
-
-
Li, L.-K.1
So, L.2
Spector, A.3
-
33
-
-
79951578950
-
Association between gap junction protein-alpha 8 polymorphisms and age-related cataract
-
20582632 10.1007/s11033-010-0230-z 1:CAS:528:DC%2BC3MXovValsw%3D%3D
-
Y Liu M Ke M Yan S Guo ME Mothobi Q Chen F Zheng 2011 Association between gap junction protein-alpha 8 polymorphisms and age-related cataract Mol Biol Rep 38 1301 1307 20582632 10.1007/s11033-010-0230-z 1:CAS:528: DC%2BC3MXovValsw%3D%3D
-
(2011)
Mol Biol Rep
, vol.38
, pp. 1301-1307
-
-
Liu, Y.1
Ke, M.2
Yan, M.3
Guo, S.4
Mothobi, M.E.5
Chen, Q.6
Zheng, F.7
-
34
-
-
0031568872
-
Structure of the human gene encoding sterol regulatory element binding protein 2 (SREBF2)
-
DOI 10.1006/geno.1996.4525
-
AR Miserez G Cao LC Probst HH Hobbs 1997 Structure of the human gene encoding sterol regulatory element binding protein 2 (SREBF2) Genomics 40 31 40 9070916 10.1006/geno.1996.4525 1:CAS:528:DyaK2sXhtlShurk%3D (Pubitemid 27108244)
-
(1997)
Genomics
, vol.40
, Issue.1
, pp. 31-40
-
-
Miserez, A.R.1
Cao, G.2
Probst, L.C.3
Hobbs, H.H.4
-
35
-
-
0035996575
-
Sterol-regulatory element-binding protein (SREBP)-2 contributes to polygenic hypercholesterolaemia
-
DOI 10.1016/S0021-9150(01)00762-6, PII S0021915001007626
-
AR Miserez PY Muller L Barella S Barella HB Staehelin E Leitersdorf JD Kark Y Friedlander 2002 Sterol-regulatory element-binding protein (SREBP)-2 contributes to polygenic hypercholesterolaemia Atherosclerosis 164 15 26 12119189 10.1016/S0021-9150(01)00762-6 1:CAS:528:DC%2BD38Xlt12ltr8%3D (Pubitemid 34765633)
-
(2002)
Atherosclerosis
, vol.164
, Issue.1
, pp. 15-26
-
-
Miserez, A.R.1
Muller, P.Y.2
Barella, L.3
Barella, S.4
Staehelin, H.B.5
Leitersdorf, E.6
Kark, J.D.7
Friedlander, Y.8
-
36
-
-
32444440111
-
Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat
-
DOI 10.1172/JCI20797
-
M Mori G Li I Abe J Nakayama Z Guo J Sawashita T Ugawa S Nishizono T Serikawa K Higuchi S Shumiya 2006 Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat J Clin Invest 116 395 404 16440058 10.1172/JCI20797 1:CAS:528:DC%2BD28Xht1Sqsrk%3D (Pubitemid 43228356)
-
(2006)
Journal of Clinical Investigation
, vol.116
, Issue.2
, pp. 395-404
-
-
Mori, M.1
Li, G.2
Abe, I.3
Nakayama, J.4
Guo, Z.5
Sawashita, J.6
Ugawa, T.7
Nishizono, S.8
Serikawa, T.9
Higuchi, K.10
Shumiya, S.11
-
37
-
-
0036251719
-
Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects
-
PY Muller AR Miserez 2002 Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects J Med Genet 39 271 275 11950857 10.1136/jmg.39.4.271 1:CAS:528:DC%2BD38XjvFektLk%3D (Pubitemid 34496804)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.4
, pp. 271-275
-
-
Muller, P.Y.1
Miserez, A.R.2
-
38
-
-
0034793082
-
Genetic disorders of cholesterol biosynthesis in mice and humans
-
DOI 10.1006/mgme.2001.3226
-
NA Nwokoro CA Wassif FD Porter 2001 Genetic disorders of cholesterol biosynthesis in mice and humans Mol Genet Metab 74 105 119 11592808 10.1006/mgme.2001.3226 1:CAS:528:DC%2BD3MXntlOkt74%3D (Pubitemid 32955152)
-
(2001)
Molecular Genetics and Metabolism
, vol.74
, Issue.1-2
, pp. 105-119
-
-
Nwokoro, N.A.1
Wassif, C.A.2
Porter, F.D.3
-
39
-
-
0035071070
-
A genetic factor for age-related cataract: Identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians
-
DOI 10.1086/319512
-
Y Okano M Asada A Fujimoto A Ohtake K Murayama KJ Hsiao K Choeh Y Yang Q Cao JK Reichardt S Niihira T Imamura T Yamano 2001 A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka", in Asians Am J Hum Genet 68 1036 1042 11231902 10.1086/319512 1:CAS:528:DC%2BD3MXkvFarsLw%3D (Pubitemid 32289747)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.4
, pp. 1036-1042
-
-
Okano, Y.1
Asada, M.2
Fujimoto, A.3
Ohtake, A.4
Murayama, K.5
Hsiao, K.-J.6
Choeh, K.7
Yang, Y.8
Cao, Q.9
Reichardt, J.K.V.10
Niihira, S.11
Imamura, T.12
Yamano, T.13
-
41
-
-
39849083646
-
SREBPs: The crossroads of physiological and pathological lipid homeostasis
-
DOI 10.1016/j.tem.2007.10.009, PII S1043276008000040
-
R Raghow C Yellaturu X Deng EA Park MB Elam 2008 SREBPs: the crossroads of physiological and pathological lipid homeostasis Trends Endocrinol Metab 19 65 73 18291668 10.1016/j.tem.2007.10.009 1:CAS:528:DC%2BD1cXjtVCjsrY%3D (Pubitemid 351317897)
-
(2008)
Trends in Endocrinology and Metabolism
, vol.19
, Issue.2
, pp. 65-73
-
-
Raghow, R.1
Yellaturu, C.2
Deng, X.3
Park, E.A.4
Elam, M.B.5
-
42
-
-
0043172415
-
The SREBP pathway - Insights from insigs and insects
-
DOI 10.1038/nrm1174
-
RB Rawson 2003 The SREBP pathway-insights from Insigs and insects Nat Rev Mol Cell Biol 4 631 640 12923525 10.1038/nrm1174 1:CAS:528:DC%2BD3sXmsVSis7c%3D (Pubitemid 36934965)
-
(2003)
Nature Reviews Molecular Cell Biology
, vol.4
, Issue.8
, pp. 631-640
-
-
Rawson, R.B.1
-
43
-
-
9644283089
-
Global data on visual impairment in the year 2002
-
S Resnikoff D Pascolini D Etya'ale I Kocur R Pararajasegaram GP Pokharel SP Mariotti 2004 Global data on visual impairment in the year 2002 Bull World Health Organ 82 844 851 15640920 (Pubitemid 39573742)
-
(2004)
Bulletin of the World Health Organization
, vol.82
, Issue.11
, pp. 844-851
-
-
Resnikoff, S.1
Pascolini, D.2
Etya'ale, D.3
Kocur, I.4
Pararajasegaram, R.5
Pokharel, G.P.6
Mariotti, S.P.7
-
44
-
-
33750728031
-
Determination of cholesterol in human hair using gas chromatography-mass spectrometry
-
DOI 10.1002/bmc.615
-
HK Ryu BH Jung KM Kim EA Yoo JT Woo BC Chung 2006 Determination of cholesterol in human hair using gas chromatography-mass spectrometry Biomed Chromatogr 20 999 1003 16544269 10.1002/bmc.615 1:CAS:528:DC%2BD28Xht1eisrfO (Pubitemid 44697035)
-
(2006)
Biomedical Chromatography
, vol.20
, Issue.10
, pp. 999-1003
-
-
Ryu, H.K.1
Jung, B.H.2
Kim, K.M.3
Yoo, E.A.4
Woo, J.-T.5
Chung, B.C.6
-
45
-
-
55349108925
-
Mutation screening of HSF4 in 150 age-related cataract patients
-
18941546 1:CAS:528:DC%2BD1cXhsVaqu7zO
-
Y Shi X Shi Y Jin A Miao L Bu J He H Jiang Y Lu X Kong L Hu 2008 Mutation screening of HSF4 in 150 age-related cataract patients Mol Vis 14 1850 1855 18941546 1:CAS:528:DC%2BD1cXhsVaqu7zO
-
(2008)
Mol Vis
, vol.14
, pp. 1850-1855
-
-
Shi, Y.1
Shi, X.2
Jin, Y.3
Miao, A.4
Bu, L.5
He, J.6
Jiang, H.7
Lu, Y.8
Kong, X.9
Hu, L.10
-
46
-
-
33846944686
-
Genetic origins of cataract
-
17296892 10.1001/archopht.125.2.165 1:CAS:528:DC%2BD2sXisF2quro%3D
-
A Shiels JF Hejtmancik 2007 Genetic origins of cataract Arch Ophthalmol 125 165 173 17296892 10.1001/archopht.125.2.165 1:CAS:528:DC%2BD2sXisF2quro%3D
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 165-173
-
-
Shiels, A.1
Hejtmancik, J.F.2
-
48
-
-
78149488289
-
Cat-Map: Putting cataract on the map
-
21042563 1:CAS:528:DC%2BC3cXhtlWkurvM
-
A Shiels TM Bennett JF Hejtmancik 2010 Cat-Map: putting cataract on the map Mol Vis 16 2007 2015 21042563 1:CAS:528:DC%2BC3cXhtlWkurvM
-
(2010)
Mol Vis
, vol.16
, pp. 2007-2015
-
-
Shiels, A.1
Bennett, T.M.2
Hejtmancik, J.F.3
-
49
-
-
0037260993
-
BayGenomics: A resource of insertional mutations in mouse embryonic stem cells
-
DOI 10.1093/nar/gkg064
-
D Stryke M Kawamoto CC Huang SJ Johns LA King CA Harper EC Meng RE Lee A Yee L L'Italien PT Chuang SG Young WC Skarnes PC Babbitt TE Ferrin 2003 BayGenomics: a resource of insertional mutations in mouse embryonic stem cells Nucleic Acids Res 31 278 281 12520002 10.1093/nar/gkg064 1:CAS:528: DC%2BD3sXhvFSms7k%3D (Pubitemid 36157282)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.1
, pp. 278-281
-
-
Stryke, D.1
Kawamoto, M.2
Huang, C.C.3
Johns, S.J.4
King, L.A.5
Harper, C.A.6
Meng, E.C.7
Lee, R.E.8
Yee, A.9
L'Italien, L.10
Chuang, P.-T.11
Young, S.G.12
Skarnes, W.C.13
Babbit, P.C.14
Ferrin, T.E.15
-
50
-
-
34249861927
-
Sterol-regulated transport of SREBPs from endoplasmic reticulum to Golgi: Insig renders sorting signal in Scap inaccessible to COPII proteins
-
DOI 10.1073/pnas.0700907104
-
LP Sun J Seemann JL Goldstein MS Brown 2007 Sterol-regulated transport of SREBPs from endoplasmic reticulum to Golgi: Insig renders sorting signal in Scap inaccessible to COPII proteins Proc Natl Acad Sci USA 104 6519 6526 17428919 10.1073/pnas.0700907104 1:CAS:528:DC%2BD2sXkvFSqurs%3D (Pubitemid 47175534)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.16
, pp. 6519-6526
-
-
Sun, L.-P.1
Seemann, J.2
Goldstein, J.L.3
Brown, M.S.4
-
51
-
-
33744911966
-
Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice
-
DOI 10.1016/j.ygeno.2006.02.012, PII S088875430600053X
-
E Talamas L Jackson M Koeberl T Jackson JL McElwee NL Hawes B Chang MM Jablonski DJ Sidjanin 2006 Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice Genomics 88 44 51 16595169 10.1016/j.ygeno.2006.02.012 1:CAS:528: DC%2BD28XlsFCms78%3D (Pubitemid 43851176)
-
(2006)
Genomics
, vol.88
, Issue.1
, pp. 44-51
-
-
Talamas, E.1
Jackson, L.2
Koeberl, M.3
Jackson, T.4
McElwee, J.L.5
Hawes, N.L.6
Chang, B.7
Jablonski, M.M.8
Sidjanin, D.J.9
-
52
-
-
0032794653
-
Epidemiology of age-related cataract
-
HR Taylor 1999 Epidemiology of age-related cataract Eye 13 Pt 3b 445 448 10627822 10.1038/eye.1999.119 (Pubitemid 29341245)
-
(1999)
Eye
, vol.13
, Issue.B3
, pp. 445-448
-
-
Taylor, H.R.1
-
53
-
-
3042809348
-
Nuclear cataract (nuc)
-
DS Varnum 1981 Nuclear cataract (nuc) Mouse News Lett 64 59
-
(1981)
Mouse News Lett
, vol.64
, pp. 59
-
-
Varnum, D.S.1
-
54
-
-
0028872768
-
Epidemiology of risk factors for age-related cataract
-
7725232 10.1016/S0039-6257(05)80110-9 1:STN:280:DyaK2M3kt1agsw%3D%3D
-
SK West CT Valmadrid 1995 Epidemiology of risk factors for age-related cataract Surv Ophthalmol 39 323 334 7725232 10.1016/S0039-6257(05)80110-9 1:STN:280:DyaK2M3kt1agsw%3D%3D
-
(1995)
Surv Ophthalmol
, vol.39
, pp. 323-334
-
-
West, S.K.1
Valmadrid, C.T.2
-
55
-
-
0028133279
-
Sterol-resistant transcription in CHO cells caused by gene rearrangement that truncates SREBP-2
-
J Yang R Sato JL Goldstein MS Brown 1994 Sterol-resistant transcription in CHO cells caused by gene rearrangement that truncates SREBP-2 Genes Dev 8 1910 1919 7958866 10.1101/gad.8.16.1910 1:CAS:528:DyaK2cXmvFCisrc%3D (Pubitemid 24273891)
-
(1994)
Genes and Development
, vol.8
, Issue.16
, pp. 1910-1919
-
-
Yang, J.1
Sato, R.2
Goldstein, J.L.3
Brown, M.S.4
-
56
-
-
77955888546
-
Alterations of the 5′ untranslated region of SLC16A12 lead to age-related cataract
-
20181839 10.1167/iovs.10-5193
-
J Zuercher J Neidhardt I Magyar S Labs AT Moore FC Tanner N Waseem DF Schorderet FL Munier S Bhattacharya W Berger B Kloeckener-Gruissem 2010 Alterations of the 5′ untranslated region of SLC16A12 lead to age-related cataract Invest Ophthalmol Vis Sci 51 3354 3361 20181839 10.1167/iovs.10-5193
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 3354-3361
-
-
Zuercher, J.1
Neidhardt, J.2
Magyar, I.3
Labs, S.4
Moore, A.T.5
Tanner, F.C.6
Waseem, N.7
Schorderet, D.F.8
Munier, F.L.9
Bhattacharya, S.10
Berger, W.11
Kloeckener-Gruissem, B.12
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