Robert D. Blank

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Inheritance of restriction fragment length polymorphisms associated with four anonymous DNA markers (D12Nyu1, 2, 3 and 4), the Fos proto-oncogene, the Mtv-9 viral integration site, and the alpha 1-antitrypsin (Aat-1) and immunoglobulin heavy chain (Igh) gene families in the mouse has been followed in a backcross experiment. A Bayesian multilocus(More)
Osteogenesis imperfecta (OI), or brittle bone disease, is most often caused by dominant mutations in the collagen I genes COL1A1/COL1A2, whereas rarer recessive OI is often caused by mutations in genes encoding collagen I-interacting proteins. Recently, mutations in the gene for the proteinase bone morphogenetic 1 (BMP1) were reported in two recessive OI(More)
Fracture susceptibility depends jointly on bone mineral content (BMC), gross bone anatomy, and bone microarchitecture and quality. Overall, it has been estimated that 50-70% of bone strength is determined genetically. Because of the difficulty of performing studies of the genetics of bone strength in humans, we have used the HcB/Dem series of recombinant(More)
Many densitometric studies in mice assess bone mineral density (BMD) at specified regions of interest, often using ex vivo specimens. In the present study, we sought to determine the precision and accuracy of ex vivo densitometry of mouse bones, comparing two software versions and two data acquisition techniques. The newer software allows manual adjustment(More)
The myc family of proto-oncogenes consists of at least three members, whose expression is tightly and co-ordinately regulated. The genes are nevertheless dispersed to three distinct chromosomal sites in humans. We have now used somatic cell genetics and the analysis of restriction fragment length polymorphisms (RFLPs) to identify and chromosomally map two(More)
Whole bone strength can be partitioned into structural and material components. In three-point bending tests of 6-month-old female humeri from the HcB/Dem recombinant congenic series, strains HcB/8 and HcB/23 differed markedly in calculated failure stress but not ash percentage. Fourier transform infrared spectroscopic imaging was used to determine whether(More)
Inactivating mutations of the "phosphate regulating gene with homologies to endopeptidases on the X chromosome" (PHEX/Phex) underlie disease in patients with X-linked hypophosphatemia (XLH) and the hyp-mouse, a murine homologue of the human disorder. Although increased serum fibroblast growth factor 23 (FGF-23) underlies the HYP phenotype, the mechanism(s)(More)