Zobrazeno 1 - 10
of 1 330
pro vyhledávání: '"A H Purcell"'
Autor:
Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders such as the
Externí odkaz:
https://doaj.org/article/e1441505fb324218b0dd9286ccd86457
Autor:
Rebecca M. Pollak, Ryan H. Purcell, Timothy P. Rutkowski, Tamika Malone, Kimberly J. Pachura, Gary J. Bassell, Michael P. Epstein, Paul A. Dawson, Matthew R. Smith, Dean P. Jones, Michael E. Zwick, Stephen T. Warren, Tamara Caspary, David Weinshenker, Jennifer G. Mulle
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and a high prevalence of feeding disorders in patients suggest underlying metabo
Externí odkaz:
https://doaj.org/article/45761d0ab5754763bcdb5445206f521b
Autor:
Esra Sefik, Ryan H. Purcell, The Emory 3q29 Project, Elaine F. Walker, Gary J. Bassell, Jennifer G. Mulle
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. However, no single gene in this interval is definitively associated with disease, prompting the hypothesis that neuropsyc
Externí odkaz:
https://doaj.org/article/6a57f308932e48f480cafc16e8693925
Autor:
Ronald E. Engle, Davide De Battista, Emily J. Danoff, Hanh Nguyen, Zhaochun Chen, Paolo Lusso, Robert H. Purcell, Patrizia Farci
Publikováno v:
mBio, Vol 11, Iss 6 (2020)
ABSTRACT Historical studies conducted in chimpanzees gave us the opportunity to investigate the basis for the different severities of liver damage and disease outcome associated with infection with wild-type hepatitis B virus (HBV) versus a precore H
Externí odkaz:
https://doaj.org/article/768f688d197d4431af1bcf8b0fad35a4
Autor:
Zhaochun Chen, Ronald E Engle, Chen-Hsiang Shen, Huaying Zhao, Peter W Schuck, Emily J Danoff, Hanh Nguyen, Norihisa Nishimura, Kevin W Bock, Ian N Moore, Peter D Kwong, Robert H Purcell, Sugantha Govindarajan, Patrizia Farci
Publikováno v:
PLoS Pathogens, Vol 16, Iss 8, p e1008793 (2020)
Transmission to chimpanzees of a precore hepatitis B virus (HBV) mutant implicated in acute liver failure (ALF) in humans did not cause ALF nor the classic form of acute hepatitis B (AHB) seen upon infection with the wild-type HBV strain, but rather
Externí odkaz:
https://doaj.org/article/5612fb1e37e748f7a7ed1136e5a4617d
Publikováno v:
Journal of Neuroinflammation, Vol 14, Iss 1, Pp 1-10 (2017)
Abstract Background Sphingosine 1-phosphate (S1P) signals through G protein-coupled receptors to elicit a wide range of cellular responses. In CNS injury and disease, the blood-brain barrier is compromised, causing leakage of S1P from blood into the
Externí odkaz:
https://doaj.org/article/3f520184a7ad48c68af6f97ad654d349
Autor:
KyeongJin Kim, Li Qiang, Matthew S. Hayden, David P. Sparling, Nicole H. Purcell, Utpal B. Pajvani
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
The protein raptor is a subunit of the mTORC signalling complex. Here the authors show that Raptor also exists in a free form, unbound to mTORC, and that this free Raptor negatively regulates hepatic Akt activity and lipid metabolism in mice via a me
Externí odkaz:
https://doaj.org/article/4557982e90754044bc5dda4f28d8a993
Autor:
Ryan H. Purcell, Esra Sefik, Erica Werner, Alexia T. King, Trenell J. Mosley, Megan E. Merritt-Garza, Pankaj Chopra, Zachary T. McEachin, Sridhar Karne, Nisha Raj, Brandon J. Vaglio, Dylan Sullivan, Bonnie L. Firestein, Kedamawit Tilahun, Maxine I. Robinette, Stephen T. Warren, Zhexing Wen, Victor Faundez, Steven A. Sloan, Gary J. Bassell, Jennifer G. Mulle
Publikováno v:
bioRxiv
Recent advances in the genetics of schizophrenia (SCZ) have identified rare variants that confer high disease risk, including a 1.6 Mb deletion at chromosome 3q29 with a staggeringly large effect size (O.R. > 40). Understanding the impact of the 3q29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bfeb2ef48fe4d6982c802522e1c6ed
https://europepmc.org/articles/PMC9901184/
https://europepmc.org/articles/PMC9901184/
Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: 'We Can't Just Wish This Thing Away'
Autor:
Gary J. Bassell, Ryan H. Purcell, Melissa M. Murphy, Jennifer G. Mulle, Emory q, Megan R Glassford, Sarah Pass
Publikováno v:
J Dev Behav Pediatr
Objective Genetic diagnoses are increasingly common in cases of intellectual disability and developmental delay. Although ascertainment of a relatively common, well-studied variant may provide guidance related to treatments and developmental expectat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336249feea29f6498eb69d949bd468a2
https://doi.org/10.1097/dbp.0000000000000977
https://doi.org/10.1097/dbp.0000000000000977
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-14 (2021)
Translational Psychiatry
Translational Psychiatry
The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. However, no single gene in this interval is definitively associated with disease, prompting the hypothesis that neuropsychiatric s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8e36cdb5f308f40fb3fcff231cddf15
https://doaj.org/article/6a57f308932e48f480cafc16e8693925
https://doaj.org/article/6a57f308932e48f480cafc16e8693925