Mineralized Tissue: Histology, Biology and Biochemistry - Osteogenesis Imperfecta - page 35

behavior Fratzl P, editor. Collagen: Structure and Mechanics.
Springer Science + Business Media, LLC; 2008. p. 447-74.
[3] Barnes AM, Lindahl K, Whyte M, et al. COL1 C-propeptide
cleavage site mutations cause OI with increased bone mineral-
ization. Human Mutation 2011;32:598-609.
[4] Aubin I, Adams CP, Opsahl S, et al. A deletion in the gene
encoding sphingomyelin phosphodiesterase 3 (Smpd3) results
in osteogenesis and dentinogenesis imperfecta in the mouse.
Nat Genet 2005;37:803-5.
[5] Camacho NP, Landis WJ, Boskey AL. Mineral changes in a mouse
model of osteogenesis imperfecta detected by Fourier transform
infrared microscopy. Connect Tissue Res 1996;35:259-65.
[6] Camacho NP, Hou L, Toledano TR, et al. The material basis for
reduced mechanical properties in oim mice bones. J Bone Miner
Res 1999;14:264-72.
[7] Fratzl-Zelman N, Morello R, et al. CRTAP deiciency leads to
abnormally high bone matrix mineralization in a murine model
and in children with osteogenesis imperfecta type VII. Bone 2010;
46:820-6.
[8] Dahl T, Veis A. Electrostatic interactions lead to the formation
of asymmetric collagen-phosphophoryn aggregates. Connect
Tissue Res 2003;44S1:206-13.
[9] Lapunzina P, Aglan M, Temtamy S, et al. Identiication of a
frameshift mutation in Osterix in a patient with recessive osteo-
genesis imperfecta. Am J Human Genet 2010;87:110-4.

pro-alpha2(I) and severe osteogenesis imperfecta. J Bone Miner
Res 2001;16:1147-53.

[24] Kamoun-Goldrat AS, Le Merrer MF. Animal models of osteo-

genesis imperfecta and related syndromes. J Bone Miner Metab
2007;25:211-8.

[25] Fisher S, Jagadeeswaran P, Halpern ME. Radiographic analysis

of zebraish skeletal defects. Dev Biol 2003;264:64-76.

[26] Paritt AM, Drezner MK, Glorieux FG, et al. Bone histomor-

phometry: standardization of nomenclature, symbols and units.
J Bone Miner Res 1987;2:595-610.

[27] Rauch F, Travers R, Paritt AM, Glorieux FH. Static and dynamic

bone histomorphometry in children with osteogenesis imper-
fecta. Bone 2000;26:581-9.

[28] Erben RG. Embedding of bone samples in methylmethacrylate:

an improved method suitable for bone histomorphometry, his-
tochemistry and immunohistochemistry. J Histochem Cytochem
1997;45:307-13.

[29] Follis RH. Osteogenesis imperfecta congenita: a connective tis-

sue diathesis. J Pediat 1952;41:713-21.

[30] McKusick VA. Heritable disorders of connective tissue. V.

Osteogenesis imperfecta. J Chronic Dis 1956;3:180-216.

[31] Doty SB, Mathews RS. Electron microscopic and histochemical

investigation of osteogenesis imperfecta tarda. Clin Orthop Rel
Res 1971;80:191-201.

[32] Falvo KA, Bullough PG. Osteogenesis imperfecta: a histometric

analysis. J Bone Jt Surg 1973;55A:275-86. [10] Gautieri A, Vesentini S, Redaelli A, Buehler MJ. Single molecule

effects of osteogenesis imperfecta mutations in tropocollagen
protein domains. Protein Sci 2009;18:161-8.

[33] Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteo-

genesis imperfecta. J Med Genet 1979;16:101-16.

[11] Vanleene M, Saldanha Z, Cloyd KL, et al. Transplantation of

human fetal blood stem cells in the osteogenesis imperfecta
mouse leads to improvement in multi-scale tissue properties.
Blood 2011;117:1053-60.

[34] Rauch F, Lalic L, Roughley P, Glorieux FH. Relationship

between genotype and skeletal phenotype in children and
adolescents with osteogenesis imperfecta. J Bone Miner Res
2010;25:1367-74.

[12] Yamakoshi Y. Dentin sialophophoprotein (DSPP) and dentin.

J Oral Biosci 2008;50:33-44.

[35] Sarathchandra P, Pope FM, Ali SY. Morphometric analysis of

Type I collagen ibrils in the osteoid of osteogenesis imperfecta.
Calcif Tissue Int 1999;65:390-5. [13] Haruyama N, Sreenath TL, Suzuki S, et al. Genetic evidence

for key roles of decorin and biglycan in dentin mineralization.
Matrix Biol 2009;28:129-36.

[36] Cassella JP, Barber P, Catterall AC, Ali SY. A morphometric anal-

ysis of osteoid collagen ibril diameter in osteogenesis imper-
fecta. Bone 1994;15:329-34. [14] Xu P, Huang J, Cebe P, Kaplan DL. Osteogenesis imperfecta

collagen-like peptides: self-assembly and mineralization on sur-
faces. Biomacromolecules 2008;9:1551-7.

[37] Jones CJ, Cummings C, Ball J, Beighton P. Collagen defect of

bone in osteogenesis imperfecta (Type I). An electron micro-
scopic study. Clin Orthop Relat Res 1984;183:208-14. [15] Boskey AL, Doty SB, Kudryashov V, Mayer-Kuckuk P,

Roy R, Binderman I. Modulation of extracellular matrix pro-
tein phosphorylation alters mineralization in differentiating
chick limb-bud mesenchymal cell micromass cultures. Bone
2008;42:1061-71.

[38] Wallace JM, Orr BG, Marini JC, Holl MM. Nanoscale morphol-

ogy of Type I collagen is altered in the Brtl mouse model of
Osteogenesis Imperfecta. J Struct Biol 2011;173:146-52.

[39] Jones SJ, Glorieux FH, Travers R, Boyde A. The microscopic

structure of bone in normal children and patients with osteo-
genesis imperfecta: a survey using backscattered electron imag-
ing. Calcif Tiss Res 1999;64:8-17.

[16] Goldberg M, Boskey AL. Lipids and biomineralizations. Prog

Histochem Cytochem 1996;31:1-187.

[17] Dorvee JR, Boskey AL, Estroff LA. Rediscovering hydrogel-

based double-diffusion systems for studying biomineralization.
Cryst Eng Comm 2012;14:5681-700.

[40] Culbert AA, Lowe MP, Atkinson M, Byers PH, Wallis GA,

Kadler KE. Substitutions of aspartic acid for glycine-220 and of
arginine for glycine-664 in the triple helix of the proα1 (I) chain
of type I procollagen produce lethal osteogenesis imperfecta and
disrupt the ability of collagen ibrils to incorporate crystalline
hydroxyapatite. Biochem J 1995;311:815-20.

[18] McBride Jr. DJ, Shapiro JR, Dunn MG. Bone geometry and

strength measurements in aging mice with the oim mutation.
Calcif Tissue Int 1998;62:172-6.

[19] Jensen PT, Rasmussen PG, Basse A. Congenital osteogenesis

imperfecta in Charollais cattle. Nord Vet Med 1976;28:304-8. [41] Cassella JP, Stamp TC, Ali SY. A morphological and ultrastruc-

tural study of bone in osteogenesis imperfecta. Calcif Tissue Int
1996;58:155-65.

[20] Fisher LW, Eanes ED, Denholm LJ, Heywood BR, Termine JD.

Two bovine models of osteogenesis imperfecta exhibit decreased
apatite crystal size. Calcif Tissue Int 1987;40:282-5. [42] Paschalis EP, Mendelsohn R, Boskey AL. Infrared assessment of

bone quality: a review. Clin Orthop Relat Res 2011;469:2170-8. [21] Drögemüller C, Becker D, Brunner A, et al. A missense mutation

in the SERPINH1 gene in dachshunds with osteogenesis imper-
fecta. PLoS Genet 2009;5:e1000579.

[43] Camacho NP, Carroll P, Raggio CL. Fourier transform infrared

imaging spectroscopy (FT-IRIS) of mineralization in bisphos-
phonate-treated oim / oim mice. Calcif Tissue Int 2003;72:604-9. [22] Seeliger F, Leeb T, Peters M, Brugmann M, Fehr M, Hewicker-

Trautwein M. Osteogenesis imperfecta in two litters of dachs-
hunds. Vet Patho 2003;40:530-9.

[44] Cassella JP, Pereira R, Khillan JS, Prockop DJ, Garrington N, Ali

SY. An ultrastructural, microanalytical, and spectroscopic study
of bone from a transgenic mouse with a COL1.A1 pro-alpha-1
mutation. Bone 1994;15:611-9.

[23] Campbell BG, Wootton JA, Macleod JN, Minor RR. Canine

COL1A2 mutation resulting in C-terminal truncation of