-
1
-
-
62349090894
-
Primary open-angle glaucoma
-
Kwon YH, Fingert JH, Kuehn MH, Alward WL, (2009) Primary open-angle glaucoma. N Engl J Med 360: 1113-1124.
-
(2009)
N Engl J Med
, vol.360
, pp. 1113-1124
-
-
Kwon, Y.H.1
Fingert, J.H.2
Kuehn, M.H.3
Alward, W.L.4
-
2
-
-
31044448209
-
What controls aqueous humour outflow resistance?'
-
Johnson M, (2006) 'What controls aqueous humour outflow resistance?'. Exp Eye Res 82: 545-557.
-
(2006)
Exp Eye Res
, vol.82
, pp. 545-557
-
-
Johnson, M.1
-
3
-
-
41049089213
-
Extracellular matrix in the trabecular meshwork
-
Acott TS, Kelley MJ, (2008) Extracellular matrix in the trabecular meshwork. Exp Eye Res 86: 543-561.
-
(2008)
Exp Eye Res
, vol.86
, pp. 543-561
-
-
Acott, T.S.1
Kelley, M.J.2
-
4
-
-
64249096137
-
The genetics of primary open-angle glaucoma: a review
-
Allingham RR, Liu Y, Rhee DJ, (2009) The genetics of primary open-angle glaucoma: a review. Exp Eye Res 88: 837-844.
-
(2009)
Exp Eye Res
, vol.88
, pp. 837-844
-
-
Allingham, R.R.1
Liu, Y.2
Rhee, D.J.3
-
5
-
-
0017624691
-
Clinical manifestations of inherited glaucoma in the beagle
-
Gelatt KN, Peiffer RL Jr, Gwin RM, Gum GG, Williams LW, (1977) Clinical manifestations of inherited glaucoma in the beagle. Invest Ophthalmol Vis Sci 16: 1135-1142.
-
(1977)
Invest Ophthalmol Vis Sci
, vol.16
, pp. 1135-1142
-
-
Gelatt, K.N.1
Peiffer Jr., R.L.2
Gwin, R.M.3
Gum, G.G.4
Williams, L.W.5
-
6
-
-
0019083114
-
Aqueous humor outflow in beagles with inherited glaucoma: constant pressure perfusion
-
Peiffer RL Jr, Gum GG, Grimson RC, Gelatt KN, (1980) Aqueous humor outflow in beagles with inherited glaucoma: constant pressure perfusion. Am J Vet Res 41: 1808-1813.
-
(1980)
Am J Vet Res
, vol.41
, pp. 1808-1813
-
-
Peiffer Jr., R.L.1
Gum, G.G.2
Grimson, R.C.3
Gelatt, K.N.4
-
7
-
-
0028950830
-
Histomorphometry of the optic nerves of normal dogs and dogs with hereditary glaucoma
-
Brooks DE, Strubbe DT, Kubilis PS, MacKay EO, Samuelson DA, et al. (1995) Histomorphometry of the optic nerves of normal dogs and dogs with hereditary glaucoma. Exp Eye Res 60: 71-89.
-
(1995)
Exp Eye Res
, vol.60
, pp. 71-89
-
-
Brooks, D.E.1
Strubbe, D.T.2
Kubilis, P.S.3
MacKay, E.O.4
Samuelson, D.A.5
-
8
-
-
0019631088
-
Inheritance of primary glaucoma in the beagle
-
Gelatt KN, Gum GG, (1981) Inheritance of primary glaucoma in the beagle. Am J Vet Res 42: 1691-1693.
-
(1981)
Am J Vet Res
, vol.42
, pp. 1691-1693
-
-
Gelatt, K.N.1
Gum, G.G.2
-
9
-
-
28644447707
-
Genome sequence, comparative analysis and haplotype structure of the domestic dog
-
Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, et al. (2005) Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438: 803-819.
-
(2005)
Nature
, vol.438
, pp. 803-819
-
-
Lindblad-Toh, K.1
Wade, C.M.2
Mikkelsen, T.S.3
Karlsson, E.K.4
Jaffe, D.B.5
-
10
-
-
35648953308
-
Efficient mapping of mendelian traits in dogs through genome-wide association
-
Karlsson EK, Baranowska I, Wade CM, Salmon Hillbertz NH, Zody MC, et al. (2007) Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet 39: 1321-1328.
-
(2007)
Nat Genet
, vol.39
, pp. 1321-1328
-
-
Karlsson, E.K.1
Baranowska, I.2
Wade, C.M.3
Salmon Hillbertz, N.H.4
Zody, M.C.5
-
11
-
-
69249097407
-
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs
-
Parker HG, VonHoldt BM, Quignon P, Margulies EH, Shao S, et al. (2009) An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 325: 995-998.
-
(2009)
Science
, vol.325
, pp. 995-998
-
-
Parker, H.G.1
von Holdt, B.M.2
Quignon, P.3
Margulies, E.H.4
Shao, S.5
-
12
-
-
51749095299
-
A mutation in hairless dogs implicates FOXI3 in ectodermal development
-
Drogemuller C, Karlsson EK, Hytonen MK, Perloski M, Dolf G, et al. (2008) A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science 321: 1462.
-
(2008)
Science
, vol.321
, pp. 1462
-
-
Drogemuller, C.1
Karlsson, E.K.2
Hytonen, M.K.3
Perloski, M.4
Dolf, G.5
-
13
-
-
33846113272
-
Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study
-
Duggal P, Klein AP, Lee KE, Klein R, Klein BE, et al. (2007) Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study. Arch Ophthalmol 125: 74-79.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 74-79
-
-
Duggal, P.1
Klein, A.P.2
Lee, K.E.3
Klein, R.4
Klein, B.E.5
-
14
-
-
14244250200
-
The ADAMTS metalloproteinases
-
Porter S, Clark IM, Kevorkian L, Edwards DR, (2005) The ADAMTS metalloproteinases. Biochem J 386: 15-27.
-
(2005)
Biochem J
, vol.386
, pp. 15-27
-
-
Porter, S.1
Clark, I.M.2
Kevorkian, L.3
Edwards, D.R.4
-
15
-
-
10944243756
-
Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation
-
Somerville RP, Jungers KA, Apte SS, (2004) Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation. J Biol Chem 279: 51208-51217.
-
(2004)
J Biol Chem
, vol.279
, pp. 51208-51217
-
-
Somerville, R.P.1
Jungers, K.A.2
Apte, S.S.3
-
16
-
-
70450253102
-
A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms
-
Apte SS, (2009) A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. J Biol Chem 284: 31493-31497.
-
(2009)
J Biol Chem
, vol.284
, pp. 31493-31497
-
-
Apte, S.S.1
-
17
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC, (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
18
-
-
33645764714
-
SNPs3D: candidate gene and SNP selection for association studies
-
Yue P, Melamud E, Moult J, (2006) SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 7: 166.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 166
-
-
Yue, P.1
Melamud, E.2
Moult, J.3
-
19
-
-
0037049544
-
The cysteine-rich domain regulates ADAM protease function in vivo
-
Smith KM, Gaultier A, Cousin H, Alfandari D, White JM, et al. (2002) The cysteine-rich domain regulates ADAM protease function in vivo. J Cell Biol 159: 893-902.
-
(2002)
J Cell Biol
, vol.159
, pp. 893-902
-
-
Smith, K.M.1
Gaultier, A.2
Cousin, H.3
Alfandari, D.4
White, J.M.5
-
20
-
-
72949104661
-
Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor
-
Akiyama M, Takeda S, Kokame K, Takagi J, Miyata T, (2009) Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor. Proc Natl Acad Sci U S A 106: 19274-19279.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 19274-19279
-
-
Akiyama, M.1
Takeda, S.2
Kokame, K.3
Takagi, J.4
Miyata, T.5
-
21
-
-
0023852737
-
In vitro synthesis of the active tissue inhibitor of metalloproteinases encoded by a complementary DNA from virus-infected murine fibroblasts
-
Coulombe B, Skup D, (1988) In vitro synthesis of the active tissue inhibitor of metalloproteinases encoded by a complementary DNA from virus-infected murine fibroblasts. J Biol Chem 263: 1439-1443.
-
(1988)
J Biol Chem
, vol.263
, pp. 1439-1443
-
-
Coulombe, B.1
Skup, D.2
-
22
-
-
0346993672
-
A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia
-
Duan Z, Li FQ, Wechsler J, Meade-White K, Williams K, et al. (2004) A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. Mol Cell Biol 24: 58-70.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 58-70
-
-
Duan, Z.1
Li, F.Q.2
Wechsler, J.3
Meade-White, K.4
Williams, K.5
-
23
-
-
0034842533
-
Characterization of myocilin-myocilin interactions
-
Fautsch MP, Johnson DH, (2001) Characterization of myocilin-myocilin interactions. Invest Ophthalmol Vis Sci 42: 2324-2331.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 2324-2331
-
-
Fautsch, M.P.1
Johnson, D.H.2
-
24
-
-
77956824177
-
Multiple domains of ADAMTS13 are targeted by autoantibodies against ADAMTS13 in patients with acquired idiopathic thrombotic thrombocytopenic purpura
-
Zheng XL, Wu HM, Shang D, Falls E, Skipwith CG, et al. Multiple domains of ADAMTS13 are targeted by autoantibodies against ADAMTS13 in patients with acquired idiopathic thrombotic thrombocytopenic purpura. Haematologica 95: 1555-1562.
-
Haematologica
, vol.95
, pp. 1555-1562
-
-
Zheng, X.L.1
Wu, H.M.2
Shang, D.3
Falls, E.4
Skipwith, C.G.5
-
25
-
-
0142152440
-
ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage
-
Soejima K, Matsumoto M, Kokame K, Yagi H, Ishizashi H, et al. (2003) ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage. Blood 102: 3232-3237.
-
(2003)
Blood
, vol.102
, pp. 3232-3237
-
-
Soejima, K.1
Matsumoto, M.2
Kokame, K.3
Yagi, H.4
Ishizashi, H.5
-
26
-
-
64249132761
-
Extracellular matrix turnover and outflow resistance
-
Keller KE, Aga M, Bradley JM, Kelley MJ, Acott TS, (2009) Extracellular matrix turnover and outflow resistance. Exp Eye Res 88: 676-682.
-
(2009)
Exp Eye Res
, vol.88
, pp. 676-682
-
-
Keller, K.E.1
Aga, M.2
Bradley, J.M.3
Kelley, M.J.4
Acott, T.S.5
-
27
-
-
73349141409
-
Differential effects of ADAMTS-1, -4, and -5 in the trabecular meshwork
-
Keller KE, Bradley JM, Acott TS, (2009) Differential effects of ADAMTS-1,-4, and-5 in the trabecular meshwork. Invest Ophthalmol Vis Sci 50: 5769-5777.
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, pp. 5769-5777
-
-
Keller, K.E.1
Bradley, J.M.2
Acott, T.S.3
-
28
-
-
6344237724
-
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
-
Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, et al. (2004) ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 75: 801-806.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 801-806
-
-
Dagoneau, N.1
Benoist-Lasselin, C.2
Huber, C.3
Faivre, L.4
Megarbane, A.5
-
29
-
-
71849096809
-
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
-
Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, et al. (2009) Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet 85: 558-568.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 558-568
-
-
Morales, J.1
Al-Sharif, L.2
Khalil, D.S.3
Shinwari, J.M.4
Bavi, P.5
-
30
-
-
0037238770
-
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
-
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, et al. (2003) In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 40: 34-36.
-
(2003)
J Med Genet
, vol.40
, pp. 34-36
-
-
Faivre, L.1
Gorlin, R.J.2
Wirtz, M.K.3
Godfrey, M.4
Dagoneau, N.5
-
31
-
-
10744219755
-
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
-
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, et al. (2003) Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A 123A: 204-207.
-
(2003)
Am J Med Genet A
, vol.123 A
, pp. 204-207
-
-
Faivre, L.1
Dollfus, H.2
Lyonnet, S.3
Alembik, Y.4
Megarbane, A.5
-
32
-
-
72449194274
-
Biogenesis and function of fibrillin assemblies
-
Ramirez F, Sakai LY, (2009) Biogenesis and function of fibrillin assemblies. Cell Tissue Res 339: 71-82.
-
(2009)
Cell Tissue Res
, vol.339
, pp. 71-82
-
-
Ramirez, F.1
Sakai, L.Y.2
-
33
-
-
0027076025
-
Glaucoma in the Marfan syndrome
-
discussion 118-122
-
Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH, (1992) Glaucoma in the Marfan syndrome. Trans Am Ophthalmol Soc 90: 111-117; discussion 118-122.
-
(1992)
Trans Am Ophthalmol Soc
, vol.90
, pp. 111-117
-
-
Izquierdo, N.J.1
Traboulsi, E.I.2
Enger, C.3
Maumenee, I.H.4
-
34
-
-
37349016857
-
Pathophysiology of zonular diseases
-
Dureau P, (2008) Pathophysiology of zonular diseases. Curr Opin Ophthalmol 19: 27-30.
-
(2008)
Curr Opin Ophthalmol
, vol.19
, pp. 27-30
-
-
Dureau, P.1
-
35
-
-
62649175429
-
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis
-
Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, et al. (2009) A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet 84: 274-278.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 274-278
-
-
Ahram, D.1
Sato, T.S.2
Kohilan, A.3
Tayeh, M.4
Chen, S.5
-
36
-
-
64249161403
-
Structural changes of the trabecular meshwork in different kinds of glaucoma
-
Tektas OY, Lutjen-Drecoll E, (2009) Structural changes of the trabecular meshwork in different kinds of glaucoma. Exp Eye Res 88: 769-775.
-
(2009)
Exp Eye Res
, vol.88
, pp. 769-775
-
-
Tektas, O.Y.1
Lutjen-Drecoll, E.2
-
37
-
-
0024518518
-
Ultrastructural changes in the aqueous outflow apparatus of beagles with inherited glaucoma
-
Samuelson DA, Gum GG, Gelatt KN, (1989) Ultrastructural changes in the aqueous outflow apparatus of beagles with inherited glaucoma. Invest Ophthalmol Vis Sci 30: 550-561.
-
(1989)
Invest Ophthalmol Vis Sci
, vol.30
, pp. 550-561
-
-
Samuelson, D.A.1
Gum, G.G.2
Gelatt, K.N.3
-
38
-
-
0028592628
-
Aqueous humor in glaucomatous eyes contains an increased level of TGF-beta 2
-
Tripathi RC, Li J, Chan WF, Tripathi BJ, (1994) Aqueous humor in glaucomatous eyes contains an increased level of TGF-beta 2. Exp Eye Res 59: 723-727.
-
(1994)
Exp Eye Res
, vol.59
, pp. 723-727
-
-
Tripathi, R.C.1
Li, J.2
Chan, W.F.3
Tripathi, B.J.4
-
39
-
-
35848942149
-
What increases outflow resistance in primary open-angle glaucoma?
-
Tamm ER, Fuchshofer R, (2007) What increases outflow resistance in primary open-angle glaucoma? Surv Ophthalmol 52 (Suppl 2): S101-104.
-
(2007)
Surv Ophthalmol
, vol.52
, Issue.SUPPL. 2
-
-
Tamm, E.R.1
Fuchshofer, R.2
-
40
-
-
65149084930
-
Null mutations in LTBP2 cause primary congenital glaucoma
-
Ali M, McKibbin M, Booth A, Parry DA, Jain P, et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 84: 664-671.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
Parry, D.A.4
Jain, P.5
-
41
-
-
33646887766
-
Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers
-
Silberstein M, Tzemach A, Dovgolevsky N, Fishelson M, Schuster A, et al. (2006) Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet 78: 922-935.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 922-935
-
-
Silberstein, M.1
Tzemach, A.2
Dovgolevsky, N.3
Fishelson, M.4
Schuster, A.5
-
42
-
-
0034842930
-
GRR: graphical representation of relationship errors
-
Abecasis GR, Cherny SS, Cookson WO, Cardon LR, (2001) GRR: graphical representation of relationship errors. Bioinformatics 17: 742-743.
-
(2001)
Bioinformatics
, vol.17
, pp. 742-743
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
43
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
Albert TJ, Molla MN, Muzny DM, Nazareth L, Wheeler D, et al. (2007) Direct selection of human genomic loci by microarray hybridization. Nat Methods 4: 903-905.
-
(2007)
Nat Methods
, vol.4
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
Muzny, D.M.3
Nazareth, L.4
Wheeler, D.5
-
44
-
-
35748959649
-
Microarray-based genomic selection for high-throughput resequencing
-
Okou DT, Steinberg KM, Middle C, Cutler DJ, Albert TJ, et al. (2007) Microarray-based genomic selection for high-throughput resequencing. Nat Methods 4: 907-909.
-
(2007)
Nat Methods
, vol.4
, pp. 907-909
-
-
Okou, D.T.1
Steinberg, K.M.2
Middle, C.3
Cutler, D.J.4
Albert, T.J.5
-
45
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
Langmead B, Trapnell C, Pop M, Salzberg SL, (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 10: R25.
-
(2009)
Genome Biol
, vol.10
-
-
Langmead, B.1
Trapnell, C.2
Pop, M.3
Salzberg, S.L.4
-
46
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
-
47
-
-
77954065271
-
I-TASSER: a unified platform for automated protein structure and function prediction
-
Roy A, Kucukural A, Zhang Y, (2010) I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc 5: 725-738.
-
(2010)
Nat Protoc
, vol.5
, pp. 725-738
-
-
Roy, A.1
Kucukural, A.2
Zhang, Y.3
-
48
-
-
84889120137
-
Improved methods for building protein models in electron density maps and the location of errors in these models
-
Jones TA, Zou JY, Cowan SW, Kjeldgaard M, (1991) Improved methods for building protein models in electron density maps and the location of errors in these models. Acta Crystallogr A 47 (Pt 2): 110-119.
-
(1991)
Acta Crystallogr A
, vol.47
, Issue.Pt 2
, pp. 110-119
-
-
Jones, T.A.1
Zou, J.Y.2
Cowan, S.W.3
Kjeldgaard, M.4
-
49
-
-
0026244229
-
Molscript - a Program to Produce Both Detailed and Schematic Plots of Protein Structures
-
Kraulis PJ, (1991) Molscript- a Program to Produce Both Detailed and Schematic Plots of Protein Structures. Journal of Applied Crystallography 24: 946-950.
-
(1991)
Journal of Applied Crystallography
, vol.24
, pp. 946-950
-
-
Kraulis, P.J.1
-
50
-
-
0030815133
-
Raster3D: photorealistic molecular graphics
-
Merritt EA, Bacon DJ, (1997) Raster3D: photorealistic molecular graphics. Methods Enzymol 277: 505-524.
-
(1997)
Methods Enzymol
, vol.277
, pp. 505-524
-
-
Merritt, E.A.1
Bacon, D.J.2
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