-
2
-
-
0033005185
-
An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families
-
Labauge P, Enjolras O, Bonerandi JJ, Laberge S, Dondurand M, Joujoux JM, Tournier-lasserve E. An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. Ann Neurol 1999;45:250-4.
-
(1999)
Ann Neurol
, vol.45
, pp. 250-254
-
-
Labauge, P.1
Enjolras, O.2
Bonerandi, J.J.3
Laberge, S.4
Dondurand, M.5
Joujoux, J.M.6
Tournier-lasserve, E.7
-
3
-
-
0034702087
-
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation
-
Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 2000;9:1351-5.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1351-1355
-
-
Eerola, I.1
Plate, K.H.2
Spiegel, R.3
Boon, L.M.4
Mulliken, J.B.5
Vikkula, M.6
-
5
-
-
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. [131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies]. Neurochirurgie. 1989;35:82-3, 128-31).
-
(1989)
Neurochirurgie
, vol.35
, pp. 82-83
-
-
Otten, P.1
Pizzolato, G.P.2
Rilliet, B.3
Berney, J.4
-
6
-
-
0034517320
-
Ultrastructural pathological features of cerebrovascular malformations: A preliminary report
-
Wong JH, Awad IA, Kim JH. Ultrastructural pathological features of cerebrovascular malformations: a preliminary report. Neurosurgery 2000;46:1454-9.
-
(2000)
Neurosurgery
, vol.46
, pp. 1454-1459
-
-
Wong, J.H.1
Awad, I.A.2
Kim, J.H.3
-
7
-
-
0034925464
-
Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations
-
Clatterbuck RE, Eberhart CG, Crain BJ, Rigamonti D. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry 2001;71:188-92.
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.71
, pp. 188-192
-
-
Clatterbuck, R.E.1
Eberhart, C.G.2
Crain, B.J.3
Rigamonti, D.4
-
8
-
-
32044438698
-
Ultrastructural characteristics of hemorrhagic, nonhemorrhagic, and recurrent cavernous malformations
-
Tu J, Stoodley MA, Morgan MK, Storer KP. Ultrastructural characteristics of hemorrhagic, nonhemorrhagic, and recurrent cavernous malformations. J Neurosurg 2005;103:903-9.
-
(2005)
J Neurosurg
, vol.103
, pp. 903-909
-
-
Tu, J.1
Stoodley, M.A.2
Morgan, M.K.3
Storer, K.P.4
-
9
-
-
0032512325
-
Hereditary cerebral cavernous angiomas: Clinical and genetic features in 57 French families
-
Societe Francaise de Neurochirurgie
-
Labauge P, Laberge S, Brunereau L, Levy C, Tournier-Lasserve E. Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Societe Francaise de Neurochirurgie. Lancet 1998;352:1892-7.
-
(1998)
Lancet
, vol.352
, pp. 1892-1897
-
-
Labauge, P.1
Laberge, S.2
Brunereau, L.3
Levy, C.4
Tournier-Lasserve, E.5
-
10
-
-
0032423860
-
Familial cavernous angioma: An unknown, known disease
-
Siegel AM. Familial cavernous angioma: an unknown, known disease. Acta Neurol Scand 1998;98:369-71.
-
(1998)
Acta Neurol Scand
, vol.98
, pp. 369-371
-
-
Siegel, A.M.1
-
11
-
-
0023820545
-
Cerebral cavernous malformations. Incidence and familial occurrence
-
Rigamonti D, Hadley MN, Drayer BP, Johnson PC, Hoenig-Rigamonti K, Knight JT, et al. Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med 1988;319:343-7.
-
(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
-
12
-
-
18744374458
-
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations
-
Cave-Riant F, Denier C, Labauge P, Cecillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. Eur J Hum Genet 2002;10:733-40.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 733-740
-
-
Cave-Riant, F.1
Denier, C.2
Labauge, P.3
Cecillon, M.4
Maciazek, J.5
Joutel, A.6
Laberge-Le Couteulx, S.7
Tournier-Lasserve, E.8
-
13
-
-
0028206928
-
The natural history of familial cavernous malformations: Results of an ongoing study
-
Zabramski JM, Wascher TM, Spetzler RF, Johnson B, Golfinos J, Drayer BP, Brown B, Rigamonti D, Browen G. The natural history of familial cavernous malformations: results of an ongoing study. J Neurosurg 1994;80:422-32.
-
(1994)
J Neurosurg
, vol.80
, pp. 422-432
-
-
Zabramski, J.M.1
Wascher, T.M.2
Spetzler, R.F.3
Johnson, B.4
Golfinos, J.5
Drayer, B.P.6
Brown, B.7
Rigamonti, D.8
Browen, G.9
-
14
-
-
0033015937
-
The natural history of cavernous malformations: A prospective study of 68 patients
-
Mortality JL, Wetzel M, Clatterbuck RE, Javedan S, Sheppard JM, Hoenig-Rigamonti K, Crone NE, Breiter SN, Lee RR, Rigamonti D. The natural history of cavernous malformations: a prospective study of 68 patients. Neurosurgery 1999;44:1166-71.
-
(1999)
Neurosurgery
, vol.44
, pp. 1166-1171
-
-
Mortality, J.L.1
Wetzel, M.2
Clatterbuck, R.E.3
Javedan, S.4
Sheppard, J.M.5
Hoenig-Rigamonti, K.6
Crone, N.E.7
Breiter, S.N.8
Lee, R.R.9
Rigamonti, D.10
-
15
-
-
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. A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 1995;4:453-8.
-
(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
-
16
-
-
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, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. 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 1998;7:1851-8.
-
(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
Steichen-Gersdorf, E.11
Sabroe, R.12
Kennedy, C.T.13
Mettler, G.14
Beis, M.J.15
Fryer, A.16
Awad, I.A.17
Lifton, R.P.18
-
17
-
-
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. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 1999;23:189-93.
-
(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
-
18
-
-
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. Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 1999;8:2325-33.
-
(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..
-
19
-
-
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. Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 1997;15:1043-9.
-
(1997)
Oncogene
, vol.15
, pp. 1043-1049
-
-
Serebriiskii, I.1
Estojak, J.2
Sonoda, G.3
Testa, J.R.4
Golemis, E.A.5
-
20
-
-
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. Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult. Mech Dev 2002;117:363-7.
-
(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
-
21
-
-
2142662938
-
Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis
-
Guzeloglu-Kayisli O, Kayisli UA, Amankulor NM, Voorhees JR, Gokce O, DiLuna ML, Laurans MS, Luleci G, Gunel M. Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis. J Neurosurg 2004;100:481-7.
-
(2004)
J Neurosurg
, vol.100
, pp. 481-487
-
-
Guzeloglu-Kayisli, O.1
Kayisli, U.A.2
Amankulor, N.M.3
Voorhees, J.R.4
Gokce, O.5
Diluna, M.L.6
Laurans, M.S.7
Luleci, G.8
Gunel, M.9
-
22
-
-
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, Gunel M. KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. Neurosurgery 2004;54:943-9.
-
(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
Gunel, M.6
-
23
-
-
1842559498
-
Ccm1 is required for arterial morphogenesis: Implications for the etiology of human cavernous malformations
-
Whitehead KJ, Plummer NW, Adams JA, Marchuk DA, Li DY. Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development 2004;131:1437-48.
-
(2004)
Development
, vol.131
, pp. 1437-1448
-
-
Whitehead, K.J.1
Plummer, N.W.2
Adams, J.A.3
Marchuk, D.A.4
Li, D.Y.5
-
24
-
-
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. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 2003;73:1459-64.
-
(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
-
25
-
-
10744230011
-
Mutations within the MGC4607 gene cause cerebral cavernous malformations
-
Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, Comoy J, Frerebeau P, Gilbert B, Houtteville JP, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau JJ, Nivelon-Chevallier A, Parker F, Redondo AM, Scarabin JM, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E; Societe Francaise de Neurochirurgie. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet 2004;74:326-37.
-
(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
Comoy, J.8
Frerebeau, P.9
Gilbert, B.10
Houtteville, J.P.11
Jan, M.12
Lapierre, F.13
Loiseau, H.14
Menei, P.15
Mercier, P.16
Moreau, J.J.17
Nivelon-Chevallier, A.18
Parker, F.19
Redondo, A.M.20
Scarabin, J.M.21
Tremoulet, M.22
Zerah, M.23
Maciazek, J.24
Tournier-LasserveE25
more..
-
26
-
-
19944394831
-
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
-
Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E; Societe Francaise de Neurochirurgie. Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations. Am J Hum Genet 2004;76:42-51.
-
(2004)
Am J Hum Genet
, vol.76
, pp. 42-51
-
-
Bergametti, F.1
Denier, C.2
Labauge, P.3
Arnoult, M.4
Boetto, S.5
Clanet, M.6
Coubes, P.7
Echenne, B.8
Ibrahim, R.9
Irthum, B.10
Jacquet, G.11
Lonjon, M.12
Moreau, J.J.13
Neau, J.P.14
Parker, F.15
Tremoulet, M.16
Tournier-Lasserve, E.17
-
27
-
-
10744233064
-
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations
-
Denier C, Labauge P, Brunereau L, Cave-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E; Societe Francaise de Neurochirgurgie; Societe de Neurochirurgie de Langue Francaise. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol 2004;55:213-20.
-
(2004)
Ann Neurol
, vol.55
, pp. 213-220
-
-
Denier, C.1
Labauge, P.2
Brunereau, L.3
Cave-Riant, F.4
Marchelli, F.5
Arnoult, M.6
Cecillon, M.7
Maciazek, J.8
Joutel, A.9
Tournier-Lasserve, E.10
-
28
-
-
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. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci USA 2002;99:10677-82.
-
(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
-
29
-
-
24144454827
-
CCM1 and CCM2 protein interactions in cell signaling: Implications for cerebral cavernous malformations pathogenesis
-
Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet 2005;14:2521-31.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2521-2531
-
-
Zawistowski, J.S.1
Stalheim, L.2
Uhlik, M.T.3
Abell, A.N.4
Ancrile, B.B.5
Johnson, G.L.6
Marchuk, D.A.7
-
30
-
-
7244251522
-
Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations
-
Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, Marchuk DA. Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. Am J Pathol 2004;165:1509-18.
-
(2004)
Am J Pathol
, vol.165
, pp. 1509-1518
-
-
Plummer, N.W.1
Gallione, C.J.2
Srinivasan, S.3
Zawistowski, J.S.4
Louis, D.N.5
Marchuk, D.A.6
-
31
-
-
0035542933
-
Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation
-
Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 2001;10:2953-60.
-
(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
-
32
-
-
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. KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Hum Mol Genet 2002;11:389-96.
-
(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
-
33
-
-
16344386563
-
Nuclear translocation of integrin cytoplasmic domain-associated protein 1 stimulates cellular proliferation
-
Fournier HN, Dupe-Manet S, Bouvard D, Luton F, Degani S, Block MR, Retta SF, Albiges-Rizo C. Nuclear translocation of integrin cytoplasmic domain-associated protein 1 stimulates cellular proliferation. Mol Biol Cell 2005;16:1859-71.
-
(2005)
Mol Biol Cell
, vol.16
, pp. 1859-1871
-
-
Fournier, H.N.1
Dupe-Manet, S.2
Bouvard, D.3
Luton, F.4
Degani, S.5
Block, M.R.6
Retta, S.F.7
Albiges-Rizo, C.8
-
35
-
-
33749236894
-
Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development
-
Epub ahead of print
-
Petit N, Blecon A, Denier C, Tournier-Lasserve E. Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development. Gene Expr Patterns, 2000 Jan 30 [Epub ahead of print].
-
(2000)
Gene Expr Patterns
, vol.30
-
-
Petit, N.1
Blecon, A.2
Denier, C.3
Tournier-Lasserve, E.4
-
36
-
-
32144445914
-
Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations
-
Plummer NW, Squire TL, Srinivasan S, Huang E, Zawistowski JS, Matsunami H, Hale LP, Marchuk DA. Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. Mamm Genome 2006;17:119-28.
-
(2006)
Mamm Genome
, vol.17
, pp. 119-128
-
-
Plummer, N.W.1
Squire, T.L.2
Srinivasan, S.3
Huang, E.4
Zawistowski, J.S.5
Matsunami, H.6
Hale, L.P.7
Marchuk, D.A.8
-
37
-
-
33644860682
-
CCM2 expression parallels that of CCM1
-
Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. CCM2 expression parallels that of CCM1. Stroke 2006;37:518-23.
-
(2006)
Stroke
, vol.37
, pp. 518-523
-
-
Seker, A.1
Pricola, K.L.2
Guclu, B.3
Ozturk, A.K.4
Louvi, A.5
Gunel, M.6
-
38
-
-
0344668554
-
Rac-MEKK3-MKK3 scaffolding for p38 MARK activation during hyperosmotic shock
-
Uhlik MT, Abell AN, Johnson NL, Sun W, Cuevas BD, Lobel-Rice KE, Home EA, Dell'Acqua ML, Johnson GL Rac-MEKK3-MKK3 scaffolding for p38 MARK activation during hyperosmotic shock. Nat Cell Biol 2003;5:1104-10.
-
(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.L.9
-
39
-
-
9644268238
-
Structural and evolutionary division of phosphotyrosine binding (PTB) domains
-
Uhlik MT, Temple B, Bencharit S, Kimple AJ, Siderovski DP, Johnson GL. Structural and evolutionary division of phosphotyrosine binding (PTB) domains. J Mol Biol 2005;345:1-20.
-
(2005)
J Mol Biol
, vol.345
, pp. 1-20
-
-
Uhlik, M.T.1
Temple, B.2
Bencharit, S.3
Kimple, A.J.4
Siderovski, D.P.5
Johnson, G.L.6
-
40
-
-
0033622470
-
Essential role of p38alpha MAP kinase in placental but not embryonic cardiovascular development
-
Adams RH, Porras A, Alonso G, Jones M, Vintersten K, Panelli S, Valladares A, Perez L, Klein R, Nebreda AR. Essential role of p38alpha MAP kinase in placental but not embryonic cardiovascular development. Mol Cell 2000;6:109-10.
-
(2000)
Mol Cell
, vol.6
, pp. 109-110
-
-
Adams, R.H.1
Porras, A.2
Alonso, G.3
Jones, M.4
Vintersten, K.5
Panelli, S.6
Valladares, A.7
Perez, L.8
Klein, R.9
Nebreda, A.R.10
-
41
-
-
0034050739
-
Mekk3 is essential for early embryonic cardiovascular development
-
Yang J, Boerm M, McCarty M, Bucana C, Fidler IJ, Zhuang Y, Su B. Mekk3 is essential for early embryonic cardiovascular development. Nat Genet 2000;24:309-13.
-
(2000)
Nat Genet
, vol.24
, pp. 309-313
-
-
Yang, J.1
Boerm, M.2
McCarty, M.3
Bucana, C.4
Fidler, I.J.5
Zhuang, Y.6
Su, B.7
-
42
-
-
33645727936
-
CCM3 mutations are uncommon in cerebral cavernous malformations
-
Verlaan DJ, Roussel J, Laurent SB, Elger CE, Siegel AM, Rouleau GA. CCM3 mutations are uncommon in cerebral cavernous malformations. Neurology 2005;65:1982-3.
-
(2005)
Neurology
, vol.65
, pp. 1982-1983
-
-
Verlaan, D.J.1
Roussel, J.2
Laurent, S.B.3
Elger, C.E.4
Siegel, A.M.5
Rouleau, G.A.6
-
43
-
-
34548083040
-
Low frequency of PDCD10 mutations in a panel of CCM3 probands: Potential for a fourth CCM locus
-
Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat 2006;27:118.
-
(2006)
Hum Mutat
, vol.27
, pp. 118
-
-
Liquori, C.L.1
Berg, M.J.2
Squitieri, F.3
Ottenbacher, M.4
Sorlie, M.5
Leedom, T.P.6
Cannella, M.7
Maglione, V.8
Ptacek, L.9
Johnson, E.W.10
Marchuk, D.A.11
-
45
-
-
0032231643
-
Coexistence of occult vascular malformations and developmental venous anomalies in the central nervous system: MR evaluation
-
Abe T, Singer RJ, Marks MP, Norbash AM, Crowley RS, Steinberg GK. Coexistence of occult vascular malformations and developmental venous anomalies in the central nervous system: MR evaluation. Am J Neuroradiol 1998;19:51-7.
-
(1998)
Am J Neuroradiol
, vol.19
, pp. 51-57
-
-
Abe, T.1
Singer, R.J.2
Marks, M.P.3
Norbash, A.M.4
Crowley, R.S.5
Steinberg, G.K.6
-
46
-
-
0037971118
-
Mutational analysis of 206 families with cavernous malformations
-
Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M. Mutational analysis of 206 families with cavernous malformations. J Neurosurg 2003;99:38-43.
-
(2003)
J Neurosurg
, vol.99
, pp. 38-43
-
-
Laurans, M.S.1
DiLuna, M.L.2
Shin, D.3
Niazi, F.4
Voorhees, J.R.5
Nelson-Williams, C.6
Johnson, E.W.7
Siegel, A.M.8
Steinberg, G.K.9
Berg, M.J.10
Scott, R.M.11
Tedeschi, G.12
Enevoldson, T.P.13
Anson, J.14
Rouleau, G.A.15
Ogilvy, C.16
Awad, I.A.17
Lifton, R.P.18
Gunel, M.19
-
47
-
-
1842528023
-
CCM1 mutation screen of sporadic cases with cerebral cavernous malformations
-
Verlaan DJ, Laurent SB, Sure U, Bertalanffy H, Andermann E, Andermann F, Rouleau GA, Siegel AM. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Neurology 2004;62:1213-15.
-
(2004)
Neurology
, vol.62
, pp. 1213-1215
-
-
Verlaan, D.J.1
Laurent, S.B.2
Sure, U.3
Bertalanffy, H.4
Andermann, E.5
Andermann, F.6
Rouleau, G.A.7
Siegel, A.M.8
-
48
-
-
0036201378
-
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")
-
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibe M, Warman ML, Tan OT, Olsen BR, Vikkula M. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet 2002;70:866-74.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 866-874
-
-
Brouillard, P.1
Boon, L.M.2
Mulliken, J.B.3
Enjolras, O.4
Ghassibe, M.5
Warman, M.L.6
Tan, O.T.7
Olsen, B.R.8
Vikkula, M.9
-
49
-
-
16844378663
-
Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion
-
Gault J, Shenkar R, Recksiek P, Awad IA. Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. Stroke 2005;36:872-4.
-
(2005)
Stroke
, vol.36
, pp. 872-874
-
-
Gault, J.1
Shenkar, R.2
Recksiek, P.3
Awad, I.A.4
-
50
-
-
4344612627
-
Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients
-
Marini V, Ferrera L, Pigatto F, Origone P, Garre C, Dorcaratto A, Viale G, Alberti F, Mareni C. Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients. Am J Med Genet A 2004;130:98-101.
-
(2004)
Am J Med Genet A
, vol.130
, pp. 98-101
-
-
Marini, V.1
Ferrera, L.2
Pigatto, F.3
Origone, P.4
Garre, C.5
Dorcaratto, A.6
Viale, G.7
Alberti, F.8
Mareni, C.9
-
51
-
-
0037426448
-
Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas
-
Reich P, Winkler J, Straube A, Steiger HJ, Peraud A. Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas. Neurology 2003;60:1135-8.
-
(2003)
Neurology
, vol.60
, pp. 1135-1138
-
-
Reich, P.1
Winkler, J.2
Straube, A.3
Steiger, H.J.4
Peraud, A.5
-
53
-
-
0030460775
-
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2
-
Vikkula M, Boon LM, Carraway KL, Calvert JT, Diamonti AJ, Goumnerov B, Pasyk KA, Marchuk DA, Warman ML, Cantley LC, Mulliken JB, Olsen BR. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 1996;87:1181-90.
-
(1996)
Cell
, vol.87
, pp. 1181-1190
-
-
Vikkula, M.1
Boon, L.M.2
Carraway, K.L.3
Calvert, J.T.4
Diamonti, A.J.5
Goumnerov, B.6
Pasyk, K.A.7
Marchuk, D.A.8
Warman, M.L.9
Cantley, L.C.10
Mulliken, J.B.11
Olsen, B.R.12
-
54
-
-
12844251216
-
Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations
-
Morris PN, Dunmore BJ, Tadros A, Marchuk DA, Darland DC, D'Amore PA, Brindle NP. Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations. J Mol Med 2005;83:58-63.
-
(2005)
J Mol Med
, vol.83
, pp. 58-63
-
-
Morris, P.N.1
Dunmore, B.J.2
Tadros, A.3
Marchuk, D.A.4
Darland, D.C.5
D'Amore, P.A.6
Brindle, N.P.7
-
55
-
-
0041378074
-
Blood vessels and nerves: Common signals, pathways and diseases
-
Carmeliet P. Blood vessels and nerves: common signals, pathways and diseases. Nat Rev Gener 2003;4:710-20.
-
(2003)
Nat Rev Gener
, vol.4
, pp. 710-720
-
-
Carmeliet, P.1
-
56
-
-
18244405769
-
Neural guidance molecules regulate vascular remodeling and vessel navigation
-
Eichmann A, Makinen T, Alitalo K. Neural guidance molecules regulate vascular remodeling and vessel navigation. Genes Dev 2005;19:1013-21.
-
(2005)
Genes Dev
, vol.19
, pp. 1013-1021
-
-
Eichmann, A.1
Makinen, T.2
Alitalo, K.3
|