Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Jennifer M Gass"'
Autor:
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, Jennifer M Gass, Nicole A Finch, Ya-Fei Xu, Heather Stewart, Brendan J Kelley, Karen Kuntz, Richard J P Crook, Jemeen Sreedharan, Caroline Vance, Eric Sorenson, Carol Lippa, Eileen H Bigio, Daniel H Geschwind, David S Knopman, Hiroshi Mitsumoto, Ronald C Petersen, Neil R Cashman, Mike Hutton, Christopher E Shaw, Kevin B Boylan, Bradley Boeve, Neill R Graff-Radford, Zbigniew K Wszolek, Richard J Caselli, Dennis W Dickson, Ian R Mackenzie, Leonard Petrucelli, Rosa Rademakers
Publikováno v:
PLoS Genetics, Vol 4, Iss 9, p e1000193 (2008)
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative cond
Externí odkaz:
https://doaj.org/article/3cae87e0864343239646260c2e500bfe
Autor:
Hisham F. Bahmad, Gina Elhammady, Jennifer M. Gass, Juan C. Paramo, Robert Poppiti, John Alexis
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 2, Pp 954-962 (2023)
Sclerosing polycystic adenoma (SPA) is a rare neoplasm occurring in the salivary glands, mainly the parotid gland. Although it was originally thought to represent a non-neoplastic process, recent genetic data have proven its monoclonality, supporting
Externí odkaz:
https://doaj.org/article/95e1b26a8efe45de948b619c5de4dc4d
Autor:
Charu Kaiwar, Sarah K. Macklin, Jennifer M. Gass, Jessica Jackson, Eric W. Klee, Stephanie L. Hines, John A. Stauffer, Paldeep S. Atwal
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-4 (2017)
Abstract Background Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majo
Externí odkaz:
https://doaj.org/article/d66067cc9d5a492384427c1288b50036
Autor:
Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be seve
Externí odkaz:
https://doaj.org/article/59b20f95a2a04b9db3912f4c3fbe6889
Autor:
Jessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, Rini Pauly, Catherine A Ziats, David B Everman, Steven A Skinner, Shannon Bell, Raymond J Louie, Lauren Cascio, Wesley G Patterson, Julie R Jones, Nataliya Di Donato, Roger E Stevenson, Luigi Boccuto
Publikováno v:
Human molecular genetics.
Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients have been describ
Autor:
Jewel L. Podratz, Andrew M. Knight, Lauren E. Ta, Nathan P. Staff, Jennifer M. Gass, Konstantin Genelin, Alexander Schlattau, Liselle Lathroum, Anthony J. Windebank
Publikováno v:
Neurobiology of Disease, Vol 41, Iss 3, Pp 661-668 (2011)
Cisplatin is a platinum-based chemotherapeutic agent that induces peripheral neuropathy in 30% of patients. Peripheral neuropathy is the dose limiting side effect, which has no preventative therapy. We have previously shown that cisplatin induces apo
Externí odkaz:
https://doaj.org/article/7528f27b658744fa84d73bbbbf90cb1e
Autor:
John Moss, Charles D. Burger, Tonya Zeiger, Cher Y. Enderby, Jennifer M. Gass, Scott A Helgeson
Publikováno v:
Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 3, Iss 3, Pp 376-379 (2019)
Mayo Clinic Proceedings: Innovations, Quality & Outcomes
Mayo Clinic Proceedings: Innovations, Quality & Outcomes
Pulmonary arterial hypertension is a progressive vascular disease with a high mortality rate without proper therapy. Identification of the appropriate treatment for each patient is critical in regard to adverse effects, health care costs, ease of tre
Publikováno v:
Birth defects researchREFERENCES. 112(13)
Background Hydrocephalus is characterized by increased cerebrospinal fluid within the brain, a causally heterogeneous disorder estimated to affect 1 per 1,000 live births, with the most severe cases often leading to fetal demise. The large number of
Autor:
Wesley Patterson, Barbara R. DuPont, Amy Dobson, Angie W. Lichty, Roger E. Stevenson, Eloise J. Prijoles, Jessica A Cooley Coleman, Jennifer M. Gass, Steven A. Skinner, Savanna Lyda, Catherine A. Ziats, Fatima Abidi
Publikováno v:
Molecular Genetics and Metabolism. 132:S256-S257
Autor:
Allie Merrihew, Barbara R. DuPont, Jennifer M. Gass, Raymond J. Louie, Michael J. Lyons, Benjamin Hilton
Publikováno v:
Cancer Genetics. :S7