what-when-how
In Depth Tutorials and Information
[12]
Prockop DJ, Kivirikko KI, Tuderman L, Guzman NA. The bio-
synthesis of collagen and its disorders (second of two parts).
N Engl J Med 1979;301(2):77-85.
pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol
Chem 1984;259(21):12941-12944.
[33]
Ohkubo H, Vogeli G, Mudryj M, Avvedimento VE, Sullivan M,
Pastan I, et  al. Isolation and characterization of overlapping
genomic clones covering the chicken alpha 2 (type I) collagen
gene. Proc Natl Acad Sci USA 1980;77(12):7059-63.
[13]
Prockop DJ, Kivirikko KI, Tuderman L, Guzman NA. The bio-
synthesis of collagen and its disorders (irst of two parts).
N Engl J Med 1979;301(1):13-23.
[14]
Sykes B, Francis MJ, Smith R. Altered relation of two collagen types
in osteogenesis imperfecta. N Engl J Med 1977;296(21):1200-3.
[34]
Schafer MP, Boyd CD, Tolstoshev P, Crystal RG. Structural orga-
nization of a 17 KB segment of the alpha 2 collagen gene: evalu-
ation by R loop mapping. Nucleic Acids Res 1980;8(10):2241-53.
[15]
Penttinen RP, Lichtenstein JR, Martin GR, McKusick VA.
Abnormal collagen metabolism in cultured cells in osteogenesis
imperfecta. Proc Natl Acad Sci USA 1975;72(2):586-9.
[35]
Crick
F.
Split
genes
and
RNA
splicing.
Science
1979;204(4390):264-71.
[16]
Bellamy G, Bornstein P. Evidence for procollagen, a bio-
synthetic precursors of collagen. Proc Natl Acad Sci USA
1971;68(6):1138-42.
[36]
Tolstoshev
P,
Solomon
E.
Collagen
genes.
Nature
1982;300(5893):581-2.
[37]
Mundlos S, Chan D, Weng YM, Sillence DO, Cole WG, Bateman JF.
Multiexon deletions in the type I collagen COL1A2 gene in osteo-
genesis imperfecta type IB. Molecules containing the shortened
alpha2(I) chains show differential incorporation into the bone and
skin extracellular matrix. J Biol Chem 1996;271(35):21068-21074.
[17]
Bachinger HP, Bruckner P, Timpl R, Prockop DJ, Engel J. Folding
mechanism of the triple helix in type-III collagen and type-III
pN-collagen. Role of disulide bridges and peptide bond isom-
erization. Eur J Biochem 1980;106(2):619-32.
[18]
Bachinger HP, Fessler LI, Timpl R, Fessler JH. Chain assembly
intermediate in the biosynthesis of type III procollagen in chick
embryo blood vessels. J Biol Chem 1981;256(24):13193-13199.
[38]
Bateman JF, Chan D, Mascara T, Rogers JG, Cole WG. Collagen
defects in lethal perinatal osteogenesis imperfecta. Biochem J
1986;240(3):699-708.
[19]
Bachinger HP. The inluence of peptidyl-prolyl cis-trans isom-
erase on the in vitro folding of type III collagen. J Biol Chem
1987;262(35):17144-17148.
[39]
Bateman JF, Mascara T, Chan D, Cole WG. Abnormal type I
collagen metabolism by cultured ibroblasts in lethal perinatal
osteogenesis imperfecta. Biochem J 1984;217(1):103-15.
[20]
Berg RA, Prockop DJ. Puriication of (14C) protocollagen
and its hydroxylation by prolyl-hydroxylase. Biochemistry
1973;12(18):3395-401.
[40]
Bonadio J, Byers PH. Subtle structural alterations in the chains
of type I procollagen produce osteogenesis imperfecta type II.
Nature 1985;316(6026):363-6.
[21]
Sakakibara S, Inouye K, Shudo K, Kishida Y, Kobayashi Y,
Prockop DJ. Synthesis of (Pro-Hyp-Gly) n of deined molecular
weights. Evidence for the stabilization of collagen triple helix by
hydroxypyroline. Biochim Biophys Acta 1973;303(1):198-202.
[41]
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(3):1734-42.
[42]
Cohn DH, Byers PH, Steinmann B, Gelinas RE. Lethal osteogen-
esis imperfecta resulting from a single nucleotide change in one
human pro alpha 1(I) collagen allele. Proc Natl Acad Sci USA
1986;83(16):6045-7.
[22]
Rosenbloom J, Harsch M, Jimenez S. Hydroxyproline content
determines the denaturation temperature of chick tendon colla-
gen. Arch Biochem Biophys 1973;158(2):478-84.
[23]
Ogle JD, Arlinghaus RB, Logan MA. 3-Hydroxyproline, a new
amino acid of collagen. J Biol Chem 1962;237:3667-73.
[43]
Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann
R, Byers PH. Cysteine in the triple-helical domain of one
allelic product of the alpha 1(I) gene of type I collagen pro-
duces a lethal form of osteogenesis imperfecta. J Biol Chem
1984;259(17):11129-11138.
[24]
Vranka JA, Sakai LY, Bachinger HP. Prolyl 3-hydroxylase 1,
enzyme characterization and identiication of a novel family of
enzymes. J Biol Chem 2004;279(22):23615-23621.
[25]
Ishikawa Y, Wirz J, Vranka JA, Nagata K, Bachinger HP.
Biochemical characterization of the prolyl 3-hydroxylase 1.car-
tilage-associated protein.cyclophilin B complex. J Biol Chem
2009;284(26):17641-17647.
[44]
Bateman JF, Chan D, Walker ID, Rogers JG, Cole WG. Lethal
perinatal osteogenesis imperfecta due to the substitution of argi-
nine for glycine at residue 391 of the alpha 1(I) chain of type I
collagen. J Biol Chem 1987;262(15):7021-7.
[26]
Trelstad RL, Rubin D, Gross J. Osteogenesis imperfecta congen-
ita: evidence for a generalized molecular disorder of collagen.
Lab Invest 1977;36(5):501-8.
[45]
Vogel BE, Minor RR, Freund M, Prockop DJ. A point muta-
tion in a type I procollagen gene converts glycine 748 of the
alpha 1 chain to cysteine and destabilizes the triple helix
in a lethal variant of osteogenesis imperfecta. J Biol Chem
1987;262(30):14737-14744.
[27]
Barsh GS, Byers PH. Reduced secretion of structurally abnormal
type I procollagen in a form of osteogenesis imperfecta. Proc
Natl Acad Sci USA 1981;78(8):5142-6.
[46]
Bateman JF, Lamande SR, Dahl HH, Chan D, Cole WG.
Substitution of arginine for glycine 664 in the collagen alpha 1(I)
chain in lethal perinatal osteogenesis imperfecta. Demonstration
of the peptide defect by in vitro expression of the mutant cDNA.
J Biol Chem 1988;263(24):11627-11630.
[28]
Barsh GS, Roush CL, Bonadio J, Byers PH, Gelinas RE. Intron-
mediated recombination may cause a deletion in an alpha 1 type I
collagen chain in a lethal form of osteogenesis imperfecta. Proc
Natl Acad Sci USA 1985;82(9):2870-4.
[29]
Chu ML, Gargiulo V, Williams CJ, Ramirez F. Multiexon dele-
tion in an osteogenesis imperfecta variant with increased type
III collagen mRNA. J Biol Chem 1985;260(2):691-4.
[47]
Byers PH, Cole WG. Osteogenesis imperfecta Royce P,
Steinmann B, editors. Connective tissue and its heritable dis-
orders molecular, genetic, and medical aspects (2nd ed.).
New York: Wiley-Liss; 2002.
[30]
Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F.
Internal deletion in a collagen gene in a perinatal lethal form of
osteogenesis imperfecta. Nature 1983;304(5921):78-80.
[48]
Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteo-
genesis imperfecta. J Med Genet 1979;16(2):101-16.
[31]
Deak SB, Nicholls A, Pope FM, Prockop DJ. The molecu-
lar defect in a nonlethal variant of osteogenesis imper-
fecta. Synthesis of pro-alpha 2(I) chains which are not
incorporated into trimers of type I procollagen. J Biol Chem
1983;258(24):15192-15197.
[49]
Battle WH, Shattock SG. A remarkable case of diffuse cancel-
lous osteoma of the femur, following a fracture, in which similar
growths afterwards developed in connection with other bones.
Proc R Soc Med 1908;1:83-115. (Pathol Sect).
[50]
Warman ML, Cormier V, Hall C, Krakow D, Lachman R,
LeMerrer M, et  al. Nosology of skeletal dysplasias. Am J Med
Genet 2011;155(5):943-68.
[32]
Pihlajaniemi T, Dickson LA, Pope FM, Korhonen VR, Nicholls
A, Prockop DJ, et  al. Osteogenesis imperfecta: cloning of a
 
 
Search WWH ::




Custom Search