Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Samuel G. Cox"'
1
Histone H3.3 beyond cancer: Germline mutations in
Autor: Laura, Bryant, Dong, Li, Samuel G, Cox, Dylan, Marchione, Evan F, Joiner, Khadija, Wilson, Kevin, Janssen, Pearl, Lee, Michael E, March, Divya, Nair, Elliott, Sherr, Brieana, Fregeau, Klaas J, Wierenga, Alexandrea, Wadley, Grazia M S, Mancini, Nina, Powell-Hamilton, Jiddeke, van de Kamp, Theresa, Grebe, John, Dean, Alison, Ross, Heather P, Crawford, Zoe, Powis, Megan T, Cho, Marcia C, Willing, Linda, Manwaring, Rachel, Schot, Caroline, Nava, Alexandra, Afenjar, Davor, Lessel, Matias, Wagner, Thomas, Klopstock, Juliane, Winkelmann, Claudia B, Catarino, Kyle, Retterer, Jane L, Schuette, Jeffrey W, Innis, Amy, Pizzino, Sabine, Lüttgen, Jonas, Denecke, Tim M, Strom, Kristin G, Monaghan, Zuo-Fei, Yuan, Holly, Dubbs, Renee, Bend, Jennifer A, Lee, Michael J, Lyons, Julia, Hoefele, Roman, Günthner, Heiko, Reutter, Boris, Keren, Kelly, Radtke, Omar, Sherbini, Cameron, Mrokse, Katherine L, Helbig, Sylvie, Odent, Benjamin, Cogne, Sandra, Mercier, Stephane, Bezieau, Thomas, Besnard, Sebastien, Kury, Richard, Redon, Karit, Reinson, Monica H, Wojcik, Katrin, Õunap, Pilvi, Ilves, A Micheil, Innes, Kristin D, Kernohan, Gregory, Costain, M Stephen, Meyn, David, Chitayat, Elaine, Zackai, Anna, Lehman, Hilary, Kitson, Martin G, Martin, Julian A, Martinez-Agosto, Stan F, Nelson, Christina G S, Palmer, Jeanette C, Papp, Neil H, Parker, Janet S, Sinsheimer, Eric, Vilain, Jijun, Wan, Amanda J, Yoon, Allison, Zheng, Elise, Brimble, Giovanni Battista, Ferrero, Francesca Clementina, Radio, Diana, Carli, Sabina, Barresi, Alfredo, Brusco, Marco, Tartaglia, Jennifer Muncy, Thomas, Luis, Umana, Marjan M, Weiss, Garrett, Gotway, K E, Stuurman, Michelle L, Thompson, Kirsty, McWalter, Constance T R M, Stumpel, Servi J C, Stevens, Alexander P A, Stegmann, Kristian, Tveten, Arve, Vøllo, Trine, Prescott, Christina, Fagerberg, Lone Walentin, Laulund, Martin J, Larsen, Melissa, Byler, Robert Roger, Lebel, Anna C, Hurst, Joy, Dean, Samantha A, Schrier Vergano, Jennifer, Norman, Saadet, Mercimek-Andrews, Juanita, Neira, Margot I, Van Allen, Nicola, Longo, Elizabeth, Sellars, Raymond J, Louie, Sara S, Cathey, Elly, Brokamp, Delphine, Heron, Molly, Snyder, Adeline, Vanderver, Celeste, Simon, Xavier, de la Cruz, Natália, Padilla, J Gage, Crump, Wendy, Chung, Benjamin, Garcia, Hakon H, Hakonarson, Elizabeth J, Bhoj
Publikováno v: Science Advances
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9b935d757ea4c034c49b726ecd6f074d
https://pubmed.ncbi.nlm.nih.gov/33268356
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2
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Autor: Thomas Besnard, Kristian Tveten, Hilary F Kitson, Jennifer A. Lee, Brieana Fregeau, Rachel Schot, Khadija Wilson, Katrin Õunap, Juliane Winkelmann, Anna Lehman, Nicola Longo, Servi J. C. Stevens, Megan T. Cho, Christina G.S. Palmer, Causes Study, Giovanni Battista Ferrero, Joy Dean, Lone W. Laulund, Grazia M.S. Mancini, Matias Wagner, Martin G. Martin, Sabine Lüttgen, Elizabeth J. Bhoj, Amanda J. Yoon, Thomas Klopstock, Janet S. Sinsheimer, Eric Vilain, Sébastien Küry, Francesca Clementina Radio, Jiddeke M. van de Kamp, Cameron Mrokse, Hakon Hakonarson, Samuel G. Cox, Jeanette C. Papp, Margot I. Van Allen, Raymond J. Louie, Constance T. R. M. Stumpel, Evan F. Joiner, Juanita Neira, Arve Vøllo, Amy Pizzino, Kelly Radtke, Celeste Simon, Michelle L. Thompson, Allison Zheng, Omar Sherbini, Marcia C. Willing, Tim M. Strom, Benjamin Garcia, Sara S. Cathey, Theresa A. Grebe, Dong Li, Marjan M. Weiss, Marco Tartaglia, Laura M Bryant, Sandra Mercier, Katherine L. Helbig, Martin Jakob Larsen, Ddd Study, Alexandrea Wadley, Alexander P.A. Stegmann, Sabina Barresi, A. Micheil Innes, Elaine H. Zackai, Gregory Costain, Davor Lessel, Molly Snyder, Heather P. Crawford, Richard Redon, Pearl Lee, Melissa Byler, Holly Dubbs, J. Gage Crump, K. E. Stuurman, Boris Keren, Stéphane Bézieau, Stan F. Nelson, Kristin G. Monaghan, Michael J. Lyons, Jeffrey W. Innis, Anna C.E. Hurst, Elizabeth A. Sellars, Samantha A. Schrier Vergano, Saadet Mercimek-Andrews, Monica H. Wojcik, Alison Ross, Heiko Reutter, Zuo-Fei Yuan, Dylan M. Marchione, Renee Bend, Diana Carli, Zöe Powis, Neil H. Parker, Jennifer Muncy Thomas, Luis A. Umaña, Adeline Vanderver, Julia Hoefele, Linda Manwaring, Christina Fagerberg, Elly Brokamp, M. Stephen Meyn, Pilvi Ilves, Xavier de la Cruz, Nina Powell-Hamilton, Caroline Nava, Garrett Gotway, Karit Reinson, Kristin D. Kernohan, Jennifer Norman, Alexandra Afenjar, Benjamin Cogné, Delphine Héron, Roman Günthner, Alfredo Brusco, John Dean, Kevin A. Janssen, Robert Roger Lebel, Divya Nair, Jijun Wan, Julian A. Martinez-Agosto, Elliott H. Sherr, Kyle Retterer, Claudia B. Catarino, Michael E. March, Natalia Padilla, Elise Brimble, Sylvie Odent, Jane L. Schuette, David Chitayat, Klaas J. Wierenga, Kirsty McWalter, Trine Prescott, Jonas Denecke, Wendy K. Chung
Publikováno v: Science Advances, 6(49):eabc9207. American Association for the Advancement of Science
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, ' Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances, 6(49):9207. American Association for the Advancement of Science
Science advances, 6(49):eabc9207. American Association for the Advancement of Science
Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Sci. Adv. 6:106267 (2020)
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyz
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2c29be398973d47026c90ba29e60cd
https://doi.org/10.1126/sciadv.abc9207
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3
Akademický článek
An essential role of variant histone H3.3 for ectomesenchyme potential of the cranial neural crest.
Autor: Samuel G Cox, Hyunjung Kim, Aaron Timothy Garnett, Daniel Meulemans Medeiros, Woojin An, J Gage Crump
Publikováno v: PLoS Genetics, Vol 8, Iss 9, p e1002938 (2012)
The neural crest (NC) is a vertebrate-specific cell population that exhibits remarkable multipotency. Although derived from the neural plate border (NPB) ectoderm, cranial NC (CNC) cells contribute not only to the peripheral nervous system but also t
Externí odkaz: https://doaj.org/article/c2714175cae94aa0aed758663f1f7f12
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4
Essential role of Nr2f nuclear receptors in patterning the vertebrate upper jaw
Autor: Lisa Del Rio, Pauline Rataud, Kasra Behizad, Lindsey Barske, Samuel G. Cox, J. Gage Crump
Summary The jaw is central to the extensive variety of feeding and predatory behaviors across vertebrates. The bones of the lower but not upper jaw form around an early-developing cartilage template. Whereas Endothelin1 patterns the lower jaw, the fa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ff04723347896e5fc4374e3dbe923b
https://europepmc.org/articles/PMC5801120/
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6
Sexually dimorphic expression of secreted frizzled-related (SFRP) genes in the developing mouse Müllerian duct
Autor: Andy Greenfield, Lee B. Smith, Michael Cheeseman, Debora Bogani, Pam Siggers, Samuel G. Cox
Publikováno v: Cox, S, Smith, L, Bogani, D, Cheeseman, M, Siggers, P & Greenfield, A 2006, ' Sexually dimorphic expression of secreted frizzled-related (SFRP) genes in the developing mouse Mullerian duct ', Molecular Reproduction and Development, vol. 73, no. 8, pp. 1008-1016 . https://doi.org/10.1002/mrd.20507
In developing male embryos, the female reproductive tract primordia (Mullerian ducts) regress due to the production of testicular anti-Mullerian hormone (AMH). Because of the association between secreted frizzled-related proteins (SFRPs) and apoptosi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211e919a81cb5a0983b0139d5baa90fe
https://doi.org/10.1002/mrd.20507
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8
Surplus Zinc Is Handled by Zym1 Metallothionein and Zhf Endoplasmic Reticulum Transporter in Schizosaccharomyces pombe
Autor: Mark D. Harrison, Simon K. Whitehall, Samuel G. Cox, Gilles P.M. Borrelly, Andrea K. Robinson, Nigel J. Robinson
Publikováno v: Journal of Biological Chemistry. 277:30394-30400
Homeostatic mechanisms prevent the accumulation of free zinc in the cytoplasm, raising questions regarding where surplus zinc is stored and how it is delivered to and from these stores. A genetic screen for zinc hypersensitivity in Schizosaccharomyce
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f34c6583258923cbcb1bc869088b9ea6
https://doi.org/10.1074/jbc.m203145200
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9
An Essential Role of Variant Histone H3.3 for Ectomesenchyme Potential of the Cranial Neural Crest
Autor: Hyun-Jung Kim, Aaron T. Garnett, J. Gage Crump, Daniel Meulemans Medeiros, Woojin An, Samuel G. Cox
Publikováno v: PLoS Genetics
PLoS Genetics, Vol 8, Iss 9, p e1002938 (2012)
The neural crest (NC) is a vertebrate-specific cell population that exhibits remarkable multipotency. Although derived from the neural plate border (NPB) ectoderm, cranial NC (CNC) cells contribute not only to the peripheral nervous system but also t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c97aa45ce32279e7cde514648815cc9
http://europepmc.org/articles/PMC3447937
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