-
1
-
-
1642352744
-
Sensitive genetic biomarkers for determining apoptosis in the brown bullhead
-
Busch CR, Heath DD, Hubberstey A (2004) Sensitive genetic biomarkers for determining apoptosis in the brown bullhead. Gene 329:1-10
-
(2004)
Gene
, vol.329
, pp. 1-10
-
-
Busch, C.R.1
Heath, D.D.2
Hubberstey, A.3
-
2
-
-
7844247192
-
Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27
-
Craig HD, Gunel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP (1998) Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 7: 1851-1858
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1851-1858
-
-
Craig, H.D.1
Gunel, M.2
Cepeda, O.3
Johnson, E.W.4
Ptacek, L.5
Steinberg, G.K.6
Ogilvy, C.S.7
Berg, M.J.8
Crawford, S.C.9
Scott, R.M.10
Sabroe, R.11
Kennedy, C.T.12
Mettler, G.13
Beis, M.J.14
Fryer, A.15
Awad, I.A.16
Lifton, R.P.17
-
3
-
-
0036768349
-
Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult
-
Denier C, Gasc JM, Chapon F, Domenga V, Lescoat C, Joutel A, Tournier-Lasserve E (2002) Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult. Mech Dev 117: 363-367
-
(2002)
Mech Dev
, vol.117
, pp. 363-367
-
-
Denier, C.1
Gasc, J.M.2
Chapon, F.3
Domenga, V.4
Lescoat, C.5
Joutel, A.6
Tournier-Lasserve, E.7
-
4
-
-
10744230011
-
Mutations within the MGC4607 gene cause cerebral cavernous malformations
-
Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, et al (2004) Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet 74:326-337
-
(2004)
Am J Hum Genet
, vol.74
, pp. 326-337
-
-
Denier, C.1
Goutagny, S.2
Labauge, P.3
Krivosic, V.4
Arnoult, M.5
Cousin, A.6
Benabid, A.L.7
-
5
-
-
0028941797
-
A gene responsible for cavernous malformations of the brain maps to chromosome 7q
-
Dubovsky J, Zabramski JM, Kurth J, Spetzler RF, Rich SS, Orr HT, Weber JL (1995) A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 4:453-458
-
(1995)
Hum Mol Genet
, vol.4
, pp. 453-458
-
-
Dubovsky, J.1
Zabramski, J.M.2
Kurth, J.3
Spetzler, R.F.4
Rich, S.S.5
Orr, H.T.6
Weber, J.L.7
-
6
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75:1305-1315
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
7
-
-
0036679193
-
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein
-
Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP (2002) KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci USA 99:10677-10682
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 10677-10682
-
-
Gunel, M.1
Laurans, M.S.2
Shin, D.3
DiLuna, M.L.4
Voorhees, J.5
Choate, K.6
Nelson-Williams, C.7
Lifton, R.P.8
-
8
-
-
12144290066
-
KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex
-
Guzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Lifton RP, Günel M (2004) KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. Neurosurgery 54:943-949
-
(2004)
Neurosurgery
, vol.54
, pp. 943-949
-
-
Guzeloglu-Kayisli, O.1
Amankulor, N.M.2
Voorhees, J.3
Luleci, G.4
Lifton, R.P.5
Günel, M.6
-
9
-
-
0037448540
-
Systematic functional analysis of the Caenorhabditis elegans using RNAi
-
Kamath RS, Fraser AG, Dong Y, Poulin G, Durbin R, Gotta M, Kanapin A, Le Bot N, Moreno S, Sohrmann M, Welchman DP, Zipperlen P, Ahringer J (2003) Systematic functional analysis of the Caenorhabditis elegans using RNAi. Nature 421:231-236
-
(2003)
Nature
, vol.421
, pp. 231-236
-
-
Kamath, R.S.1
Fraser, A.G.2
Dong, Y.3
Poulin, G.4
Durbin, R.5
Gotta, M.6
Kanapin, A.7
Le Bot, N.8
Moreno, S.9
Sohrmann, M.10
Welchman, D.P.11
Zipperlen, P.12
Ahringer, J.13
-
10
-
-
0032512325
-
Hereditary cerebral cavernous angiomas: Clinical and genetic features in 57 French families
-
Labauge P, Laberge S, Brunereau L, Levy C, Maciazek J, Tournier-Lasserve E (1998) Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Lancet 352:1892-1897
-
(1998)
Lancet
, vol.352
, pp. 1892-1897
-
-
Labauge, P.1
Laberge, S.2
Brunereau, L.3
Levy, C.4
Maciazek, J.5
Tournier-Lasserve, E.6
-
11
-
-
0032851217
-
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
-
Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E (1999) Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23:189-193
-
(1999)
Nat Genet
, vol.23
, pp. 189-193
-
-
Laberge-Le Couteulx, S.1
Jung, H.H.2
Labauge, P.3
Houtteville, J.P.4
Lescoat, C.5
Cecillon, M.6
Marechal, E.7
Joutel, A.8
Bach, J.F.9
Tournier-Lasserve, E.10
-
12
-
-
9144261692
-
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations
-
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA (2003) Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 73:1459-1464
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1459-1464
-
-
Liquori, C.L.1
Berg, M.J.2
Siegel, A.M.3
Huang, E.4
Zawistowski, J.S.5
Stoffer, T.6
Verlaan, D.7
Balogun, F.8
Hughes, L.9
Leedom, T.P.10
Plummer, N.W.11
Cannella, M.12
Maglione, V.13
Squitieri, F.14
Johnson, E.W.15
Rouleau, G.A.16
Ptacek, L.17
Marchuk, D.A.18
-
13
-
-
0024384777
-
131 Cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies
-
Otten P, Pizzolato GP, Rilliet B, Berney J (1989) 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies. Neurochirurgie 35:82-83, 128-131
-
(1989)
Neurochirurgie
, vol.35
, pp. 82-83
-
-
Otten, P.1
Pizzolato, G.P.2
Rilliet, B.3
Berney, J.4
-
14
-
-
0023820545
-
Cerebral cavernous malformations: Incidence and familial occurrence
-
Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, Spetzler RF (1988) Cerebral cavernous malformations: incidence and familial occurrence. N Engl J Med 319:343-347
-
(1988)
N Engl J Med
, vol.319
, pp. 343-347
-
-
Rigamonti, D.1
Hadley, M.N.2
Drayer, B.P.3
Johnson, P.C.4
Hoenig-Rigamonti, K.5
Knight, J.T.6
Spetzler, R.F.7
-
16
-
-
0032695959
-
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
-
Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA (1999) Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 8:2325-2333
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2325-2333
-
-
Sahoo, T.1
Johnson, E.W.2
Thomas, J.W.3
Kuehl, P.M.4
Jones, T.L.5
Dokken, C.G.6
Touchman, J.W.7
Gallione, C.J.8
Lee-Lin, S.Q.9
Kosofsky, B.10
Kurth, J.H.11
Louis, D.N.12
Mettler, G.13
Morrison, L.14
Gil-Nagel, A.15
Rich, S.S.16
Zabramski, J.M.17
Boguski, M.S.18
Green, E.D.19
Marchuk, D.A.20
more..
-
17
-
-
0030761145
-
Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22
-
Serebriiskii I, Estojak J, Sonoda G, Testa JR, Golemis EA (1997) Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 15:1043-1049
-
(1997)
Oncogene
, vol.15
, pp. 1043-1049
-
-
Serebriiskii, I.1
Estojak, J.2
Sonoda, G.3
Testa, J.R.4
Golemis, E.A.5
-
18
-
-
0027405720
-
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
-
Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines J, Martuza RL, MacDonald ME, Sizenger BR, Short MP, Buckler AJ, Gusella JF (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800
-
(1993)
Cell
, vol.72
, pp. 791-800
-
-
Trofatter, J.A.1
MacCollin, M.M.2
Rutter, J.L.3
Murrell, J.R.4
Duyao, M.P.5
Parry, D.M.6
Eldridge, R.7
Kley, N.8
Menon, A.G.9
Pulaski, K.10
Haase, V.H.11
Ambrose, C.M.12
Munroe, D.13
Bove, C.14
Haines, J.15
Martuza, R.L.16
MacDonald, M.E.17
Sizenger, B.R.18
Short, M.P.19
Buckler, A.J.20
Gusella, J.F.21
more..
-
19
-
-
0344668554
-
Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmostic shock
-
Uhlik MT, Abell AN, Johnson NL, Sun W, Cuevas BD, Lobel-Rice KE, Home EA, Dell'Acqua ML, Johnson G (2003) Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmostic shock. Nat Cell Biol 5:1104-1110
-
(2003)
Nat Cell Biol
, vol.5
, pp. 1104-1110
-
-
Uhlik, M.T.1
Abell, A.N.2
Johnson, N.L.3
Sun, W.4
Cuevas, B.D.5
Lobel-Rice, K.E.6
Home, E.A.7
Dell'Acqua, M.L.8
Johnson, G.9
-
20
-
-
0033361939
-
High rate of mosaicism in tuberous sclerosis complex
-
Verhoef S, Bakker L, Tempelaars AMP, Hesseling-Janssen ALW, Mazurcak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM (1999) High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 64:1632-1637
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1632-1637
-
-
Verhoef, S.1
Bakker, L.2
Tempelaars, A.M.P.3
Hesseling-Janssen, A.L.W.4
Mazurcak, T.5
Jozwiak, S.6
Fois, A.7
Bartalini, G.8
Zonnenberg, B.A.9
Van Essen, A.J.10
Lindhout, D.11
Halley, D.J.12
Van Den Ouweland, A.M.13
-
21
-
-
0025369709
-
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
-
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, et al (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192
-
(1990)
Cell
, vol.62
, pp. 187-192
-
-
Viskochil, D.1
Buchberg, A.M.2
Xu, G.3
Cawthon, R.M.4
Stevens, J.5
Wolff, R.K.6
Culver, M.7
Carey, J.C.8
Copeland, N.G.9
Jenkins, N.A.10
-
22
-
-
11144299824
-
cDNA cloning and expression of an apoptosis-related gene, human TFAR-15 gene
-
Wang YG, Liu HT, Zhang YM, Ma DL (1999) cDNA cloning and expression of an apoptosis-related gene, human TFAR-15 gene. Science in China series C-life sciences 42:323-329
-
(1999)
Science in China Series C-Life Sciences
, vol.42
, pp. 323-329
-
-
Wang, Y.G.1
Liu, H.T.2
Zhang, Y.M.3
Ma, D.L.4
-
23
-
-
1842559498
-
Ccm1 is required for arterial morphogenesis: Implications for the etiology of human cavernous malformations
-
Whitehead KJ, Plummer NW, Adams J, Marchuk DA, Li DY (2004) Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development 131:1437-1448
-
(2004)
Development
, vol.131
, pp. 1437-1448
-
-
Whitehead, K.J.1
Plummer, N.W.2
Adams, J.3
Marchuk, D.A.4
Li, D.Y.5
-
24
-
-
0037084658
-
KRIT1 association with the integrin-binding protein ICAP-1: A new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis
-
Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA (2002) KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Hum Mol Genet 11:389-396
-
(2002)
Hum Mol Genet
, vol.11
, pp. 389-396
-
-
Zawistowski, J.S.1
Serebriiskii, I.G.2
Lee, M.F.3
Golemis, E.A.4
Marchuk, D.A.5
-
25
-
-
0035542933
-
Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation
-
Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC (2001) Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 10:2953-2960
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2953-2960
-
-
Zhang, J.1
Clatterbuck, R.E.2
Rigamonti, D.3
Chang, D.D.4
Dietz, H.C.5
|