Zobrazeno 1 - 10
of 556
pro vyhledávání: '"Charles E, Schwartz"'
Autor:
Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 4 (2023)
Externí odkaz:
https://doaj.org/article/c0a757e69bd44ff28873ec2e013dc8c8
The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise an
Autor:
Julianne Michael, Elizabeth VanSickle, Marlie Vipond, Abby Dalman, Jeremy Prokop, Charles E. Schwartz, Surender Rajasekaran, André S. Bachmann, Magalie Barth, Clément Prouteau, Yotam Almagor, Lina Berkun, Gheona Alterescu, Caleb P. Bupp
Publikováno v:
Medical Sciences, Vol 11, Iss 2, p 29 (2023)
Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discove
Externí odkaz:
https://doaj.org/article/6c50033ad1b24e8d863ee9b47432b374
Autor:
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A. Thompson, Mercedes Pardo, Lu Yu, Joy W. Norris, Yunhui Peng, Karen W. Gripp, Kirk A. Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid M. Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knock
Externí odkaz:
https://doaj.org/article/63052a3b677a4732a00742387ae8a8ff
Autor:
Yubin Guo, Qing Ye, Pan Deng, Yanan Cao, Daheng He, Zhaohe Zhou, Chi Wang, Yekaterina Y. Zaytseva, Charles E. Schwartz, Eun Y. Lee, B. Mark Evers, Andrew J. Morris, Side Liu, Qing-Bai She
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Polyamine metabolism is frequently dysregulated in cancers. Here, the authors show that a polyamine biosynthetic enzyme, spermine synthase, is overexpressed in colorectal cancers and cooperates with MYC to prevent cancer cell apoptosis by repression
Externí odkaz:
https://doaj.org/article/3b2da2db381e4fd0ae6f0d0669ca275b
Autor:
Sujata Srikanth, Lauren Cascio, Rini Pauly, Kelly Jones, Skylar Sorrow, Rossana Cubillan, Chin-Fu Chen, Cindy D. Skinner, Kevin Champaigne, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Publikováno v:
Data in Brief, Vol 39, Iss , Pp 107598- (2021)
Experiments employing the Phenotype Mammalian Microarray (PM-M) technology were performed on lymphoblastoid cell lines (LCLs) from individuals with autism spectrum disorder (ASD) and age-matched controls. We used the custom-made PM-M plate designed t
Externí odkaz:
https://doaj.org/article/1e46527825824faaabfb3f47fd12c4dc
Autor:
Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that
Externí odkaz:
https://doaj.org/article/663adb56ce6f405da787645af9303af8
Autor:
Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized
Externí odkaz:
https://doaj.org/article/57a3f24470ab45e9a3daea857bcee71b
Autor:
Rossana Aprigliano, Merdane Ezgi Aksu, Stefano Bradamante, Boris Mihaljevic, Wei Wang, Kristin Rian, Nicola P. Montaldo, Kayla Mae Grooms, Sarah L. Fordyce Martin, Diana L. Bordin, Matthias Bosshard, Yunhui Peng, Emil Alexov, Cindy Skinner, Nina-Beate Liabakk, Gareth J. Sullivan, Magnar Bjørås, Charles E. Schwartz, Barbara van Loon
Publikováno v:
Cell Reports Medicine, Vol 2, Iss 4, Pp 100240- (2021)
Summary: Essential E3 ubiquitin ligase HUWE1 (HECT, UBA, and WWE domain containing 1) regulates key factors, such as p53. Although mutations in HUWE1 cause heterogenous neurodevelopmental X-linked intellectual disabilities (XLIDs), the disease mechan
Externí odkaz:
https://doaj.org/article/b8557ff56ac14f5fb273cea9a18c581c
Autor:
Christopher Ronald Funk, Elizabeth S. Huey, Melanie M. May, Yunhui Peng, Ekaterina Michonova, Robert G. Best, Charles E. Schwartz, Anna V. Blenda
Publikováno v:
Journal of International Medical Research, Vol 48 (2020)
Objective Split-hand/foot malformation (SHFM) is a rare, often debilitating, congenital limb malformation. A single nucleotide polymorphism within the leucine zipper containing kinase AZK ( ZAK ) gene was recently associated with SHFM in two consangu
Externí odkaz:
https://doaj.org/article/ee4a7c91dfc04162ac5b53ad3511b86d