Výsledky vyhledávání - "William G. Cole"

Akademický článek

How stand productivity results from size- and competition-dependent growth and mortality.

Autor: John P Caspersen, Mark C Vanderwel, William G Cole, Drew W Purves

Publikováno v: PLoS ONE, Vol 6, Iss 12, p e28660 (2011)

BACKGROUND: A better understanding of the relationship between stand structure and productivity is required for the development of: a) scalable models that can accurately predict growth and yield dynamics for the world's forests; and b) stand managem

Externí odkaz: https://doaj.org/article/88c2a7527c7142b59e550dc7f85541c1

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First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

Autor: Ralph A Zirngibl, Wolfgang Vogel, Luisa Moreno, Tanya Zappitelli, William G. Cole, Janet Rossant, Lucy R. Osborne, Frieda Chen, Jane E. Aubin, Lee Adamson, Esther Rosenthal, Ruolin Guo, Marc D. Grynpas, Ann M. Flenniken, Shousaku Itoh

Publikováno v: Journal of Bone and Mineral Research. 29:1412-1423

By using a genome-wide N-ethyl-N-nitrosourea (ENU)-induced dominant mutagenesis screen in mice, a founder with low bone mineral density (BMD) was identified. Mapping and sequencing revealed a T to C transition in a splice donor of the collagen alpha1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a2032596fbf8442fd9de02e19c61ec3
https://doi.org/10.1002/jbmr.2177

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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Publikováno v: New England Journal of Medicine. 368:1809-1816

This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b34ff72a30b5568e33c4f5efa6a209
https://doi.org/10.1056/nejmoa1215458

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Contributors

Autor: Jonathan Akikusa, Salvatore Albani, Roger Allen, Khaled Alsaeid, Tadej Avčin, Paul S. Babyn, Arvind Bagga, Karyl S. Barron, Mara L. Becker, Susanne M. Benseler, Timothy Beukelman, Paul Brogan, Hermine I. Brunner, Rubèn Burgos-Vargas, Jill Buyon, David A. Cabral, Sharon Choo, Rolando Cimaz, Robert Allen Colbert, William G. Cole, Iris Davidson, Fabrizio De Benedetti, Andrea S. Doria, Frank Dressler, Ciarán M. Duffy, Despina Eleftheriou, Brian M. Feldman, Polly J. Ferguson, Robert Fuhlbrigge, Marco Gattorno, Alexei A. Grom, Philip J. Hashkes, Kristin Houghton, Hans-Iko Huppertz, Norman T. Ilowite, Edgar Jaeggi, Daniel L. Kastner, Adam Kirton, Marisa Klein-Gitelman, Gay Kuchta, Jerome Charles Lane, Ronald M. Laxer, Claire LeBlanc, Steven J. Leeder, G. Elizabeth Legger, Suzanne C. Li, Carol B. Lindsley, Dan Lovell, Outi Makitie, Alberto Martini, Frederick W. Miller, Kimberly Morishita, Peter A. Nigrovic, Kiem G. Oen, Kathleen M. O'Neil, Seza Ozen, Peri H. Pepmueller, Ross E. Petty, Elena Pope, Sampath Prahalad, Berent Prakken, Michael Rapoff, Lisa G. Rider, Carlos Daniel Rosé, James T. Rosenbaum, Alan M. Rosenberg, Johannes Roth, Ricardo Alberto Guillermo, Rayfel Schneider, Christiaan Scott, David D. Sherry, Earl Silverman, Mary Beth Son, Robert P. Sundel, Susan D. Thompson, Karin Tiedemann, Shirley M.L. Tse, Lori Tucker, Yosef Uziel, Joris van Montfrans, Janitzia Vazques-Mellado, Leanne Ward, Lucy R. Wedderburn, Carine Wouters, James Wright, Nico M. Wulffraat, Lawrence Zemel, Francesco Zulian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2361a7d29be1e6ac2070f5681103d3ef
https://doi.org/10.1016/b978-0-323-24145-8.00060-0

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Primary Disorders of Connective Tissue

Autor: William G. Cole, Outi Mäkitie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da12d7665cb5bf67974bb1e074b27e6f
https://doi.org/10.1016/b978-0-323-24145-8.00054-5

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Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis

Autor: Marika Löija, Leena Ala-Kokko, Etienne Sochett, Minna Männikkö, Outi Mäkitie, Stefano Mora, William G. Cole, Dirk Schnabel, Johanna Korvala, Harald Jüppner

Publikováno v: European Journal of Medical Genetics. 55:515-519

Childhood-onset primary osteoporosis is manifested as reduced bone mineral density, peripheral fractures and/or vertebral compression fractures. Until now, only mutations in LRP5 have been shown to cause the disorder. Candidate gene analyses were per

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7b1432d2e164b4fb3aa775b3b6f507
https://doi.org/10.1016/j.ejmg.2012.06.011

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Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-α1(V) C-propeptide

Autor: Amanda M. Branam, Daniel S. Greenspan, Guorui Huang, Francisco Pelegri, William G. Cole, Richard M. Wenstrup, Guy G. Hoffman

Publikováno v: Matrix Biology. 29:261-275

Genes for tetrapod fibrillar procollagen chains can be divided into two clades, A and B, based on sequence homologies and differences in protein domain and gene structures. Although the major fibrillar collagen types I-III comprise only clade A chain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ca4cb2eb736b0f40b772e0f136b742
https://doi.org/10.1016/j.matbio.2010.01.006

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Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation

Autor: Heikki Kröger, Outi Mäkitie, William G. Cole, Renata C. Pereira, Tero Laine, Serap Turan, Murat Bastepe, Harald Jüppner, Ilkka Kaitila

Publikováno v: Journal of Bone and Mineral Research

Homozygous inactivating mutations in DMP1 (dentin matrix protein 1), the gene encoding a noncollagenous bone matrix protein expressed in osteoblasts and osteocytes, cause autosomal recessive hypophosphatemia (ARHP). Herein we describe a family with A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0356a2800f28d2c6c4c9d96235ae7d57
http://europepmc.org/articles/PMC3153319

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Cytoskeletal Abnormalities in Chondrocytes with EXT1 and EXT2 Mutations

Autor: Daniel D. Carson, Jacqueline T. Hecht, Dina Montufar-Solis, Mark B. Snuggs, Allison Scott, Tiffany Sanford, P. Jackie Duke, Deborah Hogue, William G. Cole, Mark A. Bernard, W. Barry Van Winkle

Publikováno v: Journal of Bone and Mineral Research. 15:442-450

The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas. Two HME disease genes, EXT1 and EXT2,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681f6db02e7dc425357f740c8f31ba70
https://doi.org/10.1359/jbmr.2000.15.3.442

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Regulation of alkaline phosphatase expression in a neonatal rat clonal calvarial cell strain by retinoic acid

Autor: William G. Cole, Kong Wah Ng, Thomas Mascara, John F. Bateman, Paul R. Gummer, V. P. Michelangeli, T. John Martin

Publikováno v: Journal of Bone and Mineral Research. 3:53-61

A clonal cell strain, UMR 201, was established from a culture of rat calvarial cells by the process of limiting dilution on a collagen substratum. One-day-old neonatal rat calvaria stripped of periosteum were placed on collagen in α-MEM with 10% fet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad982c29d95f4242ec368b7536957e8
https://doi.org/10.1002/jbmr.5650030109

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