Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Linda L. Restifo"'
Publikováno v:
Neural Development, Vol 18, Iss 1, Pp 1-28 (2023)
Abstract Background CASK-related neurodevelopmental disorders are untreatable. Affected children show variable severity, with microcephaly, intellectual disability (ID), and short stature as common features. X-linked human CASK shows dosage sensitivi
Externí odkaz:
https://doaj.org/article/deed1e44ec8744d5aee0b9ac615b408e
Autor:
Robert Kraft, Allon Kahn, José L. Medina-Franco, Mikayla L. Orlowski, Cayla Baynes, Fabian López-Vallejo, Kobus Barnard, Gerald M. Maggiora, Linda L. Restifo
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 1, Pp 217-235 (2013)
SUMMARY The actin-bundling protein fascin is a key mediator of tumor invasion and metastasis and its activity drives filopodia formation, cell-shape changes and cell migration. Small-molecule inhibitors of fascin block tumor metastasis in animal mode
Externí odkaz:
https://doaj.org/article/6dcc206b5f884de0935effbcba21cb6f
Autor:
Linda L. Restifo, Gerald R. Phelan
Publikováno v:
Disease Models & Mechanisms, Vol 4, Iss 4, Pp 423-426 (2011)
Summary Despite remarkable advances in basic biomedical science that have led to improved patient care, there is a wide and persistent gap in the abilities of researchers and clinicians to understand and appreciate each other. In this Editorial, the
Externí odkaz:
https://doaj.org/article/37263b0b73084623bc7d0b249d857e29
Autor:
Veerabahu Shanmugasundaram, Jürgen Bajorath, Ralph E. Christoffersen, James D. Petke, W. Jeffrey Howe, Mark A. Johnson, Dimitris K. Agrafiotis, Pil Lee, Leslie A. Kuhn, Jay T. Goodwin, M. Katharine Holloway, Thompson N. Doman, W. Patrick Walters, Suzanne Schreyer, José L. Medina-Franco, Karina Martinez-Mayorga, Linda L. Restifo
Publikováno v:
Journal of Computer-Aided Molecular Design. 36:623-638
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4fcd4233176dd82476c1a8cc7e31cb1
https://doi.org/10.1007/s10822-022-00473-2
https://doi.org/10.1007/s10822-022-00473-2
Autor:
Rachel L. Doser, Dailu Chen, Judith A. Tello, David R. Andrew, Linda L. Restifo, William E. Conner, Mariah E. Moe, Jaswinder K. Ghuman
Publikováno v:
Journal of Neurogenetics. 35:1-22
Mutations in hundreds of genes cause neurodevelopmental disorders with abnormal motor behavior alongside cognitive deficits. Boys with fragile X syndrome (FXS), a leading monogenic cause of intelle...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02ef043528b7b0cd3383b6cf5b24af5a
https://doi.org/10.1080/01677063.2020.1833005
https://doi.org/10.1080/01677063.2020.1833005
Autor:
Linda L. Restifo
Publikováno v:
Genetics
In the late 20th century, identification of the major protein components of amyloid plaques and neurofibrillary tangles provided a window into the molecular pathology of Alzheimer’s disease, ushering in an era of optimism that targeted therapeutics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d64a93edc3ed9291c29dc735aec9dfc
https://doi.org/10.1093/genetics/iyab185
https://doi.org/10.1093/genetics/iyab185
Autor:
David R, Andrew, Mariah E, Moe, Dailu, Chen, Judith A, Tello, Rachel L, Doser, William E, Conner, Jaswinder K, Ghuman, Linda L, Restifo
Publikováno v:
Journal of neurogenetics. 35(1)
Mutations in hundreds of genes cause neurodevelopmental disorders with abnormal motor behavior alongside cognitive deficits. Boys with fragile X syndrome (FXS), a leading monogenic cause of intellectual disability, often display repetitive behaviors,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23c04d20cd3e52b93e987bed8997c051
https://pubmed.ncbi.nlm.nih.gov/33164597
https://pubmed.ncbi.nlm.nih.gov/33164597
Autor:
Xiaoyang Cheng, Dinesh Talwar, Stephen G. Waxman, Janelle E. O’Brien, Santhosh Girirajan, Evan E. Eichler, Sulayman D. Dib-Hajj, Michael F. Hammer, Miriam H. Meisler, Linda L. Restifo, Robert P. Erickson, Krishna R. Veeramah
Publikováno v:
The American Journal of Human Genetics. 90:502-510
Individuals with severe, sporadic disorders of infantile onset represent an important class of disease for which discovery of the underlying genetic architecture is not amenable to traditional genetic analysis. Full-genome sequencing of affected indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::396a8e47c07c3e9d7ed8a9324b164091
https://doi.org/10.1016/j.ajhg.2012.01.006
https://doi.org/10.1016/j.ajhg.2012.01.006
Publikováno v:
Journal of Asia-Pacific Entomology. 14:509-517
The fruit fly, Drosophila melanogaster, has been intensively used as a genetic model system for basic and applied research on human neurological diseases because of advantages over mammalian model systems such as ease of laboratory maintenance and ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bd04fa32c9e5bff1f4fd14da0b90ed8
https://doi.org/10.1016/j.aspen.2011.07.001
https://doi.org/10.1016/j.aspen.2011.07.001
Autor:
Gerald R. Phelan, Linda L. Restifo
Publikováno v:
Disease Models & Mechanisms
Disease Models & Mechanisms, Vol 4, Iss 4, Pp 423-426 (2011)
Disease Models & Mechanisms, Vol 4, Iss 4, Pp 423-426 (2011)
Summary Despite remarkable advances in basic biomedical science that have led to improved patient care, there is a wide and persistent gap in the abilities of researchers and clinicians to understand and appreciate each other. In this Editorial, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a0e48ac6161d847baab45b6226bc15
https://doi.org/10.1242/dmm.008177
https://doi.org/10.1242/dmm.008177