Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Michele Yang"'
Autor:
Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.
Externí odkaz:
https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7
Autor:
Melanie L. Leitner, Kush Kapur, Basil T. Darras, Michele Yang, Brenda Wong, Laura Dalle Pazze, Julaine Florence, Martin Buck, Laura Freedman, Jose Bohorquez, Seward Rutkove, Craig Zaidman
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 4-14 (2020)
Abstract Objective To evaluate the sensitivity of electrical impedance myography (EIM) to disease progression in both ambulatory and non‐ambulatory boys with DMD. Methods and Participants A non‐blinded, longitudinal cohort study of 29 ambulatory
Externí odkaz:
https://doaj.org/article/0f3e4106a6a4413997711be74d88d6bd
Autor:
Daniel P. Reay, Michele Yang, Jon F. Watchko, Molly Daood, Terrence L. O'Day, Khaleel K. Rehman, Denis C. Guttridge, Paul D. Robbins, Paula R. Clemens
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 3, Pp 598-608 (2011)
The activation of nuclear factor κB (NF-κB) contributes to muscle degeneration that results from dystrophin deficiency in human Duchenne muscular dystrophy (DMD) and in the mdx mouse. In dystrophic muscle, NF-κB participates in inflammation and fa
Externí odkaz:
https://doaj.org/article/b947cc89c36849c3b6a850797fd6a5b6
Autor:
Danielle C. Lynch, Jia Wang, Aurora Pujol, Henry Houlden, Diana Castro, Xiaodong Wang, Jan Senderek, Shade B. Moody, Melissa Gibbons, Tim M. Strom, Abigail Collins, Jong Hee Chae, John Landers, Udai Bhan Pandey, Tyler R. Fortuna, Reza Maroofian, Hannah R. McCurry, Andrea H. Németh, Yuehua Zhang, Nathalie Boddaert, Carsten G. Bönnemann, Sabine Rudnik-Schöneborn, Vincent Cantagrel, Kali Juliette, Jeanne Amiel, Amber Begtrup, Sangmoon Lee, David Schorling, Chanika Phornphutkul, Konrad Platzer, E. Corina Andriescu, Roser Urreizti, Eric N. Anderson, Cyril Gitiaux, Randal Richardson, Maha S. Zaki, Matias Wagner, Hasnaa M. Elbendary, Dhivyaa Rajasundaram, Brian Kirmse, Murim Choi, Sandra Donkervoort, Joseph G. Gleeson, Steffen Leiz, Mahmoud Y. Issa, Valentina Stanley, Patrick Frosk, Siri Lynne Rydning, Karine Siquier, Janbernd Kirschner, Sameer Agnihotri, Sarah S. Barnett, Isabelle Desguerre, Michele Yang, Yong Beom Shin, Deepa S. Rajan, Margot A. Cousin, Andrés Nascimento Osorio, A. Micheil Innes, Ying Yang, Elliot S. Stolerman, Youngha Lee, Kimberly McDonald, Alberto Garcia-Oguiza, Edgard Verdura, Caroline Ward, Maria J. Guillen Sacoto, Minghui Wang, Sukhleen Kour, Kaja Kristine Selmer
Publikováno v:
NATURE COMMUNICATIONS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Communications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Communications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 a
Autor:
Michele Yang, Tsz-Yin So
Publikováno v:
Clinical Pediatrics. 53:326-330
Increased reports of serious adverse events in young children have led to numerous investigations of its therapeutic role in the pediatric population. A review of the literature has shown limited support of its use in young children, with the majorit
Autor:
Michele Yang, Ganesh B. Bhat, Jacqui Elizabeth Hoffman, Andrea Fanjul, Stan Kupchinsky, Jacques Ermolieff, Klaus Ruprecht Dress, Cheng Hengmiao, Phuong Le, Jean Joo Matthews, Sajiv Krishnan Nair, Paul A. Rejto, T.A. Pauly, Evan Walters, Jocelyn Herrera, Christopher Ronald Smith, Martin Paul Edwards, Bridget Mccarthy Cole, Christine Loh, Cripps Stephan James, Natilie Hosea, Paderes Genevieve Deguzman
Publikováno v:
Bioorganic & Medicinal Chemistry Letters. 20:2897-2902
The design and development of a series of highly selective pyrrolidine carboxamide 11β-HSD1 inhibitors are described. These compounds including PF-877423 demonstrated potent in vitro activity against both human and mouse 11β-HSD1 enzymes. In an in
Autor:
Tatlock John H, Cristina Lewis, Mel Abreo, Stephanie T. Shi, Michele Yang, Shella A. Fuhrman, Heather Skor, Sarah Ludlum, Tanya Michelle Jewell, Mike Goble, Angelica Linton, Julie Blazel, Allen J. Borchardt, Ravi Rahavendran, Hui Li, Javier Gonzalez, Matthew Drowns, Leena Patel
Publikováno v:
Journal of Medicinal Chemistry. 50:3969-3972
The discovery and optimization of a novel class of carbon-linked dihydropyrones as allosteric HCV NS5B polymerase inhibitors are presented. Replacement of the sulfur linker atom with carbon reduced compound acidity and greatly increased cell permeati
Autor:
Molly M. Lamb, Nancy A. West, Lijing Ouyang, Michele Yang, David Weitzenkamp, Katherine James, Emma Ciafaloni, Shree Pandya, Carolyn DiGuiseppi, Chris Cunniff, John Meaney, Jennifer Andrews, Kathleen Pettit, Sydney Pettygrove, Lisa Miller, Dennis Matthews, April Montgomery, Jennifer Donnelly, Julie Bolen, Natalie Street, Bobby Lyles, Sylvia Mann, Paul Romitti, Katherine Mathews, Kristin Caspers Conway, Soman Puzhankara, Florence Foo, Christina Westfield, Charlotte Druschel, Kim Campbell, Deborah Fox
Publikováno v:
The Journal of pediatrics. 173
Objectives To evaluate growth patterns of ambulatory males with Duchenne muscular dystrophy (DMD) treated with corticosteroids compared with ambulatory, steroid-naive males with DMD and age-matched unaffected general-population males and to test asso
Autor:
Donatella Giovannini, Anne Claire Richard, Michele Yang, François Boller, Pasquale Striano, Brent L. Fogel, Didier Hannequin, Uriel López-Sánchez, Marc Sitbon, Olivier Vanakker, Cyril Goizet, Marja W. Wessels, Gaël Nicolas, João Ricardo Mendes de Oliveira, Suppachok Wetchaphanphesat, María Jesús Sobrido, Jérémie Pariente, Sheila A Simpson, Cristina Castro-Fernández, Eliana Marisa Ramos, Witoon Mitarnun, Giovanni Coppola, Suppachok Kirdlarp, Elizabeth Spiteri, Vivek K. Unni, Henry L. Paulson, Beatriz Quintáns, Daniel H. Geschwind, François Tison, Dominique Campion, Anthony E. Lang, Zosia Miedzybrodzka, Martin Paucar, Per Svenningsson, Jean-Luc Battini, Joanna C. Jen, Andrea Legati, Stéphanie Cubizolle, Renee L. Sears, Angel Carracedo, Naomi Salins
Publikováno v:
Legati, A; Giovannini, D; Nicolas, G; López-Sánchez, U; Quintáns, B; Oliveira, JRM; et al.(2015). Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature Genetics. doi: 10.1038/ng.3289. UCLA: Retrieved from: http://www.escholarship.org/uc/item/5zw381mr
Nature Genetics
Nature Genetics, 2015, 47 (6), pp.579--81. ⟨10.1038/ng.3289ng.3289[pii]⟩
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Nature Genetics, Nature Publishing Group, 2015, 47 (6), pp.579-581. ⟨10.1038/ng.3289⟩
Nature genetics, vol 47, iss 6
Nature Genetics, 47(6), 579-581. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2015, 47 (6), pp.579--81. ⟨10.1038/ng.3289ng.3289[pii]⟩
Nature Genetics
Nature Genetics, 2015, 47 (6), pp.579--81. ⟨10.1038/ng.3289ng.3289[pii]⟩
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Nature Genetics, Nature Publishing Group, 2015, 47 (6), pp.579-581. ⟨10.1038/ng.3289⟩
Nature genetics, vol 47, iss 6
Nature Genetics, 47(6), 579-581. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2015, 47 (6), pp.579--81. ⟨10.1038/ng.3289ng.3289[pii]⟩
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db348d771015ce775555943c85733741
http://www.escholarship.org/uc/item/5zw381mr
http://www.escholarship.org/uc/item/5zw381mr
Autor:
Yong, Zhu, Paul A, Romitti, Kristin M, Caspers Conway, Sunkyung, Kim, Ying, Zhang, Michele, Yang, Katherine D, Mathews
Publikováno v:
Musclenerve. 52(1)
Genitourinary (GU) health among patients with Duchenne and Becker muscular dystrophies (DBMD) has not been explored using population-based data.Medical records of 918 males ascertained by the Muscular Dystrophy Surveillance, Tracking, and Research Ne