-
1
-
-
0021614384
-
Epidemiologie et constitution d'un registre de population a propos d'une concentration geographique d'une maladie hereditaire rare
-
Plauchu, H. and Bideau, H. (1984) Epidemiologie et constitution d'un registre de population a propos d'une concentration geographique d'une maladie hereditaire rare. Population, 4-5, 765-786.
-
(1984)
Population
, vol.4-5
, pp. 765-786
-
-
Plauchu, H.1
Bideau, H.2
-
2
-
-
0022502919
-
Gastrointestinal lesions in hereditary hemorrhagic telangiectasia
-
Vase, P. and Grove, O. (1986) Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology, 91, 1079-1083.
-
(1986)
Gastroenterology
, vol.91
, pp. 1079-1083
-
-
Vase, P.1
Grove, O.2
-
3
-
-
0026683949
-
Hereditary haemorrhagic telangieclasia: A clinical analysis
-
Porteous, M.E., Bum, J. and Proctor, S.J. (1992) Hereditary haemorrhagic telangieclasia: a clinical analysis, J. Med. Genet., 29, 527-530.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 527-530
-
-
Porteous, M.E.1
Bum, J.2
Proctor, S.J.3
-
4
-
-
0027425508
-
Cerebral arteriovenous malformations in the Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations
-
Jessurun, G.A., Kamphuis, D.J., van der Zande, F.H. and Nossent, J.C. (1993) Cerebral arteriovenous malformations in the Netherlands Antilles. High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple cerebral arteriovenous malformations. Clin. Neurol. Neurosurg., 95, 193-198.
-
(1993)
Clin. Neurol. Neurosurg.
, vol.95
, pp. 193-198
-
-
Jessurun, G.A.1
Kamphuis, D.J.2
Van Der Zande, F.H.3
Nossent, J.C.4
-
5
-
-
0028132592
-
Hereditary hemorrhagic telangiectasia: A disorder in search of the genetics community
-
Guttmacher, A.E., McKinnon, W.C. and Upton, M.D. (1994) Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community [letter]. Am. J. Med. Genet., 52, 252-253.
-
(1994)
Am. J. Med. Genet.
, vol.52
, pp. 252-253
-
-
Guttmacher, A.E.1
McKinnon, W.C.2
Upton, M.D.3
-
6
-
-
0032894219
-
Spinal cord arteriovenous malformations in two patients with hereditary hemorrhagic telangiectasia
-
Mandzia, J.L., ter Brugge, K.G., Faughnan, M.E. and Hyland, R.H. (1999) Spinal cord arteriovenous malformations in two patients with hereditary hemorrhagic telangiectasia. Childs Nerv. Syst., 15, 80-83.
-
(1999)
Childs Nerv. Syst.
, vol.15
, pp. 80-83
-
-
Mandzia, J.L.1
Ter Brugge, K.G.2
Faughnan, M.E.3
Hyland, R.H.4
-
7
-
-
0029986771
-
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): New insights in pathogenesis, complications, and treatment
-
Haitjema, T., Westermann, C.J., Overtoom, T.T., Timmer, R., Disch, F., Mauser, H. and Lammers, J.W. (1996) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch. Intern. Med., 156, 714-719.
-
(1996)
Arch. Intern. Med.
, vol.156
, pp. 714-719
-
-
Haitjema, T.1
Westermann, C.J.2
Overtoom, T.T.3
Timmer, R.4
Disch, F.5
Mauser, H.6
Lammers, J.W.7
-
8
-
-
0028171579
-
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
McAllister, K.A., Grogg, K.M., Johnson, D.W., Gallione, C.J., Baldwin, M.A., Jackson, C.E., Helmbold, E.A., Markel, D.S., McKinnon, W.C., Murrell, J. et al. (1994) Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet., 8, 345-351.
-
(1994)
Nature Genet.
, vol.8
, pp. 345-351
-
-
McAllister, K.A.1
Grogg, K.M.2
Johnson, D.W.3
Gallione, C.J.4
Baldwin, M.A.5
Jackson, C.E.6
Helmbold, E.A.7
Markel, D.S.8
McKinnon, W.C.9
Murrell, J.10
-
9
-
-
0028786163
-
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
-
McAllister, K.A., Baldwin, M.A., Thukkani, A.K., Gallione, C.J., Berg, J.N., Porteous, M.E., Guttmacher, A.E. and Marchuk, D.A. (1995) Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum. Mol. Genet., 4, 1983-1985.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1983-1985
-
-
McAllister, K.A.1
Baldwin, M.A.2
Thukkani, A.K.3
Gallione, C.J.4
Berg, J.N.5
Porteous, M.E.6
Guttmacher, A.E.7
Marchuk, D.A.8
-
10
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
Johnson, D.W., Berg, J.N., Baldwin, M.A., Gallione, C.J., Marondel, I., Yoon, S.J., Stenzel, T.T., Speer, M., Pericak-Vance, M.A., Diamond, A. et al. (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nature Genet., 13, 189-195.
-
(1996)
Nature Genet.
, vol.13
, pp. 189-195
-
-
Johnson, D.W.1
Berg, J.N.2
Baldwin, M.A.3
Gallione, C.J.4
Marondel, I.5
Yoon, S.J.6
Stenzel, T.T.7
Speer, M.8
Pericak-Vance, M.A.9
Diamond, A.10
-
11
-
-
0030813490
-
The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
-
Berg, J.N., Gallione, C.J., Stenzel, T.T., Johnson, D.W., Allen, W.P., Schwartz, C.E., Jackson, C.E., Porteous, M.E. and Marchuk, D.A. (1997) The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am. J. Hum. Genet., 61, 60-67.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 60-67
-
-
Berg, J.N.1
Gallione, C.J.2
Stenzel, T.T.3
Johnson, D.W.4
Allen, W.P.5
Schwartz, C.E.6
Jackson, C.E.7
Porteous, M.E.8
Marchuk, D.A.9
-
12
-
-
0030860380
-
Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia
-
Shovlin, C.L., Hughes, J.M., Scott, J., Seidman, C.E. and Seidman, J.G. (1997) Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am. J. Hum. Genet., 61, 68-79.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 68-79
-
-
Shovlin, C.L.1
Hughes, J.M.2
Scott, J.3
Seidman, C.E.4
Seidman, J.G.5
-
13
-
-
0033537831
-
Assignment of transforming growth factor β1 and β3 and a third new ligand to the type I receptor ALK-1
-
Lux, A., Attisano, L. and Marchuk, D.A. (1999) Assignment of transforming growth factor β1 and β3 and a third new ligand to the type I receptor ALK-1. J. Biol. Chem., 274, 9984-9992.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 9984-9992
-
-
Lux, A.1
Attisano, L.2
Marchuk, D.A.3
-
14
-
-
0023784185
-
Identification of a human endothelial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line
-
Gougos, A. and Letarte, M. (1988) Identification of a human endothelial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line. J. Immunol., 141, 1925-1933.
-
(1988)
J. Immunol.
, vol.141
, pp. 1925-1933
-
-
Gougos, A.1
Letarte, M.2
-
15
-
-
0025310515
-
Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells
-
Gougos, A. and Letarte, M. (1990) Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J. Biol. Chem., 265, 8361-8364.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 8361-8364
-
-
Gougos, A.1
Letarte, M.2
-
16
-
-
0026585507
-
Identification of distinct epitopes of endoglin, an RGD-containing glycoprotein of endothelial cells, leukemic cells, and syncytiotrophoblasts
-
Gougos, A., St Jacques, S., Greaves, A., O'Connell, P.J., d'Apice, A.J., Buhring, H.J., Bernabeu, C., van Mourik, J.A. and Letarte, M. (1992) Identification of distinct epitopes of endoglin, an RGD-containing glycoprotein of endothelial cells, leukemic cells, and syncytiotrophoblasts. Int. Immol., 4, 83-92.
-
(1992)
Int. Immol.
, vol.4
, pp. 83-92
-
-
Gougos, A.1
St Jacques, S.2
Greaves, A.3
O'Connell, P.J.4
D'Apice, A.J.5
Buhring, H.J.6
Bernabeu, C.7
Van Mourik, J.A.8
Letarte, M.9
-
17
-
-
0026599008
-
Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen
-
Lastres, P., Bellon, T., Cabanas, C., Sanchez-Madrid, F., Acevedo, A., Gougos, A., Letarte, M. and Bernabeu, C. (1992) Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen. Eur. J. Immunol., 22, 393-397.
-
(1992)
Eur. J. Immunol.
, vol.22
, pp. 393-397
-
-
Lastres, P.1
Bellon, T.2
Cabanas, C.3
Sanchez-Madrid, F.4
Acevedo, A.5
Gougos, A.6
Letarte, M.7
Bernabeu, C.8
-
18
-
-
15844419905
-
Endoglin modulates cellular responses to TGF-β1
-
Lastres, P., Letamendia, A., Zhang, H., Rius, C., Almendro, N., Raab, U., Lopez, L.A., Langa, C., Fabra, A., Letarte, M. and Bernabeu, C. (1996) Endoglin modulates cellular responses to TGF-β1. J. Cell Biol., 133, 1109-1121.
-
(1996)
J. Cell Biol.
, vol.133
, pp. 1109-1121
-
-
Lastres, P.1
Letamendia, A.2
Zhang, H.3
Rius, C.4
Almendro, N.5
Raab, U.6
Lopez, L.A.7
Langa, C.8
Fabra, A.9
Letarte, M.10
Bernabeu, C.11
-
19
-
-
0026646785
-
Endoglin is a component of the transforming growth factor-β receptor system in human endothelial cells
-
Cheifetz, S., Bellon, T., Cales, C., Vera, S., Bernabeu, C, Massague, J. and Letarte, M. (1992) Endoglin is a component of the transforming growth factor-β receptor system in human endothelial cells. J. Biol. Chem., 267, 19027-19030.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 19027-19030
-
-
Cheifetz, S.1
Bellon, T.2
Cales, C.3
Vera, S.4
Bernabeu, C.5
Massague, J.6
Letarte, M.7
-
20
-
-
0030071563
-
Endoglin is a component of the transforming growth factor (TGF)-β receptor complex of human pre-B leukemic cells
-
Zhang, H., Shaw, A.R., Mak, A. and Letarte, M. (1996) Endoglin is a component of the transforming growth factor (TGF)-β receptor complex of human pre-B leukemic cells. J. Immunol., 156, 564-573.
-
(1996)
J. Immunol.
, vol.156
, pp. 564-573
-
-
Zhang, H.1
Shaw, A.R.2
Mak, A.3
Letarte, M.4
-
21
-
-
0032742527
-
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1
-
Pece-Barbara, N., Cymerman, U., Vera, S., Marchuk, D.A. and Letarte, M. (1999) Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum. Mol. Genet., 8, 2171-2181.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2171-2181
-
-
Pece-Barbara, N.1
Cymerman, U.2
Vera, S.3
Marchuk, D.A.4
Letarte, M.5
-
22
-
-
0032484022
-
Role of endoglin in cellular responses to transforming growth factor-β. A comparative study with betaglycan
-
Letamendia, A., Lastres, P., Botella, L.M., Raab, U., Langa, C., Velasco, B., Attisano, L. and Bernabeu, C. (1998) Role of endoglin in cellular responses to transforming growth factor-β. A comparative study with betaglycan. J. Biol. Chem., 273, 33011-33019.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 33011-33019
-
-
Letamendia, A.1
Lastres, P.2
Botella, L.M.3
Raab, U.4
Langa, C.5
Velasco, B.6
Attisano, L.7
Bernabeu, C.8
-
23
-
-
0031045556
-
A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia
-
Yamaguchi, H., Azuma, H., Shigekiyo, T., Inoue, H. and Saito, S. (1997) A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. Thromb. Haemostasis, 77, 243-247.
-
(1997)
Thromb. Haemostasis
, vol.77
, pp. 243-247
-
-
Yamaguchi, H.1
Azuma, H.2
Shigekiyo, T.3
Inoue, H.4
Saito, S.5
-
24
-
-
7144222768
-
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
-
Gallione, C.J., Klaus, D.J., Yeh, E.Y., Stenzel, T.T., Xue, Y., Anthony, K.B., McAllister, K.A., Baldwin, M.A., Berg, J.N., Lux, A. et al. (1998) Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum. Mutat., 11, 286-294.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 286-294
-
-
Gallione, C.J.1
Klaus, D.J.2
Yeh, E.Y.3
Stenzel, T.T.4
Xue, Y.5
Anthony, K.B.6
McAllister, K.A.7
Baldwin, M.A.8
Berg, J.N.9
Lux, A.10
-
25
-
-
0030781148
-
Mutant endoglin in hereditary hemorrhagic telangiectasia type I is transiently expressed intracellularly and is not a dominant-negative
-
Pece, N., Vera, S., Cymerman, L., White Jr, R.I., Wrana, J.L. and Letarte, M. (1997) Mutant endoglin in hereditary hemorrhagic telangiectasia type I is transiently expressed intracellularly and is not a dominant-negative. J. Clin. Invest., 100, 2568-2579.
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 2568-2579
-
-
Pece, N.1
Vera, S.2
Cymerman, L.3
White R.I., Jr.4
Wrana, J.L.5
Letarte, M.6
-
26
-
-
7844238061
-
Novel missense and frameshift mutations in the activin receptor-like kinase-1 in HHT
-
Klaus, D.J., Gallione, C.J., Anthony, K., Yen, E.Y., Yu, J., Lux, A., Johnson, D.W. and Marchuk, D.A. (1998) Novel missense and frameshift mutations in the activin receptor-like kinase-1 in HHT. Human Mutation: Online Mutations in Brief, No. 164 (http:/humu.edoc.com/1059-7794/html/ mutation.klautext.htm).
-
(1998)
Human Mutation: Online Mutations in Brief
, vol.164
-
-
Klaus, D.J.1
Gallione, C.J.2
Anthony, K.3
Yen, E.Y.4
Yu, J.5
Lux, A.6
Johnson, D.W.7
Marchuk, D.A.8
-
27
-
-
0028014337
-
The molecular basis of genetic dominance
-
Wilkie, A.O. (1994) The molecular basis of genetic dominance. J. Med. Genet., 31, 89-98.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 89-98
-
-
Wilkie, A.O.1
-
28
-
-
0030808710
-
Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments
-
Pichuantes, S., Vera, S., Bourdeau, A., Pece, N., Kumar, S., Wayner, E.A. and Letarte, M. (1997) Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments. Tissue Antigens, 50, 265-276.
-
(1997)
Tissue Antigens
, vol.50
, pp. 265-276
-
-
Pichuantes, S.1
Vera, S.2
Bourdeau, A.3
Pece, N.4
Kumar, S.5
Wayner, E.A.6
Letarte, M.7
-
29
-
-
0345465663
-
Integration of endoplasmic reticulum signaling in health and disease
-
Aridor, M. and Balch, W.E. (1999) Integration of endoplasmic reticulum signaling in health and disease. Nature Med., 5, 745-751.
-
(1999)
Nature Med.
, vol.5
, pp. 745-751
-
-
Aridor, M.1
Balch, W.E.2
-
30
-
-
0031723937
-
Glycoproteins and their relationship to human disease
-
Brockhausen, I., Schutzbach, J. and Kuhns, W. (1998) Glycoproteins and their relationship to human disease. Acta Anat., 161, 36-78.
-
(1998)
Acta Anat.
, vol.161
, pp. 36-78
-
-
Brockhausen, I.1
Schutzbach, J.2
Kuhns, W.3
-
31
-
-
0028339518
-
Quality control in the secretory pathway: Retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus
-
Hammond, C. and Helenius, A. (1994) Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus. J. Cell Biol., 126, 41-52.
-
(1994)
J. Cell Biol.
, vol.126
, pp. 41-52
-
-
Hammond, C.1
Helenius, A.2
-
32
-
-
0029094253
-
Quality control in the secretory pathway
-
Hammond, C. and Helenius, A. (1995) Quality control in the secretory pathway. Curr. Opin. Cell Biol., 7, 523-529.
-
(1995)
Curr. Opin. Cell Biol.
, vol.7
, pp. 523-529
-
-
Hammond, C.1
Helenius, A.2
-
33
-
-
0032321747
-
Protein N-glycosylation: Molecular genetics and functional significance
-
Kukuruzinska, M.A. and Lennon, K. (1998) Protein N-glycosylation: molecular genetics and functional significance. Crit. Rev. Oral Biol. Med., 9, 415-448.
-
(1998)
Crit. Rev. Oral Biol. Med.
, vol.9
, pp. 415-448
-
-
Kukuruzinska, M.A.1
Lennon, K.2
-
34
-
-
0029904281
-
Influence of the carbohydrate moiety on the stability of glycoproteins
-
Wang, C., Eufemi, M., Turano, C. and Giartosio, A. (1996) Influence of the carbohydrate moiety on the stability of glycoproteins. Biochemistry, 35, 7299-7307.
-
(1996)
Biochemistry
, vol.35
, pp. 7299-7307
-
-
Wang, C.1
Eufemi, M.2
Turano, C.3
Giartosio, A.4
-
35
-
-
0033136689
-
Expression of normal and truncated forms of human endoglin
-
Raab, U., Velasco, B., Lastres, P., Letamendia, A., Cales, C., Langa, C., Tapia, E., Lopez-Bote, J.P., Paez, E. and Bernabeu, C. (1999) Expression of normal and truncated forms of human endoglin. Biochem. J., 339, 579-588.
-
(1999)
Biochem. J.
, vol.339
, pp. 579-588
-
-
Raab, U.1
Velasco, B.2
Lastres, P.3
Letamendia, A.4
Cales, C.5
Langa, C.6
Tapia, E.7
Lopez-Bote, J.P.8
Paez, E.9
Bernabeu, C.10
-
36
-
-
0032475976
-
Identification of sorting determinants in the C-terminal cytoplasmic tails of the γ-aminobutyric acid transporters GAT-2 and GAT-3
-
Muth, T.R., Ahn, J. and Caplan, M.J. (1998) Identification of sorting determinants in the C-terminal cytoplasmic tails of the γ-aminobutyric acid transporters GAT-2 and GAT-3. J. Biol. Chem., 273, 25616-25627.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 25616-25627
-
-
Muth, T.R.1
Ahn, J.2
Caplan, M.J.3
-
37
-
-
0030734979
-
PDZ domains and the formation of protein networks at the plasma membrane
-
Fanning, A.S. and Anderson, J.M. (1998) PDZ domains and the formation of protein networks at the plasma membrane. Curr. Top. Microbiol. Immunol., 228, 209-233.
-
(1998)
Curr. Top. Microbiol. Immunol.
, vol.228
, pp. 209-233
-
-
Fanning, A.S.1
Anderson, J.M.2
-
39
-
-
0029098659
-
Domain interaction between NMDA receptor subunits and the postsynaptic density protein PSD-95
-
Kornau, H.C., Schenker, L.T., Kennedy, M.B. and Seeburg, P.H. (1995) Domain interaction between NMDA receptor subunits and the postsynaptic density protein PSD-95. Science, 269, 1737-1740.
-
(1995)
Science
, vol.269
, pp. 1737-1740
-
-
Kornau, H.C.1
Schenker, L.T.2
Kennedy, M.B.3
Seeburg, P.H.4
|