-
1
-
-
84893651437
-
Heart disease and stroke statistics - 2014 Update: A report from the American Heart Association
-
Go AS, Mozaffarian D, Roger VL, Benjamin EJ, Berry JD, Blaha MJ, Dai S, Ford ES, Fox CS, Franco S, Fullerton HJ, Gillespie C, Hailpern SM, Heit JA, Howard VJ, Huffman MD, Judd SE, Kissela BM, Kittner SJ, Lackland DT, Lichtman JH, Lisabeth LD, Mackey RH, Magid DJ, Marcus GM, Marelli A, Matchar DB, McGuire DK, Mohler ER 3rd, Moy CS, Mussolino ME, Neumar RW, Nichol G, Pandey DK, Paynter NP, Reeves MJ, Sorlie PD, Stein J, Towfighi A, Turan TN, Virani SS, Wong ND, Woo D, Turner MB; American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Heart disease and stroke statistics - 2014 update: a report from the American Heart Association. Circulation. 2014;129:e28-e292. doi: 10.1161/01.cir.0000441139.02102.80.
-
(2014)
Circulation
, vol.129
, pp. e28-e292
-
-
Go, A.S.1
Mozaffarian, D.2
Roger, V.L.3
Benjamin, E.J.4
Berry, J.D.5
Blaha, M.J.6
Dai, S.7
Ford, E.S.8
Fox, C.S.9
Franco, S.10
Fullerton, H.J.11
Gillespie, C.12
Hailpern, S.M.13
Heit, J.A.14
Howard, V.J.15
Huffman, M.D.16
Judd, S.E.17
Kissela, B.M.18
Kittner, S.J.19
Lackland, D.T.20
Lichtman, J.H.21
Lisabeth, L.D.22
Mackey, R.H.23
Magid, D.J.24
Marcus, G.M.25
Marelli, A.26
Matchar, D.B.27
McGuire, D.K.28
Mohler, E.R.29
Moy, C.S.30
Mussolino, M.E.31
Neumar, R.W.32
Nichol, G.33
Pandey, D.K.34
Paynter, N.P.35
Reeves, M.J.36
Sorlie, P.D.37
Stein, J.38
Towfighi, A.39
Turan, T.N.40
Virani, S.S.41
Wong, N.D.42
Woo, D.43
Turner, M.B.44
more..
-
2
-
-
0035837503
-
Spontaneous intracerebral hemorrhage
-
Qureshi AI, Tuhrim S, Broderick JP, Batjer HH, Hondo H, Hanley DF. Spontaneous intracerebral hemorrhage. N Engl J Med. 2001;344:1450-1460. doi: 10.1056/NEJM200105103441907.
-
(2001)
N Engl J Med
, vol.344
, pp. 1450-1460
-
-
Qureshi, A.I.1
Tuhrim, S.2
Broderick, J.P.3
Batjer, H.H.4
Hondo, H.5
Hanley, D.F.6
-
3
-
-
84867124426
-
COL4A1 and COL4A2 mutations and disease: Insights into pathogenic mechanisms and potential therapeutic targets
-
Kuo DS, Labelle-Dumais C, Gould DB. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet. 2012;21:R97-R110. doi: 10.1093/hmg/dds346.
-
(2012)
Hum Mol Genet
, vol.21
, pp. R97-R110
-
-
Kuo, D.S.1
Labelle-Dumais, C.2
Gould, D.B.3
-
4
-
-
84855852624
-
De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly
-
Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H. De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. Am J Hum Genet. 2012;90:86-90.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 86-90
-
-
Yoneda, Y.1
Haginoya, K.2
Arai, H.3
Yamaoka, S.4
Tsurusaki, Y.5
Doi, H.6
Miyake, N.7
Yokochi, K.8
Osaka, H.9
Kato, M.10
Matsumoto, N.11
Saitsu, H.12
-
5
-
-
84855843828
-
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke
-
Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet. 2012;90:91-101. doi: 10.1016/j.ajhg.2011.11.022.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 91-101
-
-
Jeanne, M.1
Labelle-Dumais, C.2
Jorgensen, J.3
Kauffman, W.B.4
Mancini, G.M.5
Favor, J.6
Valant, V.7
Greenberg, S.M.8
Rosand, J.9
Gould, D.B.10
-
6
-
-
84860133109
-
COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage
-
Weng YC, Sonni A, Labelle-Dumais C, de Leau M, Kauffman WB, Jeanne M, Biffi A, Greenberg SM, Rosand J, Gould DB. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage. Ann Neurol. 2012;71:470-477. doi: 10.1002/ana.22682.
-
(2012)
Ann Neurol
, vol.71
, pp. 470-477
-
-
Weng, Y.C.1
Sonni, A.2
Labelle-Dumais, C.3
De Leau, M.4
Kauffman, W.B.5
Jeanne, M.6
Biffi, A.7
Greenberg, S.M.8
Rosand, J.9
Gould, D.B.10
-
7
-
-
1442310569
-
Basement membrane assembly, stability and activities observed through a developmental lens
-
Yurchenco PD, Amenta PS, Patton BL. Basement membrane assembly, stability and activities observed through a developmental lens. Matrix Biol. 2004;22:521-538. doi: 10.1016/j.matbio.2003.10.006.
-
(2004)
Matrix Biol
, vol.22
, pp. 521-538
-
-
Yurchenco, P.D.1
Amenta, P.S.2
Patton, B.L.3
-
8
-
-
0023600043
-
Basement membrane structure in situ: Evidence for lateral associations in the type IV collagen network
-
Yurchenco PD, Ruben GC. Basement membrane structure in situ: evidence for lateral associations in the type IV collagen network. J Cell Biol. 1987;105(pt 1):2559-2568.
-
(1987)
J Cell Biol
, vol.105
, Issue.1
, pp. 2559-2568
-
-
Yurchenco, P.D.1
Ruben, G.C.2
-
9
-
-
33646843291
-
Mechanism of chain selection in the assembly of collagen IV: A prominent role for the alpha2 chain
-
Khoshnoodi J, Sigmundsson K, Cartailler JP, Bondar O, Sundaramoorthy M, Hudson BG. Mechanism of chain selection in the assembly of collagen IV: a prominent role for the alpha2 chain. J Biol Chem. 2006;281:6058-6069. doi: 10.1074/jbc.M506555200.
-
(2006)
J Biol Chem
, vol.281
, pp. 6058-6069
-
-
Khoshnoodi, J.1
Sigmundsson, K.2
Cartailler, J.P.3
Bondar, O.4
Sundaramoorthy, M.5
Hudson, B.G.6
-
10
-
-
0019800793
-
Type IV collagens' isolation and characterization of 7S collagen from human kidney, liver and lung
-
Dixit SN, Stuart JM, Seyer JM, Risteli J, Timpl R, Kang AH. Type IV collagens' isolation and characterization of 7S collagen from human kidney, liver and lung. Coll Relat Res. 1981;1:549-556.
-
(1981)
Coll Relat Res
, vol.1
, pp. 549-556
-
-
Dixit, S.N.1
Stuart, J.M.2
Seyer, J.M.3
Risteli, J.4
Timpl, R.5
Kang, A.H.6
-
11
-
-
0019948802
-
Basement membrane (type IV) collagen is a heteropolymer
-
Trüeb B, Gröbli B, Spiess M, Odermatt BF, Winterhalter KH. Basement membrane (type IV) collagen is a heteropolymer. J Biol Chem. 1982;257:5239-5245.
-
(1982)
J Biol Chem
, vol.257
, pp. 5239-5245
-
-
Trüeb, B.1
Gröbli, B.2
Spiess, M.3
Odermatt, B.F.4
Winterhalter, K.H.5
-
12
-
-
0028799026
-
The function of the NC1 domains in type IV collagen
-
Ries A, Engel J, Lustig A, Kühn K. The function of the NC1 domains in type IV collagen. J Biol Chem. 1995;270:23790-23794.
-
(1995)
J Biol Chem
, vol.270
, pp. 23790-23794
-
-
Ries, A.1
Engel, J.2
Lustig, A.3
Kühn, K.4
-
13
-
-
0034730769
-
Type IV collagen of the glomerular basement membrane: Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains
-
Boutaud A, Borza DB, Bondar O, Gunwar S, Netzer KO, Singh N, Ninomiya Y, Sado Y, Noelken ME, Hudson BG. Type IV collagen of the glomerular basement membrane: evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains. J Biol Chem. 2000;275:30716-30724. doi: 10.1074/jbc.M004569200.
-
(2000)
J Biol Chem
, vol.275
, pp. 30716-30724
-
-
Boutaud, A.1
Borza, D.B.2
Bondar, O.3
Gunwar, S.4
Netzer, K.O.5
Singh, N.6
Ninomiya, Y.7
Sado, Y.8
Noelken, M.E.9
Hudson, B.G.10
-
14
-
-
0025778486
-
Mutations in collagen genes: Causes of rare and some common diseases in humans
-
Kuivaniemi H, Tromp G, Prockop DJ. Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J. 1991;5:2052-2060.
-
(1991)
FASEB J
, vol.5
, pp. 2052-2060
-
-
Kuivaniemi, H.1
Tromp, G.2
Prockop, D.J.3
-
15
-
-
0021247323
-
Heritable diseases of collagen
-
Prockop DJ, Kivirikko KI. Heritable diseases of collagen. N Engl J Med. 1984;311:376-386. doi: 10.1056/NEJM198408093110606.
-
(1984)
N Engl J Med
, vol.311
, pp. 376-386
-
-
Prockop, D.J.1
Kivirikko, K.I.2
-
16
-
-
0025904728
-
The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper
-
Engel J, Prockop DJ. The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu Rev Biophys Biophys Chem. 1991;20:137-152. doi: 10.1146/annurev.bb.20.060191.001033.
-
(1991)
Annu Rev Biophys Biophys Chem
, vol.20
, pp. 137-152
-
-
Engel, J.1
Prockop, D.J.2
-
17
-
-
21044442223
-
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
-
Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005;308:1167-1171. doi: 10.1126/science.1109418.
-
(2005)
Science
, vol.308
, pp. 1167-1171
-
-
Gould, D.B.1
Phalan, F.C.2
Breedveld, G.J.3
Van Mil, S.E.4
Smith, R.S.5
Schimenti, J.C.6
Aguglia, U.7
Van Der Knaap, M.S.8
Heutink, P.9
John, S.W.10
-
18
-
-
84911434970
-
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations
-
Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. Hum Mol Genet. 2014;23:1709-1722. doi: 10.1093/hmg/ddt560.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1709-1722
-
-
Kuo, D.S.1
Labelle-Dumais, C.2
Mao, M.3
Jeanne, M.4
Kauffman, W.B.5
Allen, J.6
Favor, J.7
Gould, D.B.8
-
19
-
-
33847227672
-
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
-
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28:209-221. doi: 10.1002/humu.20429.
-
(2007)
Hum Mutat
, vol.28
, pp. 209-221
-
-
Marini, J.C.1
Forlino, A.2
Cabral, W.A.3
Barnes, A.M.4
San Antonio, J.D.5
Milgrom, S.6
Hyland, J.C.7
Körkkö, J.8
Prockop, D.J.9
De Paepe, A.10
Coucke, P.11
Symoens, S.12
Glorieux, F.H.13
Roughley, P.J.14
Lund, A.M.15
Kuurila-Svahn, K.16
Hartikka, H.17
Cohn, D.H.18
Krakow, D.19
Mottes, M.20
Schwarze, U.21
Chen, D.22
Yang, K.23
Kuslich, C.24
Troendle, J.25
Dalgleish, R.26
Byers, P.H.27
more..
-
20
-
-
34247866422
-
Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: An extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles
-
Favor J, Gloeckner CJ, Janik D, Klempt M, Neuhauser-Klaus A, Pretsch W, Schmahl W, Quintanilla-Fend L. Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles. Genetics. 2007;175:725-736.
-
(2007)
Genetics
, vol.175
, pp. 725-736
-
-
Favor, J.1
Gloeckner, C.J.2
Janik, D.3
Klempt, M.4
Neuhauser-Klaus, A.5
Pretsch, W.6
Schmahl, W.7
Quintanilla-Fend, L.8
-
21
-
-
0037444638
-
A noninvasive genetic/pharmacologic strategy for visualizing cell morphology and clonal relationships in the mouse
-
Badea TC, Wang Y, Nathans J. A noninvasive genetic/pharmacologic strategy for visualizing cell morphology and clonal relationships in the mouse. J Neurosci. 2003;23:2314-2322.
-
(2003)
J Neurosci
, vol.23
, pp. 2314-2322
-
-
Badea, T.C.1
Wang, Y.2
Nathans, J.3
-
22
-
-
0035865048
-
Tie2-Cre transgenic mice: A new model for endothelial cell-lineage analysis in vivo
-
Kisanuki YY, Hammer RE, Miyazaki J, Williams SC, Richardson JA, Yanagisawa M. Tie2-Cre transgenic mice: a new model for endothelial cell-lineage analysis in vivo. Dev Biol. 2001;230:230-242. doi: 10.1006/dbio.2000.0106.
-
(2001)
Dev Biol
, vol.230
, pp. 230-242
-
-
Kisanuki, Y.Y.1
Hammer, R.E.2
Miyazaki, J.3
Williams, S.C.4
Richardson, J.A.5
Yanagisawa, M.6
-
23
-
-
30344440869
-
Ephrin-B2 controls cell motility and adhesion during blood-vessel-wall assembly
-
Foo SS, Turner CJ, Adams S, Compagni A, Aubyn D, Kogata N, Lindblom P, Shani M, Zicha D, Adams RH. Ephrin-B2 controls cell motility and adhesion during blood-vessel-wall assembly. Cell. 2006;124:161-173. doi: 10.1016/j.cell.2005.10.034.
-
(2006)
Cell
, vol.124
, pp. 161-173
-
-
Foo, S.S.1
Turner, C.J.2
Adams, S.3
Compagni, A.4
Aubyn, D.5
Kogata, N.6
Lindblom, P.7
Shani, M.8
Zicha, D.9
Adams, R.H.10
-
24
-
-
0035170704
-
hGFAP-cre transgenic mice for manipulation of glial and neuronal function in vivo
-
Zhuo L, Theis M, Alvarez-Maya I, Brenner M, Willecke K, Messing A. hGFAP-cre transgenic mice for manipulation of glial and neuronal function in vivo. Genesis. 2001;31:85-94.
-
(2001)
Genesis
, vol.31
, pp. 85-94
-
-
Zhuo, L.1
Theis, M.2
Alvarez-Maya, I.3
Brenner, M.4
Willecke, K.5
Messing, A.6
-
25
-
-
73949140059
-
A robust and high-throughput Cre reporting and characterization system for the whole mouse brain
-
Madisen L, Zwingman TA, Sunkin SM, Oh SW, Zariwala HA, Gu H, Ng LL, Palmiter RD, Hawrylycz MJ, Jones AR, Lein ES, Zeng H. A robust and high-throughput Cre reporting and characterization system for the whole mouse brain. Nat Neurosci. 2010;13:133-140. doi: 10.1038/nn.2467.
-
(2010)
Nat Neurosci
, vol.13
, pp. 133-140
-
-
Madisen, L.1
Zwingman, T.A.2
Sunkin, S.M.3
Oh, S.W.4
Zariwala, H.A.5
Gu, H.6
Ng, L.L.7
Palmiter, R.D.8
Hawrylycz, M.J.9
Jones, A.R.10
Lein, E.S.11
Zeng, H.12
-
26
-
-
0028971366
-
Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen
-
Sado Y, Kagawa M, Kishiro Y, Sugihara K, Naito I, Seyer JM, Sugimoto M, Oohashi T, Ninomiya Y. Establishment by the rat lymph node method of epitope-defined monoclonal antibodies recognizing the six different alpha chains of human type IV collagen. Histochem Cell Biol. 1995;104:267-275.
-
(1995)
Histochem Cell Biol
, vol.104
, pp. 267-275
-
-
Sado, Y.1
Kagawa, M.2
Kishiro, Y.3
Sugihara, K.4
Naito, I.5
Seyer, J.M.6
Sugimoto, M.7
Oohashi, T.8
Ninomiya, Y.9
-
27
-
-
33645498692
-
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
-
Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med. 2006;354:1489-1496. doi: 10.1056/NEJMoa053727.
-
(2006)
N Engl J Med
, vol.354
, pp. 1489-1496
-
-
Gould, D.B.1
Phalan, F.C.2
Van Mil, S.E.3
Sundberg, J.P.4
Vahedi, K.5
Massin, P.6
Bousser, M.G.7
Heutink, P.8
Miner, J.H.9
Tournier-Lasserve, E.10
John, S.W.11
-
28
-
-
34247618247
-
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
-
Vahedi K, Kubis N, Boukobza M, Arnoult M, Massin P, Tournier-Lasserve E, Bousser MG. COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. Stroke. 2007;38:1461-1464. doi: 10.1161/STROKEAHA.106.475194.
-
(2007)
Stroke
, vol.38
, pp. 1461-1464
-
-
Vahedi, K.1
Kubis, N.2
Boukobza, M.3
Arnoult, M.4
Massin, P.5
Tournier-Lasserve, E.6
Bousser, M.G.7
-
29
-
-
84896489262
-
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy
-
Gunda B, Mine M, Kovács T, Hornyák C, Bereczki D, Várallyay G, Rudas G, Audrezet MP, Tournier-Lasserve E. COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. J Neurol. 2014;261:500-503. doi: 10.1007/s00415-013-7224-4.
-
(2014)
J Neurol
, vol.261
, pp. 500-503
-
-
Gunda, B.1
Mine, M.2
Kovács, T.3
Hornyák, C.4
Bereczki, D.5
Várallyay, G.6
Rudas, G.7
Audrezet, M.P.8
Tournier-Lasserve, E.9
-
30
-
-
84880184506
-
COL4A1 mutation revealed by an isolated brain hemorrhage
-
Corlobe A, Tournier-Lasserve E, Mine M, Menjot de Champfleur N, Carra Dalliere C, Ayrignac X, Labauge P, Arquizan C. COL4A1 mutation revealed by an isolated brain hemorrhage. Cerebrovasc Dis. 2013;35:593-594. doi: 10.1159/000351520.
-
(2013)
Cerebrovasc Dis
, vol.35
, pp. 593-594
-
-
Corlobe, A.1
Tournier-Lasserve, E.2
Mine, M.3
Menjot De Champfleur, N.4
Carra Dalliere, C.5
Ayrignac, X.6
Labauge, P.7
Arquizan, C.8
-
31
-
-
73349084959
-
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome
-
Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology. 2009;73:1873-1882. doi: 10.1212/WNL.0b013e3181c3fd12.
-
(2009)
Neurology
, vol.73
, pp. 1873-1882
-
-
Alamowitch, S.1
Plaisier, E.2
Favrole, P.3
Prost, C.4
Chen, Z.5
Van Agtmael, T.6
Marro, B.7
Ronco, P.8
-
32
-
-
34447336145
-
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
-
Gould DB, Marchant JK, Savinova OV, Smith RS, John SW. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet. 2007;16:798-807. doi: 10.1093/hmg/ddm024.
-
(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
-
33
-
-
79957998059
-
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans
-
Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011;7:e1002062. doi: 10.1371/journal.pgen.1002062.
-
(2011)
PLoS Genet
, vol.7
, pp. e1002062
-
-
Labelle-Dumais, C.1
Dilworth, D.J.2
Harrington, E.P.3
De Leau, M.4
Lyons, D.5
Kabaeva, Z.6
Manzini, M.C.7
Dobyns, W.B.8
Walsh, C.A.9
Michele, D.E.10
Gould, D.B.11
-
34
-
-
0024421465
-
Osteogenesis imperfect: The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype
-
Starman BJ, Eyre D, Charbonneau H, Harrylock M, Weis MA, Weiss L, Graham JM Jr, Byers PH. Osteogenesis imperfect: the position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. J Clin Invest. 1989;84:1206-1214. doi: 10.1172/JCI114286.
-
(1989)
J Clin Invest
, vol.84
, pp. 1206-1214
-
-
Starman, B.J.1
Eyre, D.2
Charbonneau, H.3
Harrylock, M.4
Weis, M.A.5
Weiss, L.6
Graham, J.M.7
Byers, P.H.8
-
35
-
-
0025777221
-
Osteogenesis imperfecta: Translation of mutation to phenotype
-
Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet. 1991;28:433-442.
-
(1991)
J Med Genet
, vol.28
, pp. 433-442
-
-
Byers, P.H.1
Wallis, G.A.2
Willing, M.C.3
-
36
-
-
0028050102
-
Osteogenesis imperfecta type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen
-
Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat H, Roberts EJ. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet. 1994;55:638-647.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 638-647
-
-
Willing, M.C.1
Deschenes, S.P.2
Scott, D.A.3
Byers, P.H.4
Slayton, R.L.5
Pitts, S.H.6
Arikat, H.7
Roberts, E.J.8
-
37
-
-
80052712639
-
Clinical and experimental applications of sodium phenylbutyrate
-
Iannitti T, Palmieri B. Clinical and experimental applications of sodium phenylbutyrate. Drugs R D. 2011;11:227-249. doi: 10.2165/11591280-000000000-00000.
-
(2011)
Drugs R D
, vol.11
, pp. 227-249
-
-
Iannitti, T.1
Palmieri, B.2
-
38
-
-
84903545868
-
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke
-
Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Hum Mol Genet. 2014;23:283-292. doi: 10.1093/hmg/ddt418.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 283-292
-
-
Murray, L.S.1
Lu, Y.2
Taggart, A.3
Van Regemorter, N.4
Vilain, C.5
Abramowicz, M.6
Kadler, K.E.7
Van Agtmael, T.8
-
39
-
-
0026082034
-
Transforming growth factor beta type 1 binds to collagen IV of basement membrane matrix: Implications for development
-
Paralkar VM, Vukicevic S, Reddi AH. Transforming growth factor beta type 1 binds to collagen IV of basement membrane matrix: implications for development. Dev Biol. 1991;143:303-308.
-
(1991)
Dev Biol
, vol.143
, pp. 303-308
-
-
Paralkar, V.M.1
Vukicevic, S.2
Reddi, A.H.3
-
40
-
-
51349143013
-
Type IV collagens regulate BMP signalling in Drosophila
-
Wang X, Harris RE, Bayston LJ, Ashe HL. Type IV collagens regulate BMP signalling in Drosophila. Nature. 2008;455:72-77. doi: 10.1038/nature07214.
-
(2008)
Nature
, vol.455
, pp. 72-77
-
-
Wang, X.1
Harris, R.E.2
Bayston, L.J.3
Ashe, H.L.4
-
41
-
-
84877055769
-
Collagen represses canonical Notch signaling and binds to Notch ectodomain
-
Zhang X, Meng H, Wang MM. Collagen represses canonical Notch signaling and binds to Notch ectodomain. Int J Biochem Cell Biol. 2013;45:1274-1280. doi: 10.1016/j.biocel.2013.03.020.
-
(2013)
Int J Biochem Cell Biol
, vol.45
, pp. 1274-1280
-
-
Zhang, X.1
Meng, H.2
Wang, M.M.3
-
42
-
-
0028989654
-
Beta 8 integrins mediate interactions of chick sensory neurons with laminin-1, collagen IV, and fibronectin
-
Venstrom K, Reichardt L. Beta 8 integrins mediate interactions of chick sensory neurons with laminin-1, collagen IV, and fibronectin. Mol Biol Cell. 1995;6:419-431.
-
(1995)
Mol Biol Cell
, vol.6
, pp. 419-431
-
-
Venstrom, K.1
Reichardt, L.2
-
43
-
-
0034194237
-
Anti-angiogenic cues from vascular basement membrane collagen
-
Colorado PC, Torre A, Kamphaus G, Maeshima Y, Hopfer H, Takahashi K, Volk R, Zamborsky ED, Herman S, Sarkar PK, Ericksen MB, Dhanabal M, Simons M, Post M, Kufe DW, Weichselbaum RR, Sukhatme VP, Kalluri R. Anti-angiogenic cues from vascular basement membrane collagen. Cancer Res. 2000;60:2520-2526.
-
(2000)
Cancer Res
, vol.60
, pp. 2520-2526
-
-
Colorado, P.C.1
Torre, A.2
Kamphaus, G.3
Maeshima, Y.4
Hopfer, H.5
Takahashi, K.6
Volk, R.7
Zamborsky, E.D.8
Herman, S.9
Sarkar, P.K.10
Ericksen, M.B.11
Dhanabal, M.12
Simons, M.13
Post, M.14
Kufe, D.W.15
Weichselbaum, R.R.16
Sukhatme, V.P.17
Kalluri, R.18
-
44
-
-
77950666806
-
Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume
-
Van Agtmael T, Bailey MA, Schlötzer-Schrehardt U, Craigie E, Jackson IJ, Brownstein DG, Megson IL, Mullins JJ. Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. Hum Mol Genet. 2010;19:1119-1128. doi: 10.1093/hmg/ddp584.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1119-1128
-
-
Van Agtmael, T.1
Bailey, M.A.2
Schlötzer-Schrehardt, U.3
Craigie, E.4
Jackson, I.J.5
Brownstein, D.G.6
Megson, I.L.7
Mullins, J.J.8
|