Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Erin Cooney"'
Autor:
Andrea L Wirtz, Tonia Poteat, Annick Borquez, Sabriya Linton, Megan Stevenson, James Case, Carter Brown, Arianna Lint, Marissa Miller, Asa Radix, Keri N Althoff, Jason S Schneider, J Sonya Haw, Andrew J Wawrzyniak, Allan Rodriguez, Erin Cooney, Elizabeth Humes, Ceza Pontes, Shannon Seopaul, Camille White, Chris Beyrer, Sari L Reisner
Publikováno v:
JMIR Research Protocols, Vol 13, p e59846 (2024)
BackgroundIn the United States, transgender women are disproportionately impacted by HIV and prioritized in the national strategy to end the epidemic. Individual, interpersonal, and structural vulnerabilities underlie HIV acquisition among transgende
Externí odkaz:
https://doaj.org/article/3ef66b8c8cd6413b8fe3d74d20ddd7df
Autor:
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio
Externí odkaz:
https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6
Autor:
Caide Bier, Kaelin Dickey, Hans Andersson, Markey McNutt, Danielle Vice, Erin Cooney, Megan Morand, Joseph Ray, Rebecca Sponberg, Richard Chang, Monica Boyer, Brittan Bibb, Angela Crutcher, Melissa Lah, Laura Davis-Keppen, Cindy Matthes
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100878- (2024)
Externí odkaz:
https://doaj.org/article/4061813e303549e2848fd3b23fc9c1a9
Autor:
Gabrielle C. Manno, Gabrielle S. Segal, Alexander Yu, Fangling Xu, Joseph W. Ray, Erin Cooney, Allison D. Britt, Sunil K. Jain, andall M. Goldblum, Sally S. Robinson, Jianli Dong
Publikováno v:
AIMS Molecular Science, Vol 8, Iss 4, Pp 257-274 (2021)
Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency and velopharyngeal insufficiency, developmental delay, intellectual disability, cognitiv
Externí odkaz:
https://doaj.org/article/198067f2ffd149eab29911c70956c63c
Autor:
Kelly Lamiman, Vasilis Mavratsas, Tanvi Gupta, Erin Cooney, Toy G. Lee, Claire Cummins, Brendan Gorman, Jonathan Gerber, Ravi Radhakrishnan
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 75, Iss , Pp 102045- (2021)
Kagami-Ogata syndrome (KOS) is a rare genomic imprinting disorder of chromosome 14 with characteristic facial features, a small, bell-shaped thorax, muscular hypotonia, and abdominal wall defects. We present a case of a kidney incarcerated in a poste
Externí odkaz:
https://doaj.org/article/f7a9d4584ace4d0a8b408c8dede4de9b
Autor:
Claudia Soler-Alfonso, Nishita Pillai, Erin Cooney, Krupa R. Mysore, Suzanne Boyer, Fernando Scaglia
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Early recognition of rare mitochondrial respiratory chain defects has become readily available with the routine use of whole exome sequencing. Patients with oxidative phosphorylation defects present with a heterogenous phenotype, often rapidly progre
Externí odkaz:
https://doaj.org/article/17f52bbc00b142e288c8d32dcc1c0322
Publikováno v:
Journal of Clinical and Translational Science, Vol 2, Pp 76-76 (2018)
OBJECTIVES/SPECIFIC AIMS: Gender affirmation is a critical aspect of the health and well-being of transgender individuals. For many transgender people, this includes changing one’s physical appearance to align with one’s felt gender. Some gender-
Externí odkaz:
https://doaj.org/article/37b1e543b7f14ad796d7726c773b67ea
Publikováno v:
American Journal of Medical Genetics Part A. 188:3546-3549
Autor:
Andrea Wirtz, Jason Schneider, Megan Stevenson, Erin Cooney, Andrew Wawrzyniak, Christopher M Cannon
BACKGROUND The HIV epidemic disproportionately impacts transgender women in the United States. Cohort studies identify unique risks for affected populations, but use of facility-based methods may bias findings towards individuals living in research c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c0baf0a70086faf57438adb62cb1c25
https://doi.org/10.2196/preprints.29152
https://doi.org/10.2196/preprints.29152
Autor:
Andrea Wirtz, Kenneth Mayer, Keri Althoff, Chris Beyrer, Erin Cooney, Andrew Wawrzyniak, Allan Rodriguez
BACKGROUND In the United States, transgender women (TW) are disproportionately burdened by HIV infection. Cohort studies are needed to evaluate factors driving HIV acquisition among TW over time. These will require implementation strategies that are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::291a11c1e9f861fc8908ddc391c12abd
https://doi.org/10.2196/preprints.14704
https://doi.org/10.2196/preprints.14704