Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Steven F Stasheff"'
Publikováno v:
Vision, Vol 8, Iss 2, p 31 (2024)
Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder primarily affecting children and adolescents characterized by multisystemic clinical manifestations. Mutations in neurofibromin, the protein encoded by the Nf1 tumor suppresso
Externí odkaz:
https://doaj.org/article/d903f851b9d44647ba789c16a656756e
Autor:
Steven F. Stasheff
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Hereditary retinal degenerations result from varied pathophysiologic mechanisms, all ultimately characterized by photoreceptor dysfunction and death. Hence, much research on these diseases has concentrated on the outer retina. Over the past decade or
Externí odkaz:
https://doaj.org/article/3e5e607212284c1999a1c594a14699bf
Autor:
Shayne F. Andrew, Matthew K. Krause, Emmanuelle S. Jecrois, Austin Friend, Jingwen Jiang, Yinghua Li, Yuan Zhu, Daphine Muguyo, Francisco M Nadal-Nicolás, Brianna R. Pierce, Wei Li, Hongmei Mao, Sharon Huynh, Yuan Wang, Steven F Stasheff, Miriam Bornhorst, Roger J. Packer, Daniel M. Treisman, Hui Zong, Wang Zheng
Publikováno v:
Developmental cell. 56(20)
The mechanism of vulnerability to pediatric low-grade gliomas (pLGGs)-the most common brain tumor in children-during development remains largely unknown. Using mouse models of neurofibromatosis type 1 (NF1)-associated pLGGs in the optic pathway (NF1-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b19bf0a68f78ffeeb46836bbdc994324
https://pubmed.ncbi.nlm.nih.gov/34699786
https://pubmed.ncbi.nlm.nih.gov/34699786
Autor:
Grant T. Liu, Raymond G. Areaux, Trent R. Hummel, Duncan Stearns, Aimee Sato, W. Walker Motley, Laura J. Klesse, Steven F Stasheff, Arun Y. Reginald, Tena Rosser, David Van Mater, Adam J. Esbenshade, Mays A. El-Dairi, Emily McCourt, Robert Listernick, Eric Bouffet, Nicole J. Ullrich, Shannon Beres, Maree Flaherty, Miriam Bornhorst, Gary Cutter, Michael Fisher, Jeffrey C. Allen, Jason H. Peragallo, Christopher L. Moertel, Faruk Orge, Gena Heidary, Mark Borchert, Simone L. Ardern-Holmes, Milan P. Ranka, John R. Crawford, Kevin J. Bielamowicz, Henry S. O'Halloran, Nicholas K. Foreman, Robert A. Avery, Kristina Tarczy-Hornoch, Cynthia J. Campen, Paul H. Phillips, David H. Gutmann, Peter de Blank, Nick Hogan, David S. Wolf, Janice Lasky Zeid, Michael C. Brodsky, Sean P. Donahue, Rosalie E. Ferner
Publikováno v:
Neuro-Oncology
INTRODUCTION Because treatment and clinical management decisions for children with NF1-OPG remain challenging, we sought to establish evidence-based guidelines. We prospectively enrolled children with newly-diagnosed NF1-OPGs, and gathered standardiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b0d8ce99fec9e113889e372136b2d01
http://europepmc.org/articles/PMC7715986
http://europepmc.org/articles/PMC7715986
Autor:
Caroline Andrews, Steven F. Stasheff, Max A. Tischfield, Elizabeth C. Engle, P. Ellen Grant, Mary C. Whitman, David G. Hunter, Xilma R. Ortiz-Gonzalez, Sarah MacKinnon, Wai-Man Chan, Francesco Brancati, Sara Nuovo, Francesco Garaci
Publikováno v:
American Journal of Medical Genetics Part A. 170:297-305
One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic Congenital Fibrosis of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed6b8356d40319bc053ecbc682303ea
https://doi.org/10.1002/ajmg.a.37362
https://doi.org/10.1002/ajmg.a.37362
Autor:
Steven F Stasheff, Roger J. Packer, Priya Vaidyanathan, Courtney Johnson, Eugene Hwang, John A. Jane, Young Kwok
BACKGROUND: Prolactin-secreting macroadenomas are generally not life-threatening and often present with visual impairment. Medical management with a dopamine agonist is typically the treatment of choice, which significantly reduces the tumor size and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a2c4eb509b9a1848fe8708cd412aa5
https://europepmc.org/articles/PMC6012925/
https://europepmc.org/articles/PMC6012925/
Autor:
Wang Zheng, Austin Friend, Steven F Stasheff, Emma Jecrois, Daphine Mugayo, Miriam Bornhorst, Patrick Mateas, Yuan Zhu
Optic pathway gliomas (OPGs) are glial tumors that arise early during development in 15-20% of patients with Neurofibromatosis Type I (NF1). While chemotherapy is often used for patients who have growing tumors and/or vision loss associated with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85129f49a45c59a4a940116a14237acd
https://europepmc.org/articles/PMC6012061/
https://europepmc.org/articles/PMC6012061/
Autor:
Robert F. Mullins, Erika F. Augustine, Sandy D. Hong, Arlene V. Drack, Steven F. Stasheff, Wanda L. Pfeifer
Publikováno v:
Ophthalmic Genetics. 36:359-364
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) presents with progressive vision loss at 4–7 years of age. Blindness results within 2 years, followed by inexorable neurologic decline and death. There is no treatment or cure. Neuroinflammation is pos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c3e1b06c565a758277f2051e8f2908
https://doi.org/10.3109/13816810.2014.886271
https://doi.org/10.3109/13816810.2014.886271
Autor:
Steven F. Stasheff, Frederick R. Blodi, Stewart Thompson, Michael G. Anderson, Demelza R. Larson
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose The R345W mutation in EFEMP1 causes malattia leventinese, an autosomal dominant eye disease with pathogenesis similar to an early-onset age-related macular degeneration. In mice, Efemp1R345W does not cause detectable degeneration but small su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8187763d682a6ff1463f62299332d7
https://doi.org/10.1167/iovs.19-26881
https://doi.org/10.1167/iovs.19-26881
Autor:
Margaret J. Chowaniec, Gerard P. Barry, Steven F. Stasheff, H. Culver Boldt, Donny W. Suh, Paul M. Beer
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 19:175-177
We report 2 cases of unilateral retinal arteriovenous malformation (AVM) with previously unreported anomalies of the inner retinal layers detected on spectral domain optical coherence tomography (SD-OCT): a 5-year-old girl with a large unilateral ret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7573eb3edf0f38dabda66fdc170eb1f6
https://doi.org/10.1016/j.jaapos.2014.09.019
https://doi.org/10.1016/j.jaapos.2014.09.019