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https://www.readbyqxmd.com/read/29329552/correction-to-linkage-whole-genome-sequence-and-biological-data-implicate-variants-in-rab10-in-alzheimer-s-disease-resilience
#1
Perry G Ridge, Celeste M Karch, Simon Hsu, Ivan Arano, Craig C Teerlink, Mark T W Ebbert, Josue D Gonzalez Murcia, James M Farnham, Anna R Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M Fernandez, Rita Guerreiro, Jose Bras, John Hardy, Ronald Munger, Maria Norton, Celeste Sassi, Andrew Singleton, Steven G Younkin, Dennis W Dickson, Todd E Golde, Nathan D Price, Nilüfer Ertekin-Taner, Carlos Cruchaga, Alison M Goate, Christopher Corcoran, JoAnn Tschanz, Lisa A Cannon-Albright, John S K Kauwe
The original version of this article [1] unfortunately contained a typographical error. The 'Alzheimer's Disease Neuroimaging Initiative' was erroneously included as 'Alzheimer's Disease Neuroimaging Initative' in the author list of the article.
January 12, 2018: Genome Medicine
https://www.readbyqxmd.com/read/29183403/linkage-whole-genome-sequence-and-biological-data-implicate-variants-in-rab10-in-alzheimer-s-disease-resilience
#2
Perry G Ridge, Celeste M Karch, Simon Hsu, Ivan Arano, Craig C Teerlink, Mark T W Ebbert, Josue D Gonzalez Murcia, James M Farnham, Anna R Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M Fernandez, Rita Guerreiro, Jose Bras, John Hardy, Ronald Munger, Maria Norton, Celeste Sassi, Andrew Singleton, Steven G Younkin, Dennis W Dickson, Todd E Golde, Nathan D Price, Nilüfer Ertekin-Taner, Carlos Cruchaga, Alison M Goate, Christopher Corcoran, JoAnn Tschanz, Lisa A Cannon-Albright, John S K Kauwe
BACKGROUND: While age and the APOE ε4 allele are major risk factors for Alzheimer's disease (AD), a small percentage of individuals with these risk factors exhibit AD resilience by living well beyond 75 years of age without any clinical symptoms of cognitive decline. METHODS: We used over 200 "AD resilient" individuals and an innovative, pedigree-based approach to identify genetic variants that segregate with AD resilience. First, we performed linkage analyses in pedigrees with resilient individuals and a statistical excess of AD deaths...
November 29, 2017: Genome Medicine
https://www.readbyqxmd.com/read/23448453/fabry-disease-and-cardiovascular-involvement
#3
REVIEW
Aris Anastasakis, Efstathios Papatheodorou, Alexandros Klavdios Steriotis
Fabry disease (FD, OMIM 301500) is a rare X-linked lysosomal storage disorder of the glycosphigolipid metabolism caused by total or partial deficiency of the lysosomal enzyme alpha-galactosidase A (α-gal A). Progressive intralysosomal accumulation of neutral glycosphingolipids in a variety of cell types triggers a cascade of pathophysiological events including cellular death, compromised energy metabolism, small vessel injury, K(Ca)3.1 channel dysfunction in endothelial cells, oxidative stress, impaired autophagosome maturation, tissue ischemia and, importantly, development of irreversible cardiac and renal tissue fibrosis, leading to major multisystemic manifestations...
2013: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/18402208/-evaluation-of-lipid-digestion-using-the-13c-mixed-triglyceride-breath-test-in-patients-with-chronic-pancreatitis
#4
Segundo Morán-Villota, María Elena Arteaga, Gustavo Arturo Rodríguez-Leal, Mayela Medina-Zavala, Irazú Gallardo-Wong, Pilar Milke-García, Margarita Dehesa-Violante
BACKGROUND: Steatorrhea represents the indirect sign of lipid maldigestion in chronic pancreatitis and even when the measurement of fecal fat is considered as a gold standard for the diagnosis of steatorrhea, this test is not commonly used within clinical practice because of the inconvenience related to sample collection. Although the use of breath test using mixted tryglicerides was initally validated as an indirect alternative for the assessment of exocrine pancreas reserve, only recently has used this method as a surrogate for the measurement of fat in feces...
July 2007: Revista de Gastroenterología de México
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