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2. Expression of a Degradation‐Resistant β‐Catenin Mutant in Osteocytes Protects the Skeleton From Mechanodeprivation‐Induced Bone Wasting

Author

Bullock, Whitney A, Hoggatt, April M, Horan, Daniel J, Lewis, Karl J, Yokota, Hiroki, Hann, Steven, Warman, Matthew L, Sebastian, Aimy, Loots, Gabriela G, Pavalko, Fredrick M, and Robling, Alexander G

Subjects
Osteoporosis, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Animals, Bone Density, Mechanotransduction, Cellular, Mice, Mice, Transgenic, Osteocytes, Osteogenesis, Tibia, X-Ray Microtomography, beta Catenin, beta-CATENIN, CTNNB1, WNT, DISUSE, OSTEOPOROSIS, β-CATENIN, Biological Sciences, Engineering, Medical and Health Sciences, Anatomy & Morphology
Abstract

Mechanical stimulation is a key regulator of bone mass, maintenance, and turnover. Wnt signaling is a key regulator of mechanotransduction in bone, but the role of β-catenin-an intracellular signaling node in the canonical Wnt pathway-in disuse mechanotransduction is not defined. Using the β-catenin exon 3 flox (constitutively active [CA]) mouse model, in conjunction with a tamoxifen-inducible, osteocyte-selective Cre driver, we evaluated the effects of degradation-resistant β-catenin on bone properties during disuse. We hypothesized that if β-catenin plays an important role in Wnt-mediated osteoprotection, then artificial stabilization of β-catenin in osteocytes would protect the limbs from disuse-induced bone wasting. Two disuse models were tested: tail suspension, which models fluid shift, and botulinum-toxin (botox)-induced muscle paralysis, which models loss of muscle force. Tail suspension was associated with a significant loss of tibial bone mass and density, reduced architectural properties, and decreased bone formation indices in uninduced (control) mice, as assessed by dual-energy X-ray absorptiometry (DXA), micro-computed tomography (µCT), and histomorphometry. Activation of the βcatCA allele in tail-suspended mice resulted in little to no change in those properties; ie, these mice were protected from bone loss. Similar protective effects were observed among botox-treated mice when the βcatCA was activated. RNAseq analysis of altered gene regulation in tail-suspended mice yielded 35 genes, including Wnt11, Gli1, Nell1, Gdf5, and Pgf, which were significantly differentially regulated between tail-suspended β-catenin stabilized mice and tail-suspended nonstabilized mice. Our findings indicate that selectively targeting/blocking of β-catenin degradation in bone cells could have therapeutic implications in mechanically induced bone disease. © 2019 American Society for Bone and Mineral Research.

Published
2019

14. RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS)

Author

Broder, Michael S, primary, Adams, Denise M, additional, Canaud, Guillame, additional, Collins, Christy, additional, Davis, Kristen, additional, Frieden, Ilona J., additional, Gibbs, Sarah N, additional, Hammill, Adrienne M, additional, Keppler-Noreuil, Kim M, additional, Nakano, Taizo A, additional, Penington, Anthony, additional, Srivastava, Siddharth, additional, Tollefson, Megha M, additional, and Warman, Matthew L, additional

Published
2023
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17. Nosology of genetic skeletal disorders: 2023 revision

Author

Genetica Klinische Genetica, Unger, Sheila, Ferreira, Carlos R, Mortier, Geert R, Ali, Houda, Bertola, Débora R, Calder, Alistair, Cohn, Daniel H, Cormier-Daire, Valerie, Girisha, Katta M, Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V Reid, Warman, Matthew L, Superti-Furga, Andrea, Genetica Klinische Genetica, Unger, Sheila, Ferreira, Carlos R, Mortier, Geert R, Ali, Houda, Bertola, Débora R, Calder, Alistair, Cohn, Daniel H, Cormier-Daire, Valerie, Girisha, Katta M, Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V Reid, Warman, Matthew L, and Superti-Furga, Andrea

Published
2023

20. Nosology of genetic skeletal disorders: 2023 revision

Author

Unger, Sheila, primary, Ferreira, Carlos R., additional, Mortier, Geert R., additional, Ali, Houda, additional, Bertola, Débora R., additional, Calder, Alistair, additional, Cohn, Daniel H., additional, Cormier‐Daire, Valerie, additional, Girisha, Katta M., additional, Hall, Christine, additional, Krakow, Deborah, additional, Makitie, Outi, additional, Mundlos, Stefan, additional, Nishimura, Gen, additional, Robertson, Stephen P., additional, Savarirayan, Ravi, additional, Sillence, David, additional, Simon, Marleen, additional, Sutton, V. Reid, additional, Warman, Matthew L., additional, and Superti‐Furga, Andrea, additional

Published
2023
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22. Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Author

Luks, Valerie L., Kamitaki, Nolan, Vivero, Matthew P., Uller, Wibke, Rab, Rashed, Bovée, Judith V.M.G., Rialon, Kristy L., Guevara, Carlos J., Alomari, Ahmad I., Greene, Arin K., Fishman, Steven J., Kozakewich, Harry P.W., Maclellan, Reid A., Mulliken, John B., Rahbar, Reza, Spencer, Samantha A., Trenor, Cameron C., III, Upton, Joseph, Zurakowski, David, Perkins, Jonathan A., Kirsh, Andrew, Bennett, James T., Dobyns, William B., Kurek, Kyle C., Warman, Matthew L., McCarroll, Steven A., and Murillo, Rudy

Published
2015
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25. Induced superficial chondrocyte death reduces catabolic cartilage damage in murine posttraumatic osteoarthritis

Author

Zhang, Minjie, Mani, Sriniwasan B., He, Yao, Hall, Amber M., Xu, Lin, Li, Yefu, Zurakowski, David, Jay, Gregory D., and Warman, Matthew L.

Subjects
Cells -- Aging, Cartilage cells -- Physiological aspects, Osteoarthritis -- Development and progression, Health care industry
Abstract

Joints that have degenerated as a result of aging or Injury contain dead chondrocytes and damaged cartilage. Some studies have suggested that chondrocyte death precedes cartilage damage, but how the loss of chondrocytes affects cartilage integrity is not clear. In this study, we examined whether chondrocyte death undermines cartilage integrity in aging and injury using a rapid 3D confocal cartilage imaging technique coupled with standard histology. We induced autonomous expression of diphtheria toxin to kill articular surface chondrocytes in mice and determined that chondrocyte death did not lead to cartilage damage. Moreover, cartilage damage after surgical destabilization of the medial meniscus of the knee was increased in mice with intact chondrocytes compared with animals whose chondrocytes had been killed, suggesting that chondrocyte death does not drive cartilage damage in response to injury. These data imply that chondrocyte catabolism, not death, contributes to articular cartilage damage following injury. Therefore, therapies targeted at reducing the catabolic phenotype may protect against degenerative joint disease., Introduction Articular cartilage plays a crucial role in joint motion and load transmission (1, 2). The most common disease of articular cartilage, osteoarthritis, affects millions of humans and is a [...]

Published
2016
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38. Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Author

Neilson, Derek E., Adams, Mark D., Orr, Caitlin M.D., Schelling, Deborah K., Eiben, Robert M., Kerr, Douglas S., Anderson, Jane, Bassuk, Alexander G., Bye, Ann M., Childs, Anne-Marie, Clarke, Antonia, Crow, Yanick J., Di Rocco, Maja, Dohna-Schwake, Christian, Dueckers, Gregor, Fasano, Alfonso E., Gika, Artemis D., Gionnis, Dimitris, Gorman, Mark P., Grattan-Smith, Padraic J., Hackenberg, Annette, Kuster, Alice, Lentschig, Markus G., Lopez-Laso, Eduardo, Marco, Elysa J., Mastroyianni, Sotiria, Perrier, Julie, Schmitt-Mechelke, Thomas, Servidei, Serenella, Skardoutsou, Angeliki, Uldall, Peter, van der Knaap, Marjo S., Goglin, Karrie C., Tefft, David L., Aubin, Cristin, de Jager, Philip, Hafler, David, and Warman, Matthew L.

Published
2009
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42. Lrp5 functions in bone to regulate bone mass

Author

Cui, Yajun, Niziolek, Paul J., MacDonald, Bryan T., Zylstra, Cassandra R., Alenina, Natalia, Robinson, Daniel R., Zhong, Zhendong, Matthes, Susann, Jacobsen, Christina M., Conlon, Ronald A., Brommage, Robert, Liu, Qingyun, Mseeh, Faika, Powell, David R., Yang, Qi.M., Zambrowicz, Brian, Gerrits, Han, Gossen, Jan A., He, Xi, Bader, Michael, Williams, Bart O., Warman, Matthew L., and Robling, Alexander G.

Subjects
Gene mutations -- Health aspects -- Research, Osteoporosis -- Risk factors -- Genetic aspects -- Research, Bones -- Density, Biological sciences, Health
Abstract

The human skeleton is affected by mutations in low-density lipoprotein receptor-related protein 5 (LRP5). To understand how LRP5 influences bone properties, we generated mice with osteocyte-specific expression of inducible Lrp5 mutations that cause high and low bone mass phenotypes in humans. We found that bone properties in these mice were comparable to bone properties in mice with inherited mutations. We also induced an Lrp5 mutation in cells that form the appendicular skeleton but not in cells that form the axial skeleton; we observed that bone properties were altered in the limb but not in the spine. These data indicate that Lrp5 signaling functions locally, and they suggest that increasing LRP5 signaling in mature bone cells may be a strategy for treating human disorders associated with low bone mass, such as osteoporosis., The skeleton is influenced by environmental, genetic, neurologic, endocrine, paracrine and autocrine factors. Efforts to identify pathways that affect bone health have been facilitated by genetic studies in individuals with [...]

Published
2011

43. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

Author

Smits, Patrick, Bolton, Andrew D., Funari, Vincent, Minh Hong, Boyden, Eric D., Lei Lu, Manning, Danielle K., Dwyer, Noelle D., Moran, Jennifer L., Prysak, Mary, Merriman, Barry, Nelson, Stanley F., Bonafe, Luisa, Superti-Furga, Andrea, Shrio Ikegawa, Krakow, Deborah, Cohn, Daniel H., Kirchhausen, Tom, Warman, Matthew L., and Beier, David R.

Subjects
Lethal mutation -- Health aspects, Aphasia -- Genetic aspects, Bones -- Abnormalities, Bones -- Genetic aspects
Abstract

The study aims to evaluate the relationship between the golgin GMAP-210 and lethal skeletal dysphasia in mice and humans. The results indicate that an association does exist between the two and that the absence of GMAP-210 predominantly affects the development of the skeletal system.

Published
2010

47. The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling

Author

Nakamura, Yukio, Weidinger, Gilbert, Liang, Jennifer O., Aquilina-Beck, Allisan, Tamai,Keiko, Moon, Randall T., and Warman, Matthew L.

Subjects
Dysplasia -- Risk factors, Dysplasia -- Genetic aspects, Dysplasia -- Research, Gene mutations -- Complications and side effects, Gene mutations -- Research, Cell metabolism -- Research, Cell metabolism -- Genetic aspects
Abstract

In humans, loss-of-function mutations in the gene encoding Wnt1 inducible signaling pathway protein 3 (WISP3) cause the autosomal-recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD). However, in mice there is no [...]

Published
2007

48. Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice

Author

Clement-Lacroix, Philippe, Ai, Minrong, Morvan, Frederic, Roman-Roman, Sergio, Vayssiere, Beatrice, Belleville, Cecille, Estrera, Kenneth, Warman, Matthew L., Baron, Roland, and Rawadi, Georges

Subjects
Osteoporosis -- Research, Osteoporosis -- Care and treatment, Protein kinases -- Research, Science and technology
Abstract

One of the well characterized cell biologic actions of lithium is the inhibition of glycogen synthase kinase-3[beta] and the consequent activation of canonical Wnt signaling. Because deficient Wnt signaling has been implicated in disorders of reduced bone mass, we tested whether lithium could improve bone mass in mice. We gavage-fed lithium chloride to 8-week-old mice from three different strains (Lrp[5.sup.-/-], SAMP6, and C57BL/6) and assessed the effect on bone metabolism after 4 weeks of therapy. Lrp[5.sup.-/-] mice lack the Wnt coreceptor low-density lipoprotein receptor-related protein 5 and have markedly reduced bone mass. Lithium, which is predicted to act downstream of this receptor, restored bone metabolism and bone mass to near wild-type levels in these mice. SAMP6 mice have accelerated osteoporosis due to inadequate osteoblast renewal. Lithium significantly improved bone mass in these mice and in wild-type C57BL/6 mice, We found that lithium activated canonical Wnt signaling in cultured calvarial osteoblasts from Lrp[5.sup.-/-] mice ex vivo and that lithium-treated mice had increased expression of Wnt-responsive genes in their bone marrow cells in vivo. These data lead us to conclude that lithium enhances bone formation and improves bone mass in mice and that it may do so via activation of the canonical Wnt pathway. Lithium has been used safely and effectively for over half a century in the treatment of bipolar illness. Prospective studies in patients receiving lithium should determine whether it also improves bone mass in humans. anabolic | osteoporosis | therapy

Published
2005

50. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

Author

Bartels, Cynthia F., Bukulmez, Hulya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Gazali, Lihadh I. Al-, Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valerie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, and Warman, Matthew L.

Subjects
Peptides -- Research, Biological sciences
Published
2004

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