Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Audrey Schroeder"'
Autor:
Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S. Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica H. Wojcik, Jill A. Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K. George-Abraham, Catherine A. Buchanan, Andrea Hanson-Khan, Jonathan A. Bernstein, Aikaterini A. Nella, Wendy K. Chung, Vicky Brandt, Marko Jovanovic, Kimara L. Targoff, Hari Krishna Yalamanchili, Eric J. Wagner, Vincenzo A. Gennarino
Publikováno v:
Science Advances. 9
Alternative polyadenylation (APA) creates distinct transcripts from the same gene by cleaving the pre-mRNA at poly(A) sites that can lie within the 3′ untranslated region (3′UTR), introns, or exons. Most studies focus on APA within the 3′UTR; h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b46c2af7bbd8a720ad40632d3eacdb9
https://doi.org/10.1126/sciadv.ade4814
https://doi.org/10.1126/sciadv.ade4814
Autor:
Wenmiao Zhu, Chin-To Fong, Audrey Schroeder, Liesbeth Vossaert, John Lattier, Hongzheng Dai, Anh Dang
Publikováno v:
Molecular Genetics and Metabolism. 132:S93-S95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6d00d2b782e2ead2d521e29f2a9c252
https://doi.org/10.1016/s1096-7192(21)00227-4
https://doi.org/10.1016/s1096-7192(21)00227-4
Autor:
Ibrahim H. Kaya, Mehran Beiraghi Toosi, Peter Bauer, Farah Ashrafzadeh, Najmeh Ahangari, Stefan T. Arold, Aida M. Bertoli-Avella, Antonina Wojcik, Mohammad A. Al-Muhaizea, Kelly J. Cardona-Londoño, Meisam Babaei, Amber Begtrup, Nouriya Al-Sannaa, Dilek Colak, Elisa Cali, Ehsan Ghayoor Karimiani, Marian Y. Girgis, Obdulia Sanchez‐Lijarcio, Namik Kaya, Chin-To Fong, Marcelo Vargas, Shima Imannezhad, Tahsin Stefan Barakat, David Murphy, Audrey Schroeder, Paria Najarzadeh Torbati, Henry Houlden, Anita Nikoncuk, Kristina Lanko, Belén Pérez, Salvador Ibáñez-Mico, Reza Maroofian, Mohammad Doosti, Tainá Regina Damaceno Silveira, Ruizhi Deng, Eva Medico Salsench
Publikováno v:
Brain
Brain, 144(10):e86. Oxford University Press
Brain, 144(10):e86. Oxford University Press
Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efae46cdc8615222297b8bde004f2ab1
https://doi.org/10.1093/brain/awab297
https://doi.org/10.1093/brain/awab297
Autor:
Audrey Schroeder, Bin Zhang, M. Anwar Iqbal, Chin-To Fong, Caroline Miller, Benjamin G Gertsen
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-8 (2021)
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-8 (2021)
Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9879e8ca120b47db86bd6c19052215d3
http://europepmc.org/articles/PMC8496034
http://europepmc.org/articles/PMC8496034
Autor:
Jonathan N. Dodd, Marwan Shinawi, Katherine L. Helbig, Arelis Martir-Negron, Linda Manwaring, Audrey Schroeder, Gabriel C. Araujo, Cori DeSanto, Jane Juusola, Ddd Study, Bethany Friedman, Vivian Pan, Nora Shannon, Rhonda E. Schnur, Zhiyv Niu, April Rahrig, Kristin G. Monaghan, Patrik Vitazka, Hilary J. Vernon, Kristin D'Aco, Sha Tang
Publikováno v:
Journal of Medical Genetics. 52:754-761
Background Rare de novo mutations have been implicated as a significant cause of idiopathic intellectual disability. Large deletions encompassing 10p11.23 have been implicated in developmental delay, behavioural abnormalities and dysmorphic features,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9a3381c15f14541216f3710f056a82
https://doi.org/10.1136/jmedgenet-2015-103069
https://doi.org/10.1136/jmedgenet-2015-103069
Autor:
John J. Kelly, Kara L. Levine, Audrey Schroeder, Silvia Penuela, Qing Shao, Kristin Lindstrom, Dale W. Laird, Ruoyang Shi, Michael F. Jackson, Jane Juusola, Jessica L. Esseltine
Publikováno v:
Anatomy and Cell Biology Publications
© 2016 by The American Society for Biochemistry and Molecular Biology, Inc. Pannexin1 (PANX1) is probably best understood as an ATP release channel involved in paracrine signaling. Given its ubiquitous expression, PANX1 pathogenic variants would be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2021ec8bb60ece33668315138fca95
https://europepmc.org/articles/PMC4933456/
https://europepmc.org/articles/PMC4933456/
Publikováno v:
Journal of Offender Rehabilitation. 26:111-125
A brief psychoeducational program was developed to treat men charged in criminal court with soliciting sex from female prostitutes. This paper outlines the major components of the program, details a demographic description of the court referred clien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d50f45c34d84ee14727ddd23ab0229e6
https://doi.org/10.1300/j076v26n03_06
https://doi.org/10.1300/j076v26n03_06