Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Todd E Scheetz"'
Autor:
Todd E Scheetz, Ben R Roos, Frances Solivan-Timpe, Kathy Miller, Adam P DeLuca, Edwin M Stone, Young H Kwon, Wallace L M Alward, Kai Wang, John H Fingert
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0156001 (2016)
Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG) occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN) and TANK binding kinase 1 (TBK1
Externí odkaz:
https://doaj.org/article/13438c9f018745269eb37cab0289af4b
Autor:
Markus H Kuehn, Koren A Lipsett, Marilyn Menotti-Raymond, S Scott Whitmore, Todd E Scheetz, Victor A David, Stephen J O'Brien, Zhongyuan Zhao, Jackie K Jens, Elizabeth M Snella, N Matthew Ellinwood, Gillian J McLellan
Publikováno v:
PLoS ONE, Vol 11, Iss 8, p e0161517 (2016)
[This corrects the article DOI: 10.1371/journal.pone.0154412.].
Externí odkaz:
https://doaj.org/article/ab671746dddc4054b18fe907d152c6d9
Autor:
Markus H Kuehn, Koren A Lipsett, Marilyn Menotti-Raymond, S Scott Whitmore, Todd E Scheetz, Victor A David, Stephen J O'Brien, Zhongyuan Zhao, Jackie K Jens, Elizabeth M Snella, N Matthew Ellinwood, Gillian J McLellan
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0154412 (2016)
The glaucomas are a group of diseases characterized by optic nerve damage that together represent a leading cause of blindness in the human population and in domestic animals. Here we report a mutation in LTBP2 that causes primary congenital glaucoma
Externí odkaz:
https://doaj.org/article/90a109b3da564685acc545e18fecb7b1
Autor:
Shruti V. Patil, Balasankara Reddy Kaipa, Sujata Ranshing, Yogapriya Sundaresan, J. Cameron Millar, Bhavani Nagarajan, Charles Kiehlbauch, Qihong Zhang, Ankur Jain, Charles C. Searby, Todd E. Scheetz, Abbot F. Clark, Val C. Sheffield, Gulab S. Zode
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Mutations in myocilin (MYOC) are the leading known genetic cause of primary open-angle glaucoma, responsible for about 4% of all cases. Mutations in MYOC cause a gain-of-function phenotype in which mutant myocilin accumulates in the endoplas
Externí odkaz:
https://doaj.org/article/30e1fedfb0d445a39df2b98bbdbfd4a5
Autor:
Jesse D Riordan, Vincent W Keng, Barbara R Tschida, Todd E Scheetz, Jason B Bell, Kelly M Podetz-Pedersen, Catherine D Moser, Neal G Copeland, Nancy A Jenkins, Lewis R Roberts, David A Largaespada, Adam J Dupuy
Publikováno v:
PLoS Genetics, Vol 9, Iss 4, p e1003441 (2013)
We previously utilized a Sleeping Beauty (SB) transposon mutagenesis screen to discover novel drivers of HCC. This approach identified recurrent mutations within the Dlk1-Dio3 imprinted domain, indicating that alteration of one or more elements withi
Externí odkaz:
https://doaj.org/article/74ed0ae8a4344f6fbb931f1bfaf4706b
Autor:
Todd E Scheetz, John H Fingert, Kai Wang, Markus H Kuehn, Kevin L Knudtson, Wallace L M Alward, H Culver Boldt, Stephen R Russell, James C Folk, Thomas L Casavant, Terry A Braun, Abbot F Clark, Edwin M Stone, Val C Sheffield
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e58657 (2013)
Glaucoma and age-related macular degeneration (AMD) are the two leading causes of visual loss in the United States. We utilized a novel study design to perform a genome-wide association for both primary open angle glaucoma (POAG) and AMD. This study
Externí odkaz:
https://doaj.org/article/7b3c394a3c1d49e59050bc0736d0742d
Autor:
Erin R Burnight, Janice M Staber, Pavel Korsakov, Xianghong Li, Benjamin T Brett, Todd E Scheetz, Nancy L Craig, Paul B McCray, Jr
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 1, Iss C (2012)
Nonviral vector systems are used increasingly in gene targeting and gene transfer applications. The piggyBac transposon represents an alternative integrating vector for in vivo gene transfer. We hypothesized that this system could achieve persistent
Externí odkaz:
https://doaj.org/article/9e096539c6304312a7b0ab01eaa43b3e
Autor:
Maura McGrail, Julia M Hatler, Xianyan Kuang, Hsin-Kai Liao, Kishore Nannapaneni, Kristin E Noack Watt, Juli D Uhl, David A Largaespada, Erik Vollbrecht, Todd E Scheetz, Adam J Dupuy, Jesse M Hostetter, Jeffrey J Essner
Publikováno v:
PLoS ONE, Vol 6, Iss 4, p e18826 (2011)
Large-scale sequencing of human cancer genomes and mouse transposon-induced tumors has identified a vast number of genes mutated in different cancers. One of the outstanding challenges in this field is to determine which genes, when mutated, contribu
Externí odkaz:
https://doaj.org/article/2527c50033bc4acc9c059bfb44b5c54e
Autor:
Benjamin T Brett, Katherine E Berquam-Vrieze, Kishore Nannapaneni, Jian Huang, Todd E Scheetz, Adam J Dupuy
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24668 (2011)
The recent development of the Sleeping Beauty (SB) system has led to the development of novel mouse models of cancer. Unlike spontaneous models, SB causes cancer through the action of mutagenic transposons that are mobilized in the genomes of somatic
Externí odkaz:
https://doaj.org/article/2eb8ed0a8f8a44d79f655d8cc71c0d51
Autor:
Adam P. DeLuca, PhD, S. Scott Whitmore, PhD, Nicole J. Tatro, BSE, Jeaneen L. Andorf, BA, Ben P. Faga, BS, Laurel A. Faga, BS, Malia M. Colins, BA, Meagan A. Luse, BS, Beau J. Fenner, MD, PhD, Edwin M. Stone, MD, PhD, Todd E. Scheetz, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 4, Pp 100397- (2023)
Purpose: Choroideremia is an X-linked choroidopathy caused by pathogenic variants in the CHM gene. It is characterized by the early appearance of multiple scotomas in the peripheral visual field that spread and coalesce, usually sparing central visio
Externí odkaz:
https://doaj.org/article/d0d6f23a7ef9472fabe9f324945bdab8