-
1
-
-
0028171579
-
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51.
-
(1994)
Nat 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
-
2
-
-
0030050973
-
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
-
Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteus ME, Marchuk DA. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-95.
-
(1996)
Nat 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
Guttmacher, A.E.11
Jackson, C.E.12
Attisano, L.13
Kucherlapati, R.14
Porteus, M.E.15
Marchuk, D.A.16
-
3
-
-
0027525105
-
Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors
-
Attisano L, Carcamo J, Ventura F, Weis FM, Massague J, Wrana JL. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell 1993;75:671-80.
-
(1993)
Cell
, vol.75
, pp. 671-680
-
-
Attisano, L.1
Carcamo, J.2
Ventura, F.3
Weis, F.M.4
Massague, J.5
Wrana, J.L.6
-
4
-
-
0033534572
-
Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily
-
Pece-Barbara N, Wrana JL, Letarte M. Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily. J Biol Chem 1999;274:584-94.
-
(1999)
J Biol Chem
, vol.274
, pp. 584-594
-
-
Pece-Barbara, N.1
Wrana, J.L.2
Letarte, M.3
-
5
-
-
0033817459
-
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
-
The International PPH Consortium
-
International PPH Consortium: Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA, Loyd JE, Nichols WC, Trembath RC. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet 2000;26:81-4.
-
(2000)
Nat Genet
, vol.26
, pp. 81-84
-
-
Lane, K.B.1
Machado, R.D.2
Pauciulo, M.W.3
Thomson, J.R.4
Phillips, J.A.5
Loyd, J.E.6
Nichols, W.C.7
Trembath, R.C.8
-
6
-
-
0033838125
-
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene
-
Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, Kalachikiv S, Cayanis E, Fischer SG, Barst RJ, Hodge SE, Knowles JA. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000;67:737-44.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 737-744
-
-
Deng, Z.1
Morse, J.H.2
Slager, S.L.3
Cuervo, N.4
Moore, K.J.5
Venetos, G.6
Kalachikiv, S.7
Cayanis, E.8
Fischer, S.G.9
Barst, R.J.10
Hodge, S.E.11
Knowles, J.A.12
-
7
-
-
0033623296
-
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
-
Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K, Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, Egan J, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet 2000;37:741-5.
-
(2000)
J Med Genet
, vol.37
, pp. 741-745
-
-
Thomson, J.R.1
Machado, R.D.2
Pauciulo, M.W.3
Morgan, N.V.4
Humbert, M.5
Elliott, G.C.6
Ward, K.7
Yacoub, M.8
Mikhail, G.9
Rogers, P.10
Newman, J.11
Wheeler, L.12
Higenbottam, T.13
Gibbs, J.S.14
Egan, J.15
Crozier, A.16
Peacock, A.17
Allcock, R.18
Corris, P.19
Loyd, J.E.20
Trembath, R.C.21
Nichols, W.C.22
more..
-
8
-
-
18544376034
-
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives
-
Humbert M, Deng Z, Simonneau G, Barst RJ, Sitbon O, Wolf M, Cuervo N, Moore KJ, Hodge SE, Knowles JA, Morse JH. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Resp J 2002;20:518-23.
-
(2002)
Eur Resp J
, vol.20
, pp. 518-523
-
-
Humbert, M.1
Deng, Z.2
Simonneau, G.3
Barst, R.J.4
Sitbon, O.5
Wolf, M.6
Cuervo, N.7
Moore, K.J.8
Hodge, S.E.9
Knowles, J.A.10
Morse, J.H.11
-
9
-
-
0038682002
-
Mechanisms of TGF-beta signaling from cell membrane to the nucleus
-
Shi Y, Massague J. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Cell 2003;113:685-700.
-
(2003)
Cell
, vol.113
, pp. 685-700
-
-
Shi, Y.1
Massague, J.2
-
10
-
-
0035797556
-
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
-
Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciolo M, Wheeler L. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2001;345:325-34.
-
(2001)
N Engl J Med
, vol.345
, pp. 325-334
-
-
Trembath, R.C.1
Thomson, J.R.2
Machado, R.D.3
Morgan, N.V.4
Atkinson, C.5
Winship, I.6
Simonneau, G.7
Galie, N.8
Loyd, J.E.9
Humbert, M.10
Nichols, W.C.11
Morrell, N.W.12
Berg, J.13
Manes, A.14
McGaughran, J.15
Pauciolo, M.16
Wheeler, L.17
-
11
-
-
0034007163
-
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)
-
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann O, Kjeldsen AD, Plauch H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-7.
-
(2000)
Am J Med Genet
, vol.91
, pp. 66-67
-
-
Shovlin, C.L.1
Guttmacher, A.E.2
Buscarini, E.3
Faughnan, M.E.4
Hyland, R.H.5
Westermann, O.6
Kjeldsen, A.D.7
Plauch, H.8
-
12
-
-
0034194584
-
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2
-
Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum Mol Genet 2000;9:1227-37.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1227-1237
-
-
Abdalla, S.A.1
Pece-Barbara, N.2
Vera, S.3
Tapia, E.4
Paez, E.5
Bernabeu, C.6
Letarte, M.7
-
13
-
-
0030813490
-
The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
-
Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteus ME, Marchuk DA. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 1997;61:60-7.
-
(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
Porteus, M.E.8
Marchuk, D.A.9
-
14
-
-
0038364150
-
Disease-associated mutations in conserved residues of ALK-1 kinase domain
-
Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M. Disease-associated mutations in conserved residues of ALK-1 kinase domain. Eur J Hum Genet 2003;11:279-87.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 279-287
-
-
Abdalla, S.A.1
Cymerman, U.2
Johnson, R.M.3
Deber, C.M.4
Letarte, M.5
-
15
-
-
0035253793
-
Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families
-
Kjeldsen AD, Brusgaard K, Poulson L, Kruse T, Rasmussen K, Green A, Vase P. Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am J Med Genet 2001;98:298-302.
-
(2001)
Am J Med Genet
, vol.98
, pp. 298-302
-
-
Kjeldsen, A.D.1
Brusgaard, K.2
Poulson, L.3
Kruse, T.4
Rasmussen, K.5
Green, A.6
Vase, P.7
-
16
-
-
0035695977
-
Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation
-
Lin WD, Wu JY, Hsu HB, Tsai FJ, Lee CC, Tsai CH. Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation. J Formos Med Assoc 2001;100:817-19.
-
(2001)
J Formos Med Assoc
, vol.100
, pp. 817-819
-
-
Lin, W.D.1
Wu, J.Y.2
Hsu, H.B.3
Tsai, F.J.4
Lee, C.C.5
Tsai, C.H.6
-
17
-
-
18744432185
-
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online
-
Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A, Johnson DW, Marchuk DA. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. Hum Mutat 1998;12:137.
-
(1998)
Hum Mutat
, vol.12
, pp. 137
-
-
Klaus, D.J.1
Gallione, C.J.2
Anthony, K.3
Yeh, E.Y.4
Yu, J.5
Lux, A.6
Johnson, D.W.7
Marchuk, D.A.8
-
18
-
-
0034648503
-
Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred
-
McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. Am J Med Genet 2000;93:320-7.
-
(2000)
Am J Med Genet
, vol.93
, pp. 320-327
-
-
McDonald, J.E.1
Miller, F.J.2
Hallam, S.E.3
Nelson, L.4
Marchuk, D.A.5
Ward, K.J.6
-
19
-
-
0036634625
-
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
-
Olivieri C, Mira E, Delu G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 2002;39:E39.
-
(2002)
J Med Genet
, vol.39
-
-
Olivieri, C.1
Mira, E.2
Delu, G.3
Pagella, F.4
Zambelli, A.5
Malvezzi, L.6
Buscarini, E.7
Danesino, C.8
-
20
-
-
0014565337
-
Pulmonary hypertension in patients with pulmonary arteriovenous fistulae
-
Sapru RP, Hutchinson DC, Hall JI. Pulmonary hypertension in patients with pulmonary arteriovenous fistulae. Br Heart J 1969;31:559-69.
-
(1969)
Br Heart J
, vol.31
, pp. 559-569
-
-
Sapru, R.P.1
Hutchinson, D.C.2
Hall, J.I.3
-
21
-
-
0037401059
-
Hereditary hemorrhagic telangiectasia: An update on transforming growth factor beta signaling in vasculogenesis and angiogenesis
-
van den Driesche S, Mummery CL, Westermann CJ. Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc Res 2003;58:20-31.
-
(2003)
Cardiovasc Res
, vol.58
, pp. 20-31
-
-
Van Den Driesche, S.1
Mummery, C.L.2
Westermann, C.J.3
-
22
-
-
0035166785
-
Transforming growth factor beta receptor signaling and endocytosis are linked through a CCOH terminal activation motif in the type I receptor
-
Garamszegi N, Dore JJ, Penheiter SG, Edens M, Yao D, Leof EB. Transforming growth factor beta receptor signaling and endocytosis are linked through a CCOH terminal activation motif in the type I receptor. Mol Biol Cell 2001;12:2881-93.
-
(2001)
Mol Biol Cell
, vol.12
, pp. 2881-2893
-
-
Garamszegi, N.1
Dore, J.J.2
Penheiter, S.G.3
Edens, M.4
Yao, D.5
Leof, E.B.6
-
23
-
-
0033524943
-
Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12
-
Huse M, Chen YG, Massague J, Kuriyan J. Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12. Cell 1999;96:425-36.
-
(1999)
Cell
, vol.96
, pp. 425-436
-
-
Huse, M.1
Chen, Y.G.2
Massague, J.3
Kuriyan, J.4
-
24
-
-
0034796457
-
The TGF beta receptor activation process: An inhibitor- to substrate-binding switch
-
Huse M, Muir TW, Xu L, Chen YG, Kuriyan J, Massague J. The TGF beta receptor activation process: an inhibitor- to substrate-binding switch. Mol Cell 2001;8:671-82.
-
(2001)
Mol Cell
, vol.8
, pp. 671-682
-
-
Huse, M.1
Muir, T.W.2
Xu, L.3
Chen, Y.G.4
Kuriyan, J.5
Massague, J.6
-
25
-
-
85088715425
-
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension
-
Rudarankanchana N, Flanagan JA, Chen H, Utpon PD, Machado RD, Patel D, Trembath RC, Morrell NW. Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. Hum Mol Genet 2002;11:1-9.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1-9
-
-
Rudarankanchana, N.1
Flanagan, J.A.2
Chen, H.3
Utpon, P.D.4
Machado, R.D.5
Patel, D.6
Trembath, R.C.7
Morrell, N.W.8
-
26
-
-
0026683949
-
Hereditary haemorrhagic telangiectasia: A clinical analysis
-
Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992;29:527-30.
-
(1992)
J Med Genet
, vol.29
, pp. 527-530
-
-
Porteous, M.E.1
Burn, J.2
Proctor, S.J.3
-
27
-
-
0037488236
-
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
-
Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan ME, Letarte M. Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet 2003;40:494-502.
-
(2003)
J Med Genet
, vol.40
, pp. 494-502
-
-
Abdalla, S.A.1
Geisthoff, U.W.2
Bonneau, D.3
Plauchu, H.4
McDonald, J.5
Kennedy, S.6
Faughnan, M.E.7
Letarte, M.8
-
28
-
-
0021288730
-
Familial primary pulmonary hypertension: Clinical patterns
-
Loyd JE, Primm RK, Newman JH. Familial primary pulmonary hypertension: clinical patterns. Am Rev Respir Dis 1984;129:194-7.
-
(1984)
Am Rev Respir Dis
, vol.129
, pp. 194-197
-
-
Loyd, J.E.1
Primm, R.K.2
Newman, J.H.3
-
30
-
-
0142027776
-
Mutations in bone morphogenic protein receptor 1B cause brachydactyly type A2
-
Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik K, Müller A, Knaus P, Nürnberg P, Mundlos S. Mutations in bone morphogenic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci USA 2003;100:12277-82.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 12277-12282
-
-
Lehmann, K.1
Seemann, P.2
Stricker, S.3
Sammar, M.4
Meyer, B.5
Süring, K.6
Majewski, F.7
Tinschert, S.8
Grzeschik, K.9
Müller, A.10
Knaus, P.11
Nürnberg, P.12
Mundlos, S.13
|