-
1
-
-
35148864722
-
Molecular and developmental mechanisms of anterior segment dysgenesis
-
Sowden J. C. Molecular and developmental mechanisms of anterior segment dysgenesis. Eye (Lond) 21, 1310-1318, doi: 10.1038/sj.eye.6702852 (2007
-
(2007)
Eye (Lond
, vol.21
, pp. 1310-1318
-
-
Sowden, J.C.1
-
2
-
-
0037092596
-
Anterior segment dysgenesis and the developmental glaucomas are complex traits
-
Gould D. B., & John S. W. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet 11, 1185-1193 (2002
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1185-1193
-
-
Gould, D.B.1
John, S.W.2
-
3
-
-
84920418405
-
Whole exome sequence analysis of Peters anomaly
-
Weh E., et al. Whole exome sequence analysis of Peters anomaly. Hum Genet 133, 1497-1511, doi: 10.1007/s00439-014-1481-x (2014
-
(2014)
Hum Genet
, vol.133
, pp. 1497-1511
-
-
Weh, E.1
-
4
-
-
79960006207
-
Chromosome abnormalities and the genetics of congenital corneal opacification
-
Mataftsi A., Islam L., Kelberman D., Sowden J. C., & Nischal K. K. Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis 17, 1624-1640 (2011
-
(2011)
Mol Vis
, vol.17
, pp. 1624-1640
-
-
Mataftsi, A.1
Islam, L.2
Kelberman, D.3
Sowden, J.C.4
Nischal, K.K.5
-
5
-
-
80051790236
-
Genetics of anterior segment dysgenesis disorders
-
Reis L. M., & Semina E. V. Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol 22, 314-324, doi: 10.1097/ICU.0b013e328349412b (2011
-
(2011)
Curr Opin Ophthalmol
, vol.22
, pp. 314-324
-
-
Reis, L.M.1
Semina, E.V.2
-
6
-
-
84892558808
-
Genomics and anterior segment dysgenesis: A review
-
Ito Y. A., & Walter M. A. Genomics and anterior segment dysgenesis: a review. Clin Experiment Ophthalmol 42, 13-24, doi: 10.1111/ceo.12152 (2014
-
(2014)
Clin Experiment Ophthalmol
, vol.42
, pp. 13-24
-
-
Ito, Y.A.1
Walter, M.A.2
-
7
-
-
0036237994
-
Foxe3 haploinsufficiency in mice: A model for Peters? Anomaly
-
Ormestad M., et al. Foxe3 haploinsufficiency in mice: a model for Peters? anomaly. Invest Ophthalmol Vis Sci 43, 1350-1357 (2002
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1350-1357
-
-
Ormestad, M.1
-
8
-
-
0035859899
-
Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye
-
Collinson J. M., et al. Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. Proc Natl Acad Sci USA 98, 9688-9693, doi: 10.1073/pnas.161144098 (2001
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 9688-9693
-
-
Collinson, J.M.1
-
9
-
-
0033566179
-
The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye
-
Kidson S. H., Kume T., Deng K., Winfrey V., & Hogan B. L. The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye. Developmental biology 211, 306-322, doi: 10.1006/dbio.1999.9314 (1999
-
(1999)
Developmental Biology
, vol.211
, pp. 306-322
-
-
Kidson, S.H.1
Kume, T.2
Deng, K.3
Winfrey, V.4
Hogan, B.L.5
-
10
-
-
27944471886
-
Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development
-
Evans A. L., & Gage P. J. Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet 14, 3347-3359, doi: 10.1093/hmg/ddi365 (2005
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3347-3359
-
-
Evans, A.L.1
Gage, P.J.2
-
11
-
-
0034234546
-
Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice
-
Semina E. V., Murray J. C., Reiter R., Hrstka R. F., & Graw J. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet 9, 1575-1585 (2000
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1575-1585
-
-
Semina, E.V.1
Murray, J.C.2
Reiter, R.3
Hrstka, R.F.4
Graw, J.5
-
12
-
-
0037423886
-
Modification of ocular defects in mouse developmental glaucoma models by tyrosinase
-
Libby R. T., et al. Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 299, 1578-1581, doi: 10.1126/science.1080095 (2003
-
(2003)
Science
, vol.299
, pp. 1578-1581
-
-
Libby, R.T.1
-
13
-
-
27744515121
-
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
-
Van Agtmael T., et al. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum Mol Genet 14, 3161-3168, doi: 10.1093/hmg/ddi348 (2005
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3161-3168
-
-
Van Agtmael, T.1
-
14
-
-
84857233906
-
Clinical features of anterior segment dysgenesis associated with congenital corneal opacities
-
Shigeyasu C., et al. Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. Cornea 31, 293-298, doi: 10.1097/ICO.0b013e31820cd2ab (2012
-
(2012)
Cornea
, vol.31
, pp. 293-298
-
-
Shigeyasu, C.1
-
15
-
-
84904268303
-
Incidence of peters anomaly and congenital corneal opacities interfering with vision in the United States
-
Kurilec J. M., & Zaidman G. W. Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. Cornea 33, 848-850, doi: 10.1097/ico.0000000000000182 (2014
-
(2014)
Cornea
, vol.33
, pp. 848-850
-
-
Kurilec, J.M.1
Zaidman, G.W.2
-
18
-
-
84904703878
-
Novel B3GALTL mutations in classic peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
-
Weh E., et al. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet 86, 142-148, doi: 10.1111/cge.12241 (2014
-
(2014)
Clin Genet
, vol.86
, pp. 142-148
-
-
Weh, E.1
-
19
-
-
33748673792
-
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
-
Lesnik Oberstein S. A., et al. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79, 562-566, doi: 10.1086/507567 (2006
-
(2006)
Am J Hum Genet
, vol.79
, pp. 562-566
-
-
Lesnik Oberstein, S.A.1
-
20
-
-
60549083110
-
Peters?-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1, 3-glucosyltransferase that modifies thrombospondin type 1 repeats
-
Heinonen T. Y., & Maki M. Peters?-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1, 3-glucosyltransferase that modifies thrombospondin type 1 repeats. Ann Med 41, 2-10, doi: 10.1080/07853890802301975 (2009
-
(2009)
Ann Med
, vol.41
, pp. 2-10
-
-
Heinonen, T.Y.1
Maki, M.2
-
21
-
-
84922945390
-
Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism
-
Vasudevan D., Takeuchi H., Johar S. S., Majerus E., & Haltiwanger R. S. Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. Curr Biol 25, 286-295, doi: 10.1016/j.cub.2014.11.049 (2015
-
(2015)
Curr Biol
, vol.25
, pp. 286-295
-
-
Vasudevan, D.1
Takeuchi, H.2
Johar, S.S.3
Majerus, E.4
Haltiwanger, R.S.5
-
22
-
-
34447132229
-
O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: Implications for the ADAMTS superfamily
-
Wang L. W., et al. O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily. J Biol Chem 282, 17024-17031 (2007
-
(2007)
J Biol Chem
, vol.282
, pp. 17024-17031
-
-
Wang, L.W.1
-
23
-
-
34447128163
-
O-fucosylation is required for ADAMTS13 secretion
-
Ricketts L. M., Dlugosz M., Luther K. B., Haltiwanger R. S., & Majerus E. M. O-fucosylation is required for ADAMTS13 secretion. J Biol Chem 282, 17014-17023 (2007
-
(2007)
J Biol Chem
, vol.282
, pp. 17014-17023
-
-
Ricketts, L.M.1
Dlugosz, M.2
Luther, K.B.3
Haltiwanger, R.S.4
Majerus, E.M.5
-
24
-
-
84926668745
-
Novel roles for O-linked glycans in protein folding
-
Vasudevan D., & Haltiwanger R. S. Novel roles for O-linked glycans in protein folding. Glycoconj J 31, 417-426, doi: 10.1007/s10719-014-9556-4 (2014
-
(2014)
Glycoconj J
, vol.31
, pp. 417-426
-
-
Vasudevan, D.1
Haltiwanger, R.S.2
-
25
-
-
4143112912
-
A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: The ADAMTS family
-
Apte S. S. A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. Int J Biochem Cell Biol 36, 981-985 2004
-
(2004)
Int J Biochem Cell Biol
, vol.36
, pp. 981-985
-
-
Apte, S.S.1
-
26
-
-
84930767729
-
Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics
-
Dubail J., & Apte S. S. Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics. Matrix Biol, doi: 10.1016/j.matbio.2015.03.001 2015
-
(2015)
Matrix Biol
-
-
Dubail, J.1
Apte, S.S.2
-
27
-
-
0038237345
-
Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to caenorhabditis elegans GON-1
-
Somerville R. P., et al. Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1. J Biol Chem 278, 9503-9513 (2003
-
(2003)
J Biol Chem
, vol.278
, pp. 9503-9513
-
-
Somerville, R.P.1
-
28
-
-
78649823007
-
Cooperation of two ADAMTS metalloproteases in closure of the mouse palate identifies a requirement for versican proteolysis in regulating palatal mesenchyme proliferation
-
Enomoto H., Nelson C., Somerville R. P. T., Mielke K., Dixon L., Powell K., & Apte S. S. Cooperation of two ADAMTS metalloproteases in closure of the mouse palate identifies a requirement for versican proteolysis in regulating palatal mesenchyme proliferation. Development 137, 4029-4038 (2010
-
(2010)
Development
, vol.137
, pp. 4029-4038
-
-
Enomoto, H.1
Nelson, C.2
Somerville, R.P.T.3
Mielke, K.4
Dixon, L.5
Powell, K.6
Apte, S.S.7
-
29
-
-
84904285713
-
A new Adamts9 conditional mouse allele identifies its non-redundant role in interdigital web regression
-
Dubail J., et al. A new Adamts9 conditional mouse allele identifies its non-redundant role in interdigital web regression. Genesis 52 702-712 10.1002/dvg.22784 2014
-
(2014)
Genesis
, vol.52
, pp. 702-712
-
-
Dubail, J.1
-
30
-
-
0041700100
-
A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation
-
Rao C., et al A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development 130 4665-4672 2003
-
(2003)
Development
, vol.130
, pp. 4665-4672
-
-
Rao, C.1
-
31
-
-
77952553665
-
Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies
-
Kern C. B., et al. Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies. Matrix Biol 29, 304-316, doi: S0945-053X(10)00009-0 [pii] 10.1016/j.matbio.2010.01.005 (2010
-
(2010)
Matrix Biol
, vol.29
, pp. 304-316
-
-
Kern, C.B.1
-
32
-
-
77749304050
-
Adamts9 is a cell-autonomously acting, anti-angiogenic metalloprotease expressed by microvascular endothelial cells
-
Koo B. H., et al. ADAMTS9 Is a Cell-Autonomously Acting, Anti-Angiogenic Metalloprotease Expressed by Microvascular Endothelial Cells. Am J Pathol, doi: ajpath.2010.090655 [pii] 10.2353/ajpath.2010.090655 2010
-
(2010)
Am J Pathol
-
-
Koo, B.H.1
-
33
-
-
33646922955
-
Two distinct pathways for O-fucosylation of epidermal growth factor-like or thrombospondin type 1 repeats
-
Luo Y., Nita-Lazar A., & Haltiwanger R. S. Two distinct pathways for O-fucosylation of epidermal growth factor-like or thrombospondin type 1 repeats. J Biol Chem 281, 9385-9392 (2006
-
(2006)
J Biol Chem
, vol.281
, pp. 9385-9392
-
-
Luo, Y.1
Nita-Lazar, A.2
Haltiwanger, R.S.3
-
34
-
-
33646233634
-
Protein O-fucosyltransferase 2 adds O-fucose to thrombospondin type 1 repeats
-
Luo Y., Koles K., Vorndam W., Haltiwanger R. S., & Panin V. M. Protein O-fucosyltransferase 2 adds O-fucose to thrombospondin type 1 repeats. J Biol Chem 281, 9393-9399 (2006
-
(2006)
J Biol Chem
, vol.281
, pp. 9393-9399
-
-
Luo, Y.1
Koles, K.2
Vorndam, W.3
Haltiwanger, R.S.4
Panin, V.M.5
-
35
-
-
33845988743
-
Identification and characterization of abeta1, 3-glucosyltransferase that synthesizes the Glc-beta1, 3-Fuc disaccharide on thrombospondin type 1 repeats
-
Kozma K., et al. Identification and characterization of abeta1, 3-glucosyltransferase that synthesizes the Glc-beta1, 3-Fuc disaccharide on thrombospondin type 1 repeats. J Biol Chem 281, 36742-36751 (2006
-
(2006)
J Biol Chem
, vol.281
, pp. 36742-36751
-
-
Kozma, K.1
-
36
-
-
33751353419
-
Molecular cloning and characterization of a novel human beta1, 3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain
-
Sato T., et al. Molecular cloning and characterization of a novel human beta1, 3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. Glycobiology 16, 1194-1206 (2006
-
(2006)
Glycobiology
, vol.16
, pp. 1194-1206
-
-
Sato, T.1
-
37
-
-
77956161127
-
O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation
-
Du J., et al O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation. Developmental biology 346, 25-38, doi: 10.1016/j.ydbio.2010.07.008 2010
-
(2010)
Developmental Biology
, vol.346
, pp. 25-38
-
-
Du, J.1
-
38
-
-
33744963541
-
Cell-surface processing of pro-ADAMTS9 by furin
-
Koo B. H., et al. Cell-surface processing of pro-ADAMTS9 by furin. J Biol Chem 281, 12485-12494 (2006
-
(2006)
J Biol Chem
, vol.281
, pp. 12485-12494
-
-
Koo, B.H.1
-
39
-
-
84937629934
-
Adamts9-mediated extracellular matrix dynamics regulates umbilical cord vascular smooth muscle differentiation and rotation
-
Nandadasa S., Nelson C. M., & Apte S. S. ADAMTS9-Mediated Extracellular Matrix Dynamics Regulates Umbilical Cord Vascular Smooth Muscle Differentiation and Rotation. Cell Rep 11, 1519-1528, doi: 10.1016/j.celrep.2015.05.005 (2015
-
(2015)
Cell Rep
, vol.11
, pp. 1519-1528
-
-
Nandadasa, S.1
Nelson, C.M.2
Apte, S.S.3
-
40
-
-
40149109938
-
Fourier domain optical coherence tomography with a linear-in-wavenumber spectrometer
-
Hu Z., & Rollins A. M. Fourier domain optical coherence tomography with a linear-in-wavenumber spectrometer. Opt Lett 32, 3525-3527 (2007
-
(2007)
Opt Lett
, vol.32
, pp. 3525-3527
-
-
Hu, Z.1
Rollins, A.M.2
-
41
-
-
84893423665
-
Ethanol exposure alters early cardiac function in the looping heart: A mechanism for congenital heart defects?
-
Karunamuni G., et al. Ethanol exposure alters early cardiac function in the looping heart: a mechanism for congenital heart defects?. Am J Physiol Heart Circ Physiol 306, H414-H421, doi: 10.1152/ajpheart.00600.2013 (2014
-
(2014)
Am J Physiol Heart Circ Physiol
, vol.306
, pp. H414-H421
-
-
Karunamuni, G.1
-
42
-
-
61849132989
-
The lens capsule
-
Danysh B. P., & Duncan M. K. The lens capsule. Exp Eye Res 88, 151-164, doi: 10.1016/j.exer.2008.08.002 (2009
-
(2009)
Exp Eye Res
, vol.88
, pp. 151-164
-
-
Danysh, B.P.1
Duncan, M.K.2
-
43
-
-
0037439268
-
Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney
-
Rossi M., et al. Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney. EMBO J 22, 236-245, doi: 10.1093/emboj/cdg019 (2003
-
(2003)
EMBO J
, vol.22
, pp. 236-245
-
-
Rossi, M.1
-
44
-
-
84893841071
-
Lens extrusion from Laminin alpha 1 mutant zebrafish
-
Pathania M., Semina E. V., & Duncan M. K. Lens extrusion from Laminin alpha 1 mutant zebrafish. ScientificWorldJournal 2014, 524929, doi: 10.1155/2014/524929 (2014
-
(2014)
ScientificWorldJournal
, vol.2014
, pp. 524929
-
-
Pathania, M.1
Semina, E.V.2
Duncan, M.K.3
-
45
-
-
34447336145
-
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
-
Gould D. B., Marchant J. K., Savinova O. V., Smith R. S., & John S. W. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet 16, 798-807, doi: 10.1093/hmg/ddm024 (2007
-
(2007)
Hum Mol Genet
, vol.16
, pp. 798-807
-
-
Gould, D.B.1
Marchant, J.K.2
Savinova, O.V.3
Smith, R.S.4
John, S.W.5
-
46
-
-
84928408657
-
Structure-function analysis of peroxidasin provides insight into the mechanism of collagen IV crosslinking
-
Lazar E., et al. Structure-function analysis of peroxidasin provides insight into the mechanism of collagen IV crosslinking. Free Radic Biol Med 83, 273-282, doi: 10.1016/j.freeradbiomed.2015.02.015 (2015
-
(2015)
Free Radic Biol Med
, vol.83
, pp. 273-282
-
-
Lazar, E.1
-
47
-
-
84908590724
-
Peroxidasin is essential for eye development in the mouse
-
Yan X., et al. Peroxidasin is essential for eye development in the mouse. Hum Mol Genet 23, 5597-5614, doi: 10.1093/hmg/ddu274 (2014
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5597-5614
-
-
Yan, X.1
-
48
-
-
40149083619
-
The secreted metalloprotease ADAMTS20 is required for melanoblast survival
-
Silver D. L., Hou L., Somerville R., Young M. E., Apte S. S., & Pavan W. J. The secreted metalloprotease ADAMTS20 is required for melanoblast survival. PLoS Genet 4, 1-15 (2008
-
(2008)
Plos Genet
, vol.4
, pp. 1-15
-
-
Silver, D.L.1
Hou, L.2
Somerville, R.3
Young, M.E.4
Apte, S.S.5
Pavan, W.J.6
-
49
-
-
84895961650
-
Integrin linked kinase (ILK) is required for lens epithelial cell survival, proliferation and differentiation
-
Teo Z. L., et al. Integrin linked kinase (ILK) is required for lens epithelial cell survival, proliferation and differentiation. Exp Eye Res 121, 130-142, doi: 10.1016/j.exer.2014.01.013 (2014
-
(2014)
Exp Eye Res
, vol.121
, pp. 130-142
-
-
Teo, Z.L.1
-
50
-
-
33846342950
-
Extracellular matrix and integrin signaling in lens development and cataract
-
Wederell E. D., & de Iongh R. U. Extracellular matrix and integrin signaling in lens development and cataract. Semin Cell Dev Biol 17, 759-776, doi: 10.1016/j.semcdb.2006.10.006 (2006
-
(2006)
Semin Cell Dev Biol
, vol.17
, pp. 759-776
-
-
Wederell, E.D.1
De Iongh, R.U.2
-
51
-
-
61849093062
-
Integrins in lens development and disease
-
Walker J., & Menko A. S. Integrins in lens development and disease. Exp Eye Res 88, 216-225, doi: 10.1016/j.exer.2008.06.020 (2009
-
(2009)
Exp Eye Res
, vol.88
, pp. 216-225
-
-
Walker, J.1
Menko, A.S.2
-
52
-
-
84989300287
-
Genetic and biochemical evidence that gastrulation defects in Pofut2 mutants result from defects in ADAMTS9 secretion
-
Benz B. A., et al. Genetic and biochemical evidence that gastrulation defects in Pofut2 mutants result from defects in ADAMTS9 secretion. Developmental biology 416, 111-122, doi: 10.1016/j.ydbio.2016.05.038 (2016
-
(2016)
Developmental Biology
, vol.416
, pp. 111-122
-
-
Benz, B.A.1
-
53
-
-
50449084307
-
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation
-
Le Goff C., et al. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet 40, 1119-1123 (2008
-
(2008)
Nat Genet
, vol.40
, pp. 1119-1123
-
-
Le Goff, C.1
-
54
-
-
6344237724
-
Adamts10 mutations in autosomal recessive weill-marchesani syndrome
-
Dagoneau N., et al. ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome. Am J Hum Genet 75, 801-806 (2004
-
(2004)
Am J Hum Genet
, vol.75
, pp. 801-806
-
-
Dagoneau, N.1
-
55
-
-
71849096809
-
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
-
Morales J., et al. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet 85, 558-568, doi: S0002-9297(09)00407-8 [pii] 10.1016/j.ajhg.2009.09.011 (2009
-
(2009)
Am J Hum Genet
, vol.85
, pp. 558-568
-
-
Morales, J.1
-
56
-
-
84875706378
-
Seven new loci associated with age-related macular degeneration
-
439e431-432
-
Fritsche L. G., et al. Seven new loci associated with age-related macular degeneration. Nat Genet 45, 433-439, 439e431-432, doi: 10.1038/ng.2578 (2013
-
(2013)
Nat Genet
, vol.45
, pp. 433-439
-
-
Fritsche, L.G.1
-
57
-
-
84904738934
-
ADAMTS9 locus associates with increased risk of wet AMD
-
Helisalmi S., et al. ADAMTS9 locus associates with increased risk of wet AMD. Acta Ophthalmol 92, e410, doi: 10.1111/aos.12341 (2014
-
(2014)
Acta Ophthalmol
, vol.92
, pp. e410
-
-
Helisalmi, S.1
-
58
-
-
84924027073
-
Chronic central serous chorioretinopathy is associated with genetic variants implicated in age-related macular degeneration
-
de Jong E. K., et al. Chronic central serous chorioretinopathy is associated with genetic variants implicated in age-related macular degeneration. Ophthalmology 122, 562-570, doi: 10.1016/j.ophtha.2014.09.026 (2015
-
(2015)
Ophthalmology
, vol.122
, pp. 562-570
-
-
De Jong, E.K.1
-
59
-
-
35548932872
-
A global double-fluorescent Cre reporter mouse
-
Muzumdar M. D., Tasic B., Miyamichi K., Li L., & Luo L. A global double-fluorescent Cre reporter mouse. Genesis 45 593-605 10.1002/dvg.20335 2007
-
(2007)
Genesis
, vol.45
, pp. 593-605
-
-
Muzumdar, M.D.1
Tasic, B.2
Miyamichi, K.3
Li, L.4
Luo, L.5
-
60
-
-
0034637534
-
Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly
-
Trask T. M., et al. Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly. J Biol Chem 275, 24400-24406, doi: 10.1074/jbc.M003665200 (2000
-
(2000)
J Biol Chem
, vol.275
, pp. 24400-24406
-
-
Trask, T.M.1
-
61
-
-
71549163138
-
ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression
-
McCulloch D. R., et al. ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression. Dev Cell 17, 687-698, doi: S1534-5807(09)00390-6 [pii] 10.1016/j.devcel.2009.09.008 (2009
-
(2009)
Dev Cell
, vol.17
, pp. 687-698
-
-
McCulloch, D.R.1
-
62
-
-
77956161887
-
O-fucosylation of thrombospondin type 1 repeats
-
Leonhard-Melief C., & Haltiwanger R S. O-fucosylation of thrombospondin type 1 repeats. Methods Enzymol 480, 401-416 10.1016/s0076-6879(10)80018-7 2010
-
(2010)
Methods Enzymol
, vol.480
, pp. 401-416
-
-
Leonhard-Melief, C.1
Haltiwanger, R.S.2
|