Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Joshua A. Suhl"'
Autor:
Joshua A. Suhl, Stephen T. Warren
Publikováno v:
Journal of Experimental Neuroscience, Vol 2015, Iss Suppl. 2, Pp 35-41 (2015)
Externí odkaz:
https://doaj.org/article/0186adcd2d754d3a872ecc68d4ef8fa3
Autor:
Joshua A. Suhl, Stephen T. Warren
Publikováno v:
Journal of Experimental Neuroscience, Vol 9s2 (2015)
Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have
Externí odkaz:
https://doaj.org/article/385d9bd916cf4561b59aff899de8c53f
Publikováno v:
Nucleic Acids Research
Fragile X mental retardation protein (FMRP) is a multifunctional RNA-binding protein with crucial roles in neuronal development and function. Efforts aimed at elucidating how FMRP target mRNAs are selected have produced divergent sets of target mRNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4cf628ec8bd48afa4d2f15d4d5b9ff9
https://doi.org/10.1093/nar/gkw593
https://doi.org/10.1093/nar/gkw593
Autor:
Mickael Poidevin, Valeria Cavalli, Pan Yue Deng, Joshua A. Suhl, Stephen T. Warren, Hideharu Hashimoto, Xiaodong Cheng, Yongcheol Cho, Leila K. Myrick, Peng Jin, Vitaly A. Klyachko, Young Mi Oh, Jeannie Visootsak
Publikováno v:
Proceedings of the National Academy of Sciences. 112:949-956
Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07d9da07c0055a5f72bd7928a75b252
https://doi.org/10.1073/pnas.1423094112
https://doi.org/10.1073/pnas.1423094112
Autor:
Charles A. Hoeffer, Joshua A. Suhl
Fragile X mental retardation protein (FMRP), the protein that is absent or dysfunctional in fragile X syndrome (FXS), is a multifunctional binding protein that associates with mRNAs and proteins in the brain. The loss of FMRP results in a number of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::913d16797428ed8bcabf90521cf9d128
https://doi.org/10.1016/b978-0-12-804461-2.00008-1
https://doi.org/10.1016/b978-0-12-804461-2.00008-1
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 10, p e0165499 (2016)
PLoS ONE, Vol 11, Iss 10, p e0165499 (2016)
Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing. Epigenetic modifying drugs can only transiently and modestly ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e970383df86c5cb57fe1849d1c23d62
http://europepmc.org/articles/PMC5074572
http://europepmc.org/articles/PMC5074572
Autor:
Bradford Coffee, Steven M. Bray, Joshua A. Suhl, David J. Cutler, Stephen T. Warren, Stephen C. Collins, Michael E. Zwick
Publikováno v:
American Journal of Medical Genetics Part A. :2512-2520
Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled-template massively p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed24f977632eb7bf2510fa6a5a94a28
https://doi.org/10.1002/ajmg.a.33626
https://doi.org/10.1002/ajmg.a.33626
Autor:
Daniel W. Rosenberg, Charles Giardina, Joshua A. Suhl, Colleen C. Spurling, Craig E. Nelson, Nathalie Boucher
Publikováno v:
Nutrition and Cancer. 60:692-702
It has been proposed that cancer prevention results from multiple dietary agents acting together as "action packages." Here we obtain evidence that butyrate, which is generated from dietary fiber, enhances the responsiveness of colon cancer cells to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::001974bcbf9a5ac5f80e89ed30856269
https://doi.org/10.1080/01635580802008278
https://doi.org/10.1080/01635580802008278
Autor:
Elaine H. Zackai, Jurgen Del-Favero, Joshua A. Suhl, Geert Mortier, Beverly S. Emanuel, Jeroen Van Houdt, Stephen T. Warren, Koenraad Devriendt, Joris Vermeesch, Ann Swillen, Donna M. McDonald-McGinn, Raquel E. Gur, Luc Dehaspe, Matthew S. Hestand, Beata Nowakowska, Elfi Vergaelen
Publikováno v:
Human genome variation
Human Genome Variation
Human Genome Variation
The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the non-deleted allele we performed targeted resequencing of the 22q11.2 region for 127 patients, identifying m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b97bce473c6a2c23eded3abd70efa5
https://lirias.kuleuven.be/handle/123456789/544528
https://lirias.kuleuven.be/handle/123456789/544528
Autor:
Joshua A. Suhl, Ravi S. Muddashetty, Gary J. Bassell, Stephen T. Warren, Jeannie Visootsak, Bart R. Anderson, Marius F. Ifrim
Publikováno v:
Proceedings of the National Academy of Sciences. 112
Fragile X syndrome is a common cause of intellectual disability and autism spectrum disorder. The gene underlying the disorder, fragile X mental retardation 1 (FMR1), is silenced in most cases by a CGG-repeat expansion mutation in the 5' untranslated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345de932ef96b21c15293114a985ac76
https://doi.org/10.1073/pnas.1514260112
https://doi.org/10.1073/pnas.1514260112