-
1
-
-
0029006974
-
Collagens: Molecular biology, diseases, and potentials for therapy
-
Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy. Ann Rev Biochem 1995;64:403-34.
-
(1995)
Ann Rev Biochem
, vol.64
, pp. 403-434
-
-
Prockop, D.J.1
Kivirikko, K.I.2
-
2
-
-
0021996663
-
Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta
-
Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem 1985;260:1734-42.
-
(1985)
J Biol Chem
, vol.260
, pp. 1734-1742
-
-
Bonadio, J.1
Holbrook, K.A.2
Gelinas, R.E.3
Jacob, J.4
Byers, P.H.5
-
5
-
-
0026342914
-
Purification and functional characterization of a DNA-binding protein that interacts with a negative element in the mouse α1 (I) collagen promoter
-
Karsenty G, Ravazzolo R, de Crombrugghe B. Purification and functional characterization of a DNA-binding protein that interacts with a negative element in the mouse α1 (I) collagen promoter. J Biol Chem 1991;266:24842-8.
-
(1991)
J Biol Chem
, vol.266
, pp. 24842-24848
-
-
Karsenty, G.1
Ravazzolo, R.2
De Crombrugghe, B.3
-
6
-
-
0026642608
-
Purification of BBF, a DNA-binding protein recognizing a positive cis-acting element in the mouse α1 (III) promoter
-
Routeshouser EC, de Crombrugghe B. Purification of BBF, a DNA-binding protein recognizing a positive cis-acting element in the mouse α1 (III) promoter. J Biol Chem 1992;267:14398-404.
-
(1992)
J Biol Chem
, vol.267
, pp. 14398-14404
-
-
Routeshouser, E.C.1
De Crombrugghe, B.2
-
7
-
-
0026641489
-
Three different polypeptides are necessary for DNA binding of the mammalian heteromeric CCAAT binding factor
-
Maity SN, Sinha S, Routeshouser EC, de Crombrugghe B. Three different polypeptides are necessary for DNA binding of the mammalian heteromeric CCAAT binding factor. J Biol Chem 1992;267:16574-80.
-
(1992)
J Biol Chem
, vol.267
, pp. 16574-16580
-
-
Maity, S.N.1
Sinha, S.2
Routeshouser, E.C.3
De Crombrugghe, B.4
-
8
-
-
0026779416
-
Tissue-specific expression of the mouse α2 (I) collagen promoter
-
Goldberg H, Helaakoski T, Garrett LA, Karsenty G, Pellegrino A, Lozano G, Maity S, de Crombrugghe B. Tissue-specific expression of the mouse α2 (I) collagen promoter. J Biol Chem 1992;267:19622-30.
-
(1992)
J Biol Chem
, vol.267
, pp. 19622-19630
-
-
Goldberg, H.1
Helaakoski, T.2
Garrett, L.A.3
Karsenty, G.4
Pellegrino, A.5
Lozano, G.6
Maity, S.7
De Crombrugghe, B.8
-
10
-
-
0002579327
-
Post-translational modifications
-
Weiss JB, Jayson MIV, editors. Edinburgh: Churchill Livingstone
-
Kivirikko KI, Myllyla R. Post-translational modifications. In: Weiss JB, Jayson MIV, editors. Collagen in health and disease. Edinburgh: Churchill Livingstone, 1982:101-20.
-
(1982)
Collagen in Health and Disease
, pp. 101-120
-
-
Kivirikko, K.I.1
Myllyla, R.2
-
11
-
-
0018750541
-
The biosynthesis of collagen and its disorders
-
Prockop DJ, Kivirikko KI, Tuderman L, Guzman NA. The biosynthesis of collagen and its disorders. N Engl J Med 1979;301: 13-23,77-85.
-
(1979)
N Engl J Med
, vol.301
, pp. 13-23
-
-
Prockop, D.J.1
Kivirikko, K.I.2
Tuderman, L.3
Guzman, N.A.4
-
12
-
-
18144375243
-
Extracellular modification of connective tissue proteins
-
Freedman RB, Hawkins HC, editors. London: Academic Press
-
Heathcote JC, Grant ME. Extracellular modification of connective tissue proteins. In: Freedman RB, Hawkins HC, editors. The enzymology of post-translational modifications of proteins. London: Academic Press, 1980:457-506.
-
(1980)
The Enzymology of Post-translational Modifications of Proteins
, pp. 457-506
-
-
Heathcote, J.C.1
Grant, M.E.2
-
13
-
-
0002786470
-
Intracellular steps in the biosynthesis of collagen
-
Ramachadran GN, Reddi AH, editors. New York: Plenum Press
-
Prockop DJ, Berg RA, Kivirikko KI. Intracellular steps in the biosynthesis of collagen. In: Ramachadran GN, Reddi AH, editors. Biochemistry of collagen. New York: Plenum Press, 1976: 163-273.
-
(1976)
Biochemistry of Collagen
, pp. 163-273
-
-
Prockop, D.J.1
Berg, R.A.2
Kivirikko, K.I.3
-
14
-
-
0020010503
-
Post-translational enzymes in the biosynthesis of collagen
-
Kivirikko KI, Myllyla R. Post-translational enzymes in the biosynthesis of collagen. Meth Enzymol 1982;82A:245-304.
-
(1982)
Meth Enzymol
, vol.82 A
, pp. 245-304
-
-
Kivirikko, K.I.1
Myllyla, R.2
-
15
-
-
0021638244
-
Osteogenesis imperfecta: Phenotypic heterogeneity, protein suicide, short and long collagen
-
Prockop DJ, Kivirikko KI, Tuderman L, Guzman NA. Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen. Am J Hum Genet 1984;36:499-505.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 499-505
-
-
Prockop, D.J.1
Kivirikko, K.I.2
Tuderman, L.3
Guzman, N.A.4
-
16
-
-
0027745820
-
Mutations in type I procollagen that cause osteogenesis imperfecta: Effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies
-
Prockop DJ, Colige A, Helminen H, Khillan JS, Pereira R, Vandenberg P. Mutations in type I procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies. J Bone Miner Res 1993;8(Suppl 2):S489-92.
-
(1993)
J Bone Miner Res
, vol.8
, Issue.2 SUPPL.
-
-
Prockop, D.J.1
Colige, A.2
Helminen, H.3
Khillan, J.S.4
Pereira, R.5
Vandenberg, P.6
-
17
-
-
0028206192
-
Molecular basis of osteogenesis imperfecta and related disorders of bone
-
Prockop DJ, Kuivaniemi H, Tromp G. Molecular basis of osteogenesis imperfecta and related disorders of bone. Clin Plast Surg 1994;21:407-13.
-
(1994)
Clin Plast Surg
, vol.21
, pp. 407-413
-
-
Prockop, D.J.1
Kuivaniemi, H.2
Tromp, G.3
-
18
-
-
0018416379
-
Genetic heterogeneity in osteogenesis imperfecta
-
Sillence DO, Senn A, Damks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.
-
(1979)
J Med Genet
, vol.16
, pp. 101-116
-
-
Sillence, D.O.1
Senn, A.2
Damks, D.M.3
-
19
-
-
0017874914
-
Classification of osteogenesis imperfecta by dental characteristics
-
Levin LS, Salinas CF, Jorgenson RJ. Classification of osteogenesis imperfecta by dental characteristics. Lancet 1978;1:332-3.
-
(1978)
Lancet
, vol.1
, pp. 332-333
-
-
Levin, L.S.1
Salinas, C.F.2
Jorgenson, R.J.3
-
20
-
-
18144368927
-
Osteogenesis imperfecta: An update
-
Byers PH, Osteogenesis imperfecta: an update. Growth Genet Hormones 1988;4:1-5.
-
(1988)
Growth Genet Hormones
, vol.4
, pp. 1-5
-
-
Byers, P.H.1
-
21
-
-
0024336576
-
Osteogenesis imperfecta type IV: Detection of a point mutation in one α1(I) collagen allele(COL1A1) by RNA/RNA hybrid analysis
-
Marini JC, Grange DK, Gottesman GS, Lewis MB, Koeplin DA. Osteogenesis imperfecta type IV: detection of a point mutation in one α1(I) collagen allele(COL1A1) by RNA/RNA hybrid analysis. J Biol Chem 1989;264:11893-900.
-
(1989)
J Biol Chem
, vol.264
, pp. 11893-11900
-
-
Marini, J.C.1
Grange, D.K.2
Gottesman, G.S.3
Lewis, M.B.4
Koeplin, D.A.5
-
22
-
-
0023674121
-
Osteogenesis imperfecta: Comprehensive management
-
Marini JC. Osteogenesis imperfecta: comprehensive management. Adv Ped 1988;35:391-426.
-
(1988)
Adv Ped
, vol.35
, pp. 391-426
-
-
Marini, J.C.1
-
23
-
-
0015805602
-
Abdominal aortic aneurysmectomy in a 17 year old patient with Ehlers-Danlos syndrome: Case report and review of the literature
-
Burnett HF, Bledsoe JH, Char FC. Abdominal aortic aneurysmectomy in a 17 year old patient with Ehlers-Danlos syndrome: case report and review of the literature. Surgery 1973;74: 617-20.
-
(1973)
Surgery
, vol.74
, pp. 617-620
-
-
Burnett, H.F.1
Bledsoe, J.H.2
Char, F.C.3
-
24
-
-
1542790983
-
Functional and ultrastructural abnormalities of platelets in Ehrlers-Danlos syndrome
-
Kashiwagi H, Riddle JM, Abraham JP. Functional and ultrastructural abnormalities of platelets in Ehrlers-Danlos syndrome. Ann Int Med 1965;63:249-54.
-
(1965)
Ann Int Med
, vol.63
, pp. 249-254
-
-
Kashiwagi, H.1
Riddle, J.M.2
Abraham, J.P.3
-
25
-
-
0018845056
-
Multiple surgical problems in two patients with Ehlers-Danlos syndrome
-
Wesley JR, Mahour GH, Woolley MM. Multiple surgical problems in two patients with Ehlers-Danlos syndrome. Surgery 1980;87:319-24.
-
(1980)
Surgery
, vol.87
, pp. 319-324
-
-
Wesley, J.R.1
Mahour, G.H.2
Woolley, M.M.3
-
26
-
-
0016121374
-
Multiple forms of Ehlers Danlos syndrome
-
McKusick VA. Multiple forms of Ehlers Danlos syndrome. Arch Surg 1974;109:475-6.
-
(1974)
Arch Surg
, vol.109
, pp. 475-476
-
-
McKusick, V.A.1
-
27
-
-
0025912424
-
The defect in Marfan syndrome
-
McKusick VA. The defect in Marfan syndrome. Nature 1991;353: 279-81.
-
(1991)
Nature
, vol.353
, pp. 279-281
-
-
McKusick, V.A.1
-
28
-
-
0025900544
-
Linkage of Marfan syndrome and a phenotypically related disorder of two different fibrillin genes
-
Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Isicouras P, Ramirez F, Hollister DW. Linkage of Marfan syndrome and a phenotypically related disorder of two different fibrillin genes. Nature 1991;353:330-4.
-
(1991)
Nature
, vol.353
, pp. 330-334
-
-
Lee, B.1
Godfrey, M.2
Vitale, E.3
Hori, H.4
Mattei, M.G.5
Sarfarazi, M.6
Isicouras, P.7
Ramirez, F.8
Hollister, D.W.9
-
29
-
-
0026020269
-
The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3
-
Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 1991;9: 355-61.
-
(1991)
Genomics
, vol.9
, pp. 355-361
-
-
Dietz, H.C.1
Pyeritz, R.E.2
Hall, B.D.3
Cadle, R.G.4
Hamosh, A.5
Schwartz, J.6
Meyers, D.A.7
Francomano, C.A.8
-
30
-
-
0025018011
-
Location on chromosome 15 of the gene defect causing Marfan syndrome
-
Kainulainer K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990;323:935-9.
-
(1990)
N Engl J Med
, vol.323
, pp. 935-939
-
-
Kainulainer, K.1
Pulkkinen, L.2
Savolainen, A.3
Kaitila, I.4
Peltonen, L.5
-
31
-
-
0025862134
-
Partial sequence of a candidate gene for the Marfan syndrome
-
Maslan CL, Corson GM, Maddox BK, Glanville RW, Sakai LY. Partial sequence of a candidate gene for the Marfan syndrome. Nature 1991;352:334-7.
-
(1991)
Nature
, vol.352
, pp. 334-337
-
-
Maslan, C.L.1
Corson, G.M.2
Maddox, B.K.3
Glanville, R.W.4
Sakai, L.Y.5
-
32
-
-
0027290687
-
Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms
-
Uitto J, Christiano AM. Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms. Dermatol Clin 1993;11:549-63.
-
(1993)
Dermatol Clin
, vol.11
, pp. 549-563
-
-
Uitto, J.1
Christiano, A.M.2
-
33
-
-
0017361002
-
The role of human skin collagenase in epidermolysis bullosa
-
Bauer EA, Gedde-Dahl T, Eisen AZ. The role of human skin collagenase in epidermolysis bullosa. J Invest Dermatol 1977;68: 119-24.
-
(1977)
J Invest Dermatol
, vol.68
, pp. 119-124
-
-
Bauer, E.A.1
Gedde-Dahl, T.2
Eisen, A.Z.3
-
34
-
-
0029330198
-
Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa
-
Uitto J, Hovnanian A, Christiano AM. Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Physicians 1995;107:245-52.
-
(1995)
Proc Assoc Am Physicians
, vol.107
, pp. 245-252
-
-
Uitto, J.1
Hovnanian, A.2
Christiano, A.M.3
-
35
-
-
0028589635
-
Molecular basis for the dystrophic forms of epidermolysis bullosa: Mutations in the type VII collagen gene
-
Uitto J, Christiano AM. Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res 1994;287:16-22.
-
(1994)
Arch Dermatol Res
, vol.287
, pp. 16-22
-
-
Uitto, J.1
Christiano, A.M.2
-
36
-
-
0028348553
-
Dominant dystrophic epidermolysis bullosa: Identification of a Gly->Ser substitution in the triple-helical domain of type VII collagen
-
Christiano AM, Ryynanen M, Uitto J. Dominant dystrophic epidermolysis bullosa: identification of a Gly->Ser substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci U S A 1994;91:3549-53.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 3549-3553
-
-
Christiano, A.M.1
Ryynanen, M.2
Uitto, J.3
-
37
-
-
0029897474
-
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
-
McGrath JA, Gatalica B, Li K, Dunnill MG, McMillan JR, Christiano AM, Eady RA, Uitto J. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol 1996;148:1727-31.
-
(1996)
Am J Pathol
, vol.148
, pp. 1727-1731
-
-
McGrath, J.A.1
Gatalica, B.2
Li, K.3
Dunnill, M.G.4
McMillan, J.R.5
Christiano, A.M.6
Eady, R.A.7
Uitto, J.8
-
38
-
-
0017576554
-
Surgical management of esophageal stricture due to recessive dystrophic epidermolysis bullosa
-
Fonkalsrud EW, Ament ME. Surgical management of esophageal stricture due to recessive dystrophic epidermolysis bullosa. J Pediatr Surg 1977;12:221-6.
-
(1977)
J Pediatr Surg
, vol.12
, pp. 221-226
-
-
Fonkalsrud, E.W.1
Ament, M.E.2
|