Search Results - "WILKIN, Douglas J"

Calcification in Atherosclerosis: Bone Biology and Chronic Inflammation at the Arterial Crossroads by Doherty, Terence M., Asotra, Kamlesh, Fitzpatrick, Lorraine A., Qiao, Jian-Hua, Wilkin, Douglas J., Detrano, Robert C., Dunstan, Colin R., Shah, Prediman K., Rajavashisth, Tripathi B.

“…Dystrophic or ectopic mineral deposition occurs in many pathologic conditions, including atherosclerosis. Calcium mineral deposits that frequently accompany…”
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 by Tavormina, Patricia L, Shiang, Rita, Thompson, Leslie M, Zhu, Ya-Zhen, Wilkin, Douglas J, Lachman, Ralph S, Wilcox, William R, Rimoin, David L, Cohn, Daniel H, Wasmuth, John J

“…Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features…”
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Increased expression of membrane type 3-matrix metalloproteinase in human atherosclerotic plaque: Role of activated macrophages and inflammatory cytokines by UZUI, Hiroyasu, HARPF, Alice, SHAH, Prediman K, RAJAVASHISTH, Tripathi B, MING LIU, DOHERTY, Terence M, SHUKLA, Arun, CHAI, Ning-Ning, TRIPATHI, Pinky V, JOVINGE, Stefan, WILKIN, Douglas J, ASOTRA, Kamlesh

“…Matrix metalloproteinases (MMPs) are thought to play a prominent role in atherogenesis and destabilization of plaque. Pericellularly localized membrane-type…”
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The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1 by Liberfarb, Ruth M., Levy, Howard P., Rose, Peter S., Wilkin, Douglas J., Davis, Joie, Balog, Joan Z., Griffith, Andrew J., Szymko-Bennett, Yvonne M., Johnston, Jennifer J., Francomano, Clair A.

“…Purpose: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative COL2A1 mutation has been identified, determine the prevalence of…”
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Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging by Vajo, Z, King, L M, Jonassen, T, Wilkin, D J, Ho, N, Munnich, A, Clarke, C F, Francomano, C A

“…Mutations in the Caenorhabditis elegans gene clk-1 have a major effect on slowing development and increasing life span. The Saccharomyces cerevisiae homolog…”
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Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation by Weis, M A, Wilkin, D J, Kim, H J, Wilcox, W R, Lachman, R S, Rimoin, D L, Cohn, D H, Eyre, D R

“…Type II collagen mutations have been identified in a phenotypic continuum of chondrodysplasias that range widely in clinical severity. They include…”
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Bone dysplasias in man: molecular insights by Francomano, Clair A, McIntosh, Iain, Wilkin, Douglas J

“…The recent explosion in the number of identified genes involved in the human skeletal dysplasias has dramatically advanced this particular field. While linkage…”
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The Xenopus XIHbox 6 homeo protein, a marker of posterior neural induction, is expressed in proliferating neurons by WRIGHT, C. V. E, MORITA, E. A, WILKIN, D. J, DE ROBERTIS, E. M

“…XIHbox 6 is an early spatially restricted marker for molecular studies of neural induction. The sequence of the full-length XIHbox 6 protein is reported. An…”
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The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans by Vajo, Zoltan, Francomano, Clair A., Wilkin, Douglas J.

“…Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births. More than 90% of cases are sporadic…”
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Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21 by Johnson, Maureen R., Wilkin, Douglas J., Vos, Hans L., Ortiz De Luna, Rosa Isela, Dehejia, Anindya M., Polymeropoulos, Mihael H., Francomano, Clair A.

“…Ecm1, the mouse gene encoding extracellular matrix protein 1, is highly expressed in bone and cartilage as well as in osteogenic, preosteoblastic and…”
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The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans by Vajo, Z.

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A Second Locus for Familial High Myopia Maps to Chromosome 12q by Young, Terri L., Ronan, Shawn M., Alvear, Alison B., Wildenberg, Scott C., Oetting, William S., Atwood, Larry D., Wilkin, Douglas J., King, Richard A.

“…Myopia, or nearsightedness, is the most common eye disorder worldwide. “Pathologic” high myopia, or myopia of ≤−6.00 diopters, predisposes individuals to…”
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Evidence That a Locus for Familial High Myopia Maps to Chromosome 18p by Young, Terri L., Ronan, Shawn M., Drahozal, Leslie A., Wildenberg, Scott C., Alvear, Alison B., Oetting, William S., Atwood, Larry D., Wilkin, Douglas J., King, Richard A.

“…Myopia, or nearsightedness, is the most common human eye disorder. A genomewide screen was conducted to map the gene(s) associated with high, early-onset,…”
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Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome by Wilkin, Douglas J., Szabo, Jinny K., Cameron, Rhoda, Henderson, Shirley, Bellus, Gary A., Mack, Michelle L., Kaitila, Ilkka, Loughlin, John, Munnich, Arnold, Sykes, Bryan, Bonaventure, Jacky, Francomano, Clair A.

“…More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which…”
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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder by MORTIER, G. R, WEIS, M, NUYTINCK, L, KING, L. M, WILKIN, D. J, DE PAEPE, A, LACHMAN, R. S, RIMOIN, D. L, EYRE, D. R, COHN, D. H

“…Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the…”
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The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans1 by Vajo, Zoltan, Francomano, Clair A, Wilkin, Douglas J

“…Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births. More than 90% of cases are sporadic…”
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Incorporation of Structurally Defective Type II Collagen into Cartilage Matrix in Kniest Chondrodysplasia by Fernandes, Russell J., Wilkin, Douglas J., Weis, Mary Ann, Wilcox, William R., Cohn, Daniel H., Rimoin, David L., Eyre, David R.

“…Kniest dysplasia, a human chondrodysplasia that severely affects skeletal growth, is caused by mutations in the type II collagen gene, COL2A1. We report here…”
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Isolation and sequence of the human farnesyl pyrophosphate synthetase cDNA. Coordinate regulation of the mRNAs for farnesyl pyrophosphate synthetase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, and 3-hydroxy-3-methylglutaryl coenzyme A synthase by phorbol ester by Wilkin, D J, Kutsunai, S Y, Edwards, P A

“…We report the isolation and nucleotide sequence of the human farnesyl pyrophosphate synthetase cDNA, an enzyme in the cholesterogenic pathway. Partial cDNAs…”
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Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder by Mortier, Geert R, Weis, MaryAnn, Nuytinck, Lieve, King, Lily M, Wilkin, Douglas J, De Paepe, Anne, Lachman, Ralph S, Rimoin, David L, Eyre, David R, Cohn, Daniel H

“…Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the…”
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Coenzyme Q Deficiency in Two Unrelated Patients-Molecular Studies by Vajo, Zoltan, Munnich, Arnold, Wilkin, Douglas J., Brinton, Eliot A.

“…Coenzyme Q (CoQ) is a key lipid component in the mitochondrial respiratory chain. Unambiguous and severe CoQ deficiency associated with encephalomyopathy has…”
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