Search Results - "Spotila, L D"

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density by Zhang, H, Sol-Church, K, Rydbeck, H, Stabley, D, Spotila, L. D, Devoto, M

“…Summary A quantitative trait locus (QTL) for BMD maps to chromosome 1p36. We have analyzed a high density SNP panel from this region for linkage and…”
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The leatherback turtle, Dermochelys coriacea, exhibits both polyandry and polygyny by Crim, J. L., Spotila, L. D., Spotila, J. R., O'Connor, M., Reina, R., Williams, C. J., Paladino, F. V.

“…The leatherback turtle (Dermochelys coriacea) is an endangered species, and world‐wide populations are declining. To understand better the mating structure of…”
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Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36 by Spotila, L D, Rodriguez, H, Koch, M, Tenenhouse, H S, Tenenhouse, A, Li, H, Devoto, M

“…Two candidate genes for bone mineral density (BMD), tumor necrosis factor alpha receptor 2 (TNFRSF1B) and lysyl hydroxylase (PLOD1), have been scanned for…”
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Association of a Polymorphism in the TNFR2 Gene with Low Bone Mineral Density by Spotila, L. D., Rodriguez, H., Koch, M., Adams, K., Caminis, J., Tenenhouse, H. S., Tenenhouse, A.

“…Previous genetic linkage data suggested that a gene on chromosome 1p36.2–36.3 might be linked to low bone mineral density (BMD). Here, we examine the gene for…”
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Mutation analysis of coding sequences for type I procollagen in individuals with low bone density by Spotila, Loretta D., Colige, Alain, Sereda, Larisa, Constantinou‐Deltas, Constantinos D., Whyte, Michael P., Riggs, Lawrence B., Shaker, Joseph L., Spector, Timothy D., Hume, Eric, Olsen, Nancy, Attie, Maurice, Tenenhouse, Alan, Shane, Elizabeth, Briney, Walter, Prockop, Darwin J.

“…Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder…”
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Mutation in a Gene for Type I Procollagen (COL1A2) in a Woman with Postmenopausal Osteoporosis: Evidence for Phenotypic and Genotypic Overlap with Mild Osteogenesis Imperfecta by Spotila, Loretta D., Constantinou, Constantinos D., Sereda, Larisa, Ganguly, Arupa, Riggs, B. Lawrence, Prockop, Darwin J.

“…Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme…”
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First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q by Devoto, M, Shimoya, K, Caminis, J, Ott, J, Tenenhouse, A, Whyte, MP, Sereda, L, Hall, S, Considine, E, Williams, CJ, Tromp, G, Kuivaniemi, H, Ala-Kokko, L, Prockop, DJ, Spotila, LD

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Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36 by DEVOTO, Marcella, SPECCHIA, Claudia, LI, Hui-Hua, CAMINIS, John, TENENHOUSE, Alan, RODRIGUEZ, Hetty, SPOTILA, Loretta D

“…Osteoporosis is a common condition characterized by reduced skeletal strength and increased susceptibility to fracture. Eight million Americans over the age of…”
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Vitamin D receptor genotype is not associated with bone mineral density in three ethnic/regional groups by Spotila, L D, Caminis, J, Johnston, R, Shimoya, K S, O'Connor, M P, Prockop, D J, Tenenhouse, A, Tenenhouse, H S

“…We report a cross-sectional study of 48 men, 56 premenopausal women, and 80 postmenopausal women who were of three ethnic/regional backgrounds: southern…”
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Cloning and sequencing of Haemophilus influenzae outer membrane protein P6 by NELSON, M. B, APICELLA, M. A, MURPHY, T. F, VANKEULEN, H, SPOTILA, L. D, REKOSH, D

“…Classifications Services IAI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance by Spotila, L D, Caminis, J, Devoto, M, Shimoya, K, Sereda, L, Ott, J, Whyte, M P, Tenenhouse, A, Prockop, D J

“…The genetic factors involved in determining bone mineral density (BMD) have not been fully elucidated. We have begun genetic linkage analysis of seven families…”
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First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q by Devoto, M, Shimoya, K, Caminis, J, Ott, J, Tenenhouse, A, Whyte, M P, Sereda, L, Hall, S, Considine, E, Williams, C J, Tromp, G, Kuivaniemi, H, Ala-Kokko, L, Prockop, D J, Spotila, L D

“…Osteoporosis is characterized by low bone density, and osteopenia is responsible for 1.5 million fractures in the United States annually. In order to identify…”
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Age Dependence of the Influence of Methylenetetrahydrofolate Reductase Genotype on Plasma Homocysteine Level by Spotila, Loretta D., Jacques, Paul F., Berger, Peter B., Ballman, Karla V., Ellison, R. Curtis, Rozen, Rima

“…An elevated plasma homocysteine level is a risk factor for cardiovascular disease and is often observed in other common disorders, including neural tube…”
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Self-assembly of collagen I from a proband homozygous for a mutation that substituted serine for glycine at position 661 in the alpha 2(I) chain. Possible relationship between the effects of mutations on critical concentration and the severity of the phenotype by Romanic, A M, Spotila, L D, Adachi, E, Engel, J, Hojima, Y, Prockop, D J

“…Procollagen I was isolated from cultured skin fibroblasts from a proband who was homozygous for a mutation in the COL1A2 gene that substituted a serine codon…”
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Method of mapping DNA replication origins by SPOTILA, L. D, HUBERMAN, J. A

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus by SPOTILA, L. D, SEREDA, L, PROCKOP, D. J

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A cloned DNA probe identifies the sex of Schistosoma mansoni cercariae by Spotila, L D, Rekosh, D M, Boucher, J M, LoVerde, P T

“…This report describes a method for the identification of the sex of Schistosoma mansoni cercariae using a cloned DNA probe which is female-specific. The probe…”
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Two-dimensional analysis of proteins sedimenting with simian virus 40 chromosomes by Milavetz, B I, Spotila, L D, Thomas, R, Huberman, J A

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Expression of a new RNA-splice isoform of WT1 in developing kidney–gonadal complexes of the turtle, Trachemys scripta by Spotila, Loretta D, Hall, Sarah E

“…WT1 is a tumor suppressor gene encoding a zinc finger DNA-binding protein required for normal vertebrate kidney and gonad development. Although the sequence…”
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Molecular mechanisms of TSD in reptiles: a search for the magic bullet by Spotila, J R, Spotila, L D, Kaufer, N F

“…Significant progress has been made in understanding mechanisms of genetic sex determination. The ZFY gene encodes a zinc finger protein but is not the primary…”
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