-
1
-
-
0000167774
-
Disorders of transsulfuration
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle 8th edit. McGraw-Hill New York
-
S.H. Mudd, H.L. Levy, and J.P. Kraus Disorders of transsulfuration C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Disease 8th edit. 2001 McGraw-Hill New York 2001 2056
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2001-2056
-
-
Mudd, S.H.1
Levy, H.L.2
Kraus, J.P.3
-
2
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
-
H.C. Dietz, G.R. Cutting, R.E. Pyeritz, C.L. Maslen, L.Y. Sakai, and G.M. Corson Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Nature 352 1991 337 339
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
Corson, G.M.6
-
3
-
-
0034050792
-
The Marfan syndrome
-
R.E. Pyeritz The Marfan syndrome Annu. Rev. Med. 51 2000 481 510
-
(2000)
Annu. Rev. Med.
, vol.51
, pp. 481-510
-
-
Pyeritz, R.E.1
-
4
-
-
0023002893
-
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
-
L.Y. Sakai, D.R. Keene, and E. Engvall Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils J. Cell Biol. 103 1986 2499 2509
-
(1986)
J. Cell Biol.
, vol.103
, pp. 2499-2509
-
-
Sakai, L.Y.1
Keene, D.R.2
Engvall, E.3
-
5
-
-
0027257818
-
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end
-
G.M. Corson, S.C. Chalberg, H.C. Dietz, N.L. Charbonneau, and L.Y. Sakai Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end Genomics 17 1993 476 484
-
(1993)
Genomics
, vol.17
, pp. 476-484
-
-
Corson, G.M.1
Chalberg, S.C.2
Dietz, H.C.3
Charbonneau, N.L.4
Sakai, L.Y.5
-
6
-
-
0027672469
-
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
-
L. Pereira, M. Dalessio, F. Ramirez, J.R. Lynch, B. Sykes, T. Pangilinan, and J. Bonadio Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome Hum. Mol. Genet. 2 1993 961 968
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 961-968
-
-
Pereira, L.1
Dalessio, M.2
Ramirez, F.3
Lynch, J.R.4
Sykes, B.5
Pangilinan, T.6
Bonadio, J.7
-
7
-
-
0030000090
-
Solution structure of a pair of calcium binding epidermal growth factor-like domains: Implications for the Marfan syndrome and other genetic disorders
-
A.K. Downing, V. Knott, J.M. Werner, C.M. Cardy, I.D. Campbell, and P.A. Handford Solution structure of a pair of calcium binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders Cell 85 1996 597 605
-
(1996)
Cell
, vol.85
, pp. 597-605
-
-
Downing, A.K.1
Knott, V.2
Werner, J.M.3
Cardy, C.M.4
Campbell, I.D.5
Handford, P.A.6
-
8
-
-
1842450279
-
Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization
-
S.S. Lee, V. Knott, J. Jovanovic, K. Harlos, J.M. Grimes, and L. Choulier Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization Structure 12 2004 717 729
-
(2004)
Structure
, vol.12
, pp. 717-729
-
-
Lee, S.S.1
Knott, V.2
Jovanovic, J.3
Harlos, K.4
Grimes, J.M.5
Choulier, L.6
-
9
-
-
0030781430
-
Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils
-
X.M. Yuan, A.K. Downing, V. Knott, and P.A. Handford Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils EMBO J. 16 1997 6659 6666
-
(1997)
EMBO J.
, vol.16
, pp. 6659-6666
-
-
Yuan, X.M.1
Downing, A.K.2
Knott, V.3
Handford, P.A.4
-
10
-
-
0012955959
-
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1
-
R.S. Smallridge, P. Whiteman, J.M. Werner, I.D. Campbell, P.A. Handford, and A.K. Downing Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1 J. Biol. Chem. 278 2003 12199 12206
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 12199-12206
-
-
Smallridge, R.S.1
Whiteman, P.2
Werner, J.M.3
Campbell, I.D.4
Handford, P.A.5
Downing, A.K.6
-
11
-
-
0034641591
-
Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context
-
A.J. McGettrick, V. Knott, A. Willis, and P.A. Handford Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context Hum. Mol. Genet. 9 2000 1987 1994
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1987-1994
-
-
McGettrick, A.J.1
Knott, V.2
Willis, A.3
Handford, P.A.4
-
12
-
-
0031002467
-
Calcium stabilises fibrillin-1 against proteolytic degradation
-
D.P. Reinhardt, R.N. Ono, and L.Y. Sakai Calcium stabilises fibrillin-1 against proteolytic degradation J. Biol. Chem. 272 1997 7368 7373
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 7368-7373
-
-
Reinhardt, D.P.1
Ono, R.N.2
Sakai, L.Y.3
-
14
-
-
0021894152
-
The natural history of homocystinuria due to cystathionine beta-synthase deficiency
-
S.H. Mudd, F. Skovby, H.L. Levy, K.D. Pettigrew, B. Wilcken, and R.E. Pyeritz The natural history of homocystinuria due to cystathionine beta-synthase deficiency Am. J. Hum. Genet. 37 1985 1 31
-
(1985)
Am. J. Hum. Genet.
, vol.37
, pp. 1-31
-
-
Mudd, S.H.1
Skovby, F.2
Levy, H.L.3
Pettigrew, K.D.4
Wilcken, B.5
Pyeritz, R.E.6
-
16
-
-
0027293835
-
Total homocysteine in plasma or serum: Methods and clinical applications
-
P.M. Ueland, H. Refsum, S.P. Stabler, M.R. Malinow, A. Andersson, and R.H. Allen Total homocysteine in plasma or serum: methods and clinical applications Clin. Chem. 39 1993 1764 1779
-
(1993)
Clin. Chem.
, vol.39
, pp. 1764-1779
-
-
Ueland, P.M.1
Refsum, H.2
Stabler, S.P.3
Malinow, M.R.4
Andersson, A.5
Allen, R.H.6
-
17
-
-
0034697304
-
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome
-
D.P. Reinhardt, R.N. Ono, H. Notbohm, P.K. Muller, H.P. Bachinger, and L.Y. Sakai Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome J. Biol. Chem. 275 2000 12339 12345
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 12339-12345
-
-
Reinhardt, D.P.1
Ono, R.N.2
Notbohm, H.3
Muller, P.K.4
Bachinger, H.P.5
Sakai, L.Y.6
-
18
-
-
0027738563
-
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome
-
T. Aoyama, K. Tynan, H.C. Dietz, U. Francke, and H. Furthmayr Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome Hum. Mol. Genet. 2 1993 2135 2140
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2135-2140
-
-
Aoyama, T.1
Tynan, K.2
Dietz, H.C.3
Francke, U.4
Furthmayr, H.5
-
19
-
-
0033401673
-
Molecular analysis of eight mutations in FBN1
-
D. Halliday, S. Hutchinson, S. Kettle, H. Firth, B.P. Wordsworth, and P.A. Handford Molecular analysis of eight mutations in FBN1 Hum. Genet. 105 1999 587 597
-
(1999)
Hum. Genet.
, vol.105
, pp. 587-597
-
-
Halliday, D.1
Hutchinson, S.2
Kettle, S.3
Firth, H.4
Wordsworth, B.P.5
Handford, P.A.6
-
20
-
-
0023845397
-
Interrelations between plasma free and protein-bound homocysteine and cysteine in homocystinuria
-
V.C. Wiley, N.P.B. Dudman, and D.E.L. Wilcken Interrelations between plasma free and protein-bound homocysteine and cysteine in homocystinuria Metabolism 37 1988 191 195
-
(1988)
Metabolism
, vol.37
, pp. 191-195
-
-
Wiley, V.C.1
Dudman, N.P.B.2
Wilcken, D.E.L.3
-
21
-
-
0027424495
-
Redox status and protein binding of plasma homocysteine and other aminothiols in patients with homocystinuria
-
M.A. Mansoor, P.M. Ueland, A. Aarsland, and A.M. Svardal Redox status and protein binding of plasma homocysteine and other aminothiols in patients with homocystinuria Metabolism 42 1993 1481 1485
-
(1993)
Metabolism
, vol.42
, pp. 1481-1485
-
-
Mansoor, M.A.1
Ueland, P.M.2
Aarsland, A.3
Svardal, A.M.4
-
23
-
-
0033593368
-
Defective calcium binding to fibrillin-1: Consequence of an N2144S change for fibrillin-1 structure and function
-
S. Kettle, X. Yuan, G. Grundy, V. Knott, A.K. Downing, and P.A. Handford Defective calcium binding to fibrillin-1: consequence of an N2144S change for fibrillin-1 structure and function J. Mol. Biol. 285 1999 1277 1287
-
(1999)
J. Mol. Biol.
, vol.285
, pp. 1277-1287
-
-
Kettle, S.1
Yuan, X.2
Grundy, G.3
Knott, V.4
Downing, A.K.5
Handford, P.A.6
-
24
-
-
10944263184
-
Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1
-
J.Y. Suk, S.A. Jensen, A.J. McGettrick, A.C. Willis, P. Whiteman, C. Redfield, and P.A. Handford Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1 J. Biol. Chem. 279 2004 51258 51265
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 51258-51265
-
-
Suk, J.Y.1
Jensen, S.A.2
McGettrick, A.J.3
Willis, A.C.4
Whiteman, P.5
Redfield, C.6
Handford, P.A.7
-
25
-
-
16044362074
-
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
-
A. Joutel, C. Corpechot, A. Ducros, K. Vahedi, H. Chabriat, and P. Mouton Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Nature 383 1996 707 710
-
(1996)
Nature
, vol.383
, pp. 707-710
-
-
Joutel, A.1
Corpechot, C.2
Ducros, A.3
Vahedi, K.4
Chabriat, H.5
Mouton, P.6
-
26
-
-
0031590602
-
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
-
A. Joutel, K. Vahedi, C. Corpechot, A. Troesch, H. Chabriat, and C. Vayssiere Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients Lancet 350 1997 1511 1515
-
(1997)
Lancet
, vol.350
, pp. 1511-1515
-
-
Joutel, A.1
Vahedi, K.2
Corpechot, C.3
Troesch, A.4
Chabriat, H.5
Vayssiere, C.6
-
29
-
-
0033795252
-
A deficiency of cysteine impairs fibrillin-1 deposition: Implications for the pathogenesis of cystathionine β-synthase deficiency
-
A.K. Majors, and R.E. Pyeritz A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine β-synthase deficiency Mol. Genet. Metab. 70 2000 252 260
-
(2000)
Mol. Genet. Metab.
, vol.70
, pp. 252-260
-
-
Majors, A.K.1
Pyeritz, R.E.2
-
30
-
-
0029977996
-
Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1
-
V. Knott, A.K. Downing, C.M. Cardy, and P. Handford Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1 J. Mol. Biol. 255 1996 22 27
-
(1996)
J. Mol. Biol.
, vol.255
, pp. 22-27
-
-
Knott, V.1
Downing, A.K.2
Cardy, C.M.3
Handford, P.4
-
31
-
-
0035907256
-
A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects
-
P. Whiteman, R.S. Smallridge, V. Knott, J.J. Cordle, A.K. Downing, and P.A. Handford A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects J. Biol. Chem. 276 2001 17156 17162
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 17156-17162
-
-
Whiteman, P.1
Smallridge, R.S.2
Knott, V.3
Cordle, J.J.4
Downing, A.K.5
Handford, P.A.6
-
32
-
-
0026585419
-
Marfan syndrome: Defective synthesis, secretion and extracellular matrix formation of fibrillin by cultured dermal fibroblasts
-
D.M. Milewicz, R.E. Pyeritz, E.S. Crawford, and P.H. Byers Marfan syndrome: defective synthesis, secretion and extracellular matrix formation of fibrillin by cultured dermal fibroblasts J. Clin. Invest. 89 1992 79 86
-
(1992)
J. Clin. Invest.
, vol.89
, pp. 79-86
-
-
Milewicz, D.M.1
Pyeritz, R.E.2
Crawford, E.S.3
Byers, P.H.4
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