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Peter Barling's Contributions Course readings may only be used for the University's educational purposes. You may print a copy for your own use, but you may not make a further copy for any other purpose. You may not copy or distribute any part of the reading to any other person. Failure to comply with these terms may expose you to legal action for copyright infringement and/or disciplinary action by the University. * Please note that some references will require you to download the PDF from within the hyperlinks given below. You can do this by choosing the 'Begin manual download' option.
General reviews of bone biology and defectsShum, L., Coleman, C.M.,
Hatakeyama, Y., and Tuan, R.S (2003).
Morphogenesis
and dysmorphogenesis of the appendicular skeleton.
Birth Defects Research (Part C) 69 (2),
102–122 Karsenty, G. (2003). The
complexities of skeletal biology. Nature, 423 (6937), 316-318 Mariani, F.V., & Martin,
G.R. (2003).
Deciphering
skeletal patterning: clues from the limb. Nature, 423 (6937), 319-325 Helms, J.A., &
Schneider, R.A. (2003).. Cranial
skeletal biology. Nature, 423 (6937), 326-331 Kronenberg, H.M. (2003). Developmental
regulation of the growth plate. Nature, 423 (6937), 332-336 Boyle, W.J., Simonet, W.S.,
& Lacey, D.L. (2003). Osteoclast
differentiation
and activation. Nature,
423 (6937), 337-342 Zelzer, E & Olsen, B.R. (2003). The genetic basis for skeletal diseases. Nature, 423 (6937), 343-348 Harada, S-i., & Rodan,
G.A. (2003). Control
of osteoblast function and regulation of bone mass. Nature, 423 (6937),
349-355 Firestein, G.S. (2003). Evolving
concepts of rheumatoid arthritis. Nature, 423 (6937), 356-361 Baitner, A.C., Maurer, S.G., Gruen, M.B., & Di Cesare, P.E. (2000). The genetic basis of the osteochondrodysplasias. Journal of Pediatric Orthopaedics, 20 (5), 594–605 (Choose 'Ovid Full Text')
Inherited
bone diseases
Campomelic
dysplasia: Sock, E., Pagon, R.A., Keymolen,
K., Lissens, W., Wegner, M., & Scherer, G.
Loss
of DNA-dependent dimerization of the transcription factor SOX9 as a cause
for campomelic dysplasia. Human Molecular Genetics, 12 (12), 1439–1447 Bridgewater, L.C., Walker, M.D.,
Miller, G.C., Ellison, T.A., Holsinger, L.D., Potter, J.L., et al. (2003).
Adjacent DNA
sequences modulate Sox9 transcriptional activation at paired Sox sites in
three chondrocyte-specific enhancer elements.
Nucleic Acids Research, 31 (5), 1541-1553 Carbonic anhydrase II deficiency: Borthwick, K.J., Kandemir, N.,
Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., et al (2003).
A phenocopy of CAII deficiency: a novel genetic explanation for inherited
infantile osteopetrosis with distal renal tubular acidosis.
Journal of Medical Genetics, 40, 115-121 Lotan, D., Eisenkraft, A.,
Jacobsson, J.M., Bar-Yosef O., Kleta, R., Gal, N., et al. (2006). Clinical
and molecular findings in a family with the carbonic anhydrase II
deficiency syndrome. Pediatric Nephrology, 21, 423–426 Leppilampi, M., Parkkila, S.,
Karttunen, T., Gut, M.O., Gros, G., & Sjoblom, M. (2005).
Carbonic anhydrase isozyme-II-deficient mice lack the duodenal bicarbonate
secretory response to prostaglandin E2.
Proceedings of the National Academy of Sciences, 102 (42), 15247–15252 Diastrophic dysplasia sulfate transporter: Karniski, L.P. (2004). Functional
expression and cellular distribution of diastrophic dysplasia sulfate
transporter (DTDST) gene mutations in HEK cells. Human Molecular Genetics,
13 (19), 2165–2171 FGFR3-related chondrodysplasias: Legeai-Mallet, L.,
Benoist-Lasselin, C., Munnich, A., and Bonaventure, J. (2004).
Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with
phenotypic severity and defective chondrocyte differentiation in
FGFR3-related chondrodysplasias. Bone, 34, 26–36 Satiroglu-Tufan NL, Tufan AC,
Semerci CN, & Bagci H., (2006) Accurate diagnosis of a homozygous
G1138A mutation in the fibroblast growth factor receptor 3 gene
responsible for achondroplasia. Tohoku Journal of Experimental
Medicine,
208, 103-7 Bloom, M.W., Murakami, S., Cody, S.M.D.,
Montufar-Solis, D., & Duke, P.J. (2006). Aspects of achondroplasia in
the skulls of dwarf transgenic mice: a cephalometric study.
The Anatomical Record, 288A (3), 316–322 Fibrodysplasia ossificans progressiva: Couzin, J. (2006). Biomedical
research: bone disease gene finally found. Science 312, 514-515 Shore, E.M., Xu, M.,
Feldman, G.J., Fenstermacher, D.A., Brown, M.A., & Kaplan, F.S.
(2006) A recurrent mutation
in the BMP type I receptor ACVR1 causes inherited and sporadic
fibrodysplasia ossificans progressiva. Nature Genetics 38, (5), 525-527 Hypophosphatasia: Harmey, D., Hessle, L., Narisawa,
S., Johnson, K.A., Terkeltaub, R., & Milla, J.L. (2004). Concerted
regulation of inorganic pyrophosphate and osteopontin by Akp2, Enpp1, and
Ank. An integrated model of the pathogenesis of mineralization disorders.
American Journal of Pathology 164 (4), 1199-1209 Mornet, E., Simon-Bouy, B. (2004). Génétique de l’hypophosphatasie.
Archives de Pédiatrie, 11, 444–448 Osteogenesis imperfecta: Persikov, A.V., Pillitteri, R.J.,
Amin, P., Schwarze, U., Byers, P.J., & Brodsky, B. (2004).
Stability related bias in residues replacing glycines within the collagen
triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Human
Mutation 24, 330-337 Cabral, W.A., Makareeva, E., Colige, A., Letocha, A.D., Ty, J.M., Yeowell, H.M., et al (2005). Mutations near amino end of alpha 1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. The Journal of Biological Chemistry, 280 (19), 19259–19269
FractureMatthews, S.J.E., (2005).
Biological activity of bone morphogenetic proteins (BMP’s). Injury,
International Journal of the Care of the Injured, 36S, S34—S37 Westerhuis, R.J., van Bezooijen,
R.L., Kloen, P. (2005) Use of bone morphogenetic proteins in traumatology.
Injury, International Journal of the Care of the Injured 36, 1405—1412 Termaat, M.F., Den Boer, F.C.,
Bakker, F.C., Patka, P., & Haarman, HJThM., (2005). Bone
morphogenetic proteins. Development and clinical efficacy in the treatment
of fractures and bone defects. Journal of Bone and Joint Surgery, 87
(6),
1367-1378 Choi, I.H., Chung, C.Y., Cho,
T-J., Yoo, W.J. (2002). Angiogenesis and Mineralization During Distraction
Osteogenesis. Journal of Korean Medical Science 17, 435-447 Aspenberg, P. (2005). Drugs
and fracture repair. Acta Orthopaedica, 76 (6), 741–748 Tsiridis, E., &
Giannoudis, P.V. (2006). Transcriptomics and proteomics: Advancing the
understanding of genetic basis of fracture healing.
Injury, International Journal of the Care of the Injured, 37S, S13—S19 Dimitriou, R., Tsiridis, E.,
& Giannoudis, P.V. (2005). Current concepts of molecular aspects of
bone healing. Injury, International Journal of the Care of the Injured, 36,
1392—1404 Dimitriou, R., Tsiridis, E., Carr,
I., Simpson, H., & Giannoudis, P.V. (2006). The role of inhibitory
molecules in fracture healing. Injury, International Journal of the Care
of the Injured, 37S (1), S20—S29 Li, L., Pettit, A.R., Gregory, L.S., & Forwood, M.R. (2006). Regulation of bone biology by prostaglandin endoperoxide H synthases (PGHS): A rose by any other name. Cytokine & Growth Factor Reviews, 17 (3), 203–216
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