-
1
-
-
0028626352
-
Marfan syndrome and other microfibrillar diseases
-
(eds Harris, H. & Hirschhorn, K., Plenum, New York
-
Dietz, H., Ramirez, F. & Sakai, L. Marfan syndrome and other microfibrillar diseases, in Advances in Human Genetics, vol. 22 (eds Harris, H. & Hirschhorn, K.) 153-186 (Plenum, New York, 1994).
-
(1994)
Advances in Human Genetics, Vol. 22
, pp. 153-186
-
-
Dietz, H.1
Ramirez, F.2
Sakai, L.3
-
2
-
-
0028852659
-
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
-
Dietz, H. & Pyeritz, R. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum. Mol. Genet. 4, 1799-1809 (1995).
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 1799-1809
-
-
Dietz, H.1
Pyeritz, R.2
-
3
-
-
0023002893
-
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
-
Sakai, L, Keene, D.R. & Engvall, E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol. 103, 2499-2509 (1986).
-
(1986)
J. Cell Biol
, vol.103
, pp. 2499-2509
-
-
Sakai, L.1
Keene, D.R.2
Engvall, E.3
-
4
-
-
0002553444
-
Elastic fiber structure and assembly
-
(eds Yurchenco, P.D., Birk, D.E. & Mecham, R.P., Academic Press, New York
-
Mecham, R.P. & Davis, E. Elastic fiber structure and assembly, in Extracellular Matrix Assembly and Structure (eds Yurchenco, P.D., Birk, D.E. & Mecham, R.P.) 281-314 (Academic Press, New York, 1994).
-
(1994)
Extracellular Matrix Assembly and Structure
, pp. 281-314
-
-
Mecham, R.P.1
Davis, E.2
-
5
-
-
0027313286
-
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
-
Pereira, L et al. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum. Mol. Genet. 2, 961-968 (1993).
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 961-968
-
-
Pereira, L.1
-
6
-
-
0028335388
-
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
-
Kainulainen, K., Karttunen, L, Puhakka, L, Sakai, L & Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nature Genet 6, 64-69 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 64-69
-
-
Kainulainen, K.1
Karttunen, L.2
Puhakka, L.3
Sakai, L.4
Peltonen, L.5
-
7
-
-
0029665565
-
Fibrillin mutations in Marfan syndrome and related phenotypes
-
Ramirez, F. Fibrillin mutations in Marfan syndrome and related phenotypes. Curr Opin. Genet. Dev. 6. 309-315(1996).
-
(1996)
Curr Opin. Genet. Dev
, vol.309-315
, pp. 6
-
-
Ramirez, F.1
-
8
-
-
0003799070
-
-
2nd ed. (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York
-
Hogan, B., Beddington, R„ Constantini, F. & Lacy, E. Manipulating the Mouse Embryo: A Laboratory Manual. 2nd ed. (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1994).
-
(1994)
Manipulating the Mouse Embryo: A Laboratory Manual
-
-
Hogan, B.1
Beddington, R.2
Constantini, F.3
Lacy, E.4
-
9
-
-
0028267099
-
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices
-
Zhang, H. et al. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J. Cell Biol. 124, 855-863 (1994).
-
(1994)
J. Cell Biol
, vol.124
, pp. 855-863
-
-
Zhang, H.1
-
10
-
-
0029091902
-
Targeted deletion of 5’ HS2 of the murine b-globin LCR reveals that it is not essential for proper regulation of the b-globin locus
-
Fiering, S. et al. Targeted deletion of 5’ HS2 of the murine b-globin LCR reveals that it is not essential for proper regulation of the b-globin locus. Genes Dev. 9, 2203-2213(1995).
-
(1995)
Genes Dev
, vol.2203-2213
, pp. 9
-
-
Fiering, S.1
-
11
-
-
0029847228
-
Long-range disruption of gene expression by a selectable marker cassette
-
Pham, C.T.N., Maclvor, D.M., Hug, B.A., Heusel, J.W. & Ley, T.J. Long-range disruption of gene expression by a selectable marker cassette. Proc. Natl. Acad. Sci. USA 93, 13090-13095(1996).
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 13090-13095
-
-
Pham, C.T.N.1
Maclvor, D.M.2
Hug, B.A.3
Heusel, J.W.4
Ley, T.J.5
-
12
-
-
0029023792
-
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils
-
Zhang, H., Hu, W. & Ramirez, F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J. Cell Biol. 123, 1165-1176(1995).
-
(1995)
J. Cell Biol
, vol.1165-1176
, pp. 123
-
-
Zhang, H.1
Hu, W.2
Ramirez, F.3
-
13
-
-
0027402602
-
Smooth muscle cell to elastic lamina connections in developing mouse aorta: Role in aortic medial organization. Lab
-
Davis, E.C. Smooth muscle cell to elastic lamina connections in developing mouse aorta: Role in aortic medial organization. Lab. Invest. 68, 89-97 (1993).
-
(1993)
Invest
, vol.68
, pp. 89-97
-
-
Davis, E.C.1
-
14
-
-
0025335330
-
Marfan syndrome: Immunohistologic abnormalities of the microfibrillar fiber system
-
Hollister, D.W., Godfrey, M., Sakai, L.Y. & Pyeritz, R.E. Marfan syndrome: Immunohistologic abnormalities of the microfibrillar fiber system. N. Engl. J. Med. 323, 935-939(1990).
-
(1990)
N. Engl. J. Med
, vol.935-939
, pp. 323
-
-
Hollister, D.W.1
Godfrey, M.2
Sakai, L.Y.3
Pyeritz, R.E.4
-
15
-
-
0001949194
-
Tensile strength and collagen in abdominal aortic aneurysm disease
-
(eds Greenhalgh, M. & Mannick, J.A., Latimer Trend, Plymouth UK
-
Tilson D.M., Elefteriades J. & Brophy CM. Tensile strength and collagen in abdominal aortic aneurysm disease, in The Cause and Management of Aneurysms (eds Greenhalgh, M. & Mannick, J.A.) 97-104 (Latimer Trend, Plymouth UK, 1990).
-
(1990)
The Cause and Management of Aneurysms
, pp. 97-104
-
-
Tilson, D.M.1
Elefteriades, J.2
Brophy, C.M.3
-
16
-
-
0028262484
-
Immunolocalization of microfibril and microfibril-associated proteins in the subendothelial matrix of the developing mouse aorta
-
Davis, E.C. Immunolocalization of microfibril and microfibril-associated proteins in the subendothelial matrix of the developing mouse aorta. J. Cell Sci. 107, 727-736 (1994).
-
(1994)
J. Cell Sci
, vol.107
, pp. 727-736
-
-
Davis, E.C.1
-
17
-
-
0028828221
-
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
-
Putnam, E.A, Zhang, H., Ramirez, F. & Milewicz, D.M. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genet 11, 456-458 (1995).
-
(1995)
Nature Genet
, vol.11
, pp. 456-458
-
-
Putnam, E.A.1
Zhang, H.2
Ramirez, F.3
Milewicz, D.M.4
-
18
-
-
0028294413
-
Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene
-
Ewart, A.K., Jin, W., Atkinson, D.L., Morris, C.A. & Keating M.T. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J. Clin. Invest 93, 1071-1077(1994).
-
(1994)
J. Clin. Invest
, vol.1071-1077
, pp. 93
-
-
Ewart, A.K.1
Jin, W.2
Atkinson, D.L.3
Morris, C.A.4
Keating, M.T.5
-
19
-
-
0026708177
-
Targeted mutation of the DNA methyltransferase gene results in embryonic lethality
-
Li, E., Bestor, T.H. & Jaenisch, R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Celt 63, 915-926 (1992).
-
(1992)
Celt
, vol.63
, pp. 915-926
-
-
Li, E.1
Bestor, T.H.2
Jaenisch, R.3
-
20
-
-
84966163623
-
Targeted mutation in the colSal gene reveals a regulatory role for type V collagen during matrix assembly
-
Andrikopoulos, K„ Liu, X., Keene, R.D., Jaenisch, R. & Ramirez, F. Targeted mutation in the colSal gene reveals a regulatory role for type V collagen during matrix assembly. Nature Genet. 9. 31-36 (1995).
-
(1995)
Nature Genet
, vol.9
, pp. 31-36
-
-
Andrikopoulos, K.1
Liu, X.2
Keene, R.D.3
Jaenisch, R.4
Ramirez, F.5
-
21
-
-
0003903343
-
-
Cold Spring Harbor, New York
-
Sambrook, E„ Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989).
-
(1989)
Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory
-
-
Sambrook, E.1
Fritsch, E.F.2
Maniatis, T.3
-
22
-
-
0002782789
-
Use of PCR to quantitate relative differences in gene expression
-
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York
-
Gause, W.C. & Adamovicz, J. Use of PCR to quantitate relative differences in gene expression, in PCR Primer: A Laboratory Manual(eds Dieffenbach, C.W. & Dveksler, G.S.) 293-338 (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989).
-
(1989)
PCR Primer: A Laboratory Manual(Eds Dieffenbach, C.W. & Dveksler, G.S.)
, pp. 293-338
-
-
Gause, W.C.1
Adamovicz, J.2
-
23
-
-
0029945989
-
Fibrillin 1: Organization in microfibrils and structural properties
-
Reinhardt, D.P. et al. Fibrillin 1: Organization in microfibrils and structural properties. J. Mol. Biol. 258, 104-115(1996).
-
(1996)
J. Mol. Biol
, vol.104-115
, pp. 258
-
-
Reinhardt, D.P.1
-
24
-
-
84984778058
-
Fibrillin-1 in human cartilage: Developmental expression and formation of special banded fibrils
-
(in the press)
-
Keene, D.R. et al. Fibrillin-1 in human cartilage: Developmental expression and formation of special banded fibrils. J. Histochem. Cytochem. (in the press).
-
J. Histochem. Cytochem
-
-
Keene, D.R.1
-
25
-
-
0028058924
-
Elastin exhibits a distinctive temporal and spatial pattern of distribution in the developing chick limb in association with the establishment of the cartilaginous skeleton
-
Hurle, J.M. et al. Elastin exhibits a distinctive temporal and spatial pattern of distribution in the developing chick limb in association with the establishment of the cartilaginous skeleton J. Cell Sci. 107, 2623-2634 (1994).
-
(1994)
J. Cell Sci
, vol.107
, pp. 2623-2634
-
-
Hurle, J.M.1
-
26
-
-
0026315446
-
Purification and partial characterization of fibrillin, a cystine-rich structural component of connective tissue microfibrils
-
Sakai, L.Y., Keene, D.R., Glanville, R.A. & Bachinger, H.P. Purification and partial characterization of fibrillin, a cystine-rich structural component of connective tissue microfibrils. J. Biol. Chem. 266, 14763-14770 (1991).
-
(1991)
J. Biol. Chem
, vol.266
, pp. 14763-14770
-
-
Sakai, L.Y.1
Keene, D.R.2
Glanville, R.A.3
Bachinger, H.P.4
-
27
-
-
0028929503
-
Fibrillin: Monomers and microfibrils
-
Sakai, L.Y. & Keene, D.R. Fibrillin: Monomers and microfibrils. Methods Enzymol. 245, 29-52(1994).
-
(1994)
Methods Enzymol
, vol.29-52
, pp. 245
-
-
Sakai, L.Y.1
Keene, D.R.2
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