Results 11 to 20 of about 28,019 (128)

Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Alzheimer's disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous. METHODS We investigated the association of AD with both common variants and aggregates of rare coding and non‐coding variants in 13,371 individuals of diverse ancestry with whole genome sequencing (WGS) data ...
Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Kunkle BW, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Alzheimer's Disease Sequencing Project, Schellenberg GD, Destefano AL, Haines JL, Peloso GM.   +34 more
europepmc   +2 more sources

Comprehensive characterization of human brain‐derived extracellular vesicles using multiple isolation methods: Implications for diagnostic and therapeutic applications

Journal of Extracellular Vesicles, Volume 12, Issue 8, August 2023., 2023
Abstract Extracellular vesicles (EVs) have emerged as critical mediators of intercellular communication and promising biomarkers and therapeutics in the central nervous system (CNS). Human brain‐derived EVs (BDEVs) provide a comprehensive snapshot of physiological changes in the brain's environment, however, the isolation of BDEVs and the comparison of
Zhengrong Zhang, Kaiwen Yu, Yang You, Peizhou Jiang, Zhiping Wu, Michael A. DeTure, Dennis W. Dickson, Seiko Ikezu, Junmin Peng, Tsuneya Ikezu   +9 more
wiley   +1 more source

Compendium of proteins containing segments that exhibit zero‐tolerance to amino acid variation in humans

Protein Science, Volume 31, Issue 9, September 2022., 2022
Abstract Genetic missense tolerance ratio (MTR) analysis systematically evaluates all possible segments in a given protein‐encoding transcript found in the human population. This method scores each segment for the number of observed missense variants versus the number of silent mutations in that same segment.
Adam L. Sanders, Jake N. Hermanson, David C. Samuels, Lars Plate, Charles R. Sanders   +4 more
wiley   +1 more source

UNC5C Receptor Proteolytic Cleavage by Active AEP Promotes Dopaminergic Neuronal Degeneration in Parkinson's Disease

Advanced Science, Volume 9, Issue 7, March 4, 2022., 2022
Netrin‐1 is reduced in the brains of Parkinson's disease (PD) patients and PD genetic and neurotoxin mouse models, accompanied with prominent asparagine endopeptidase (AEP) activation and UNC5C fragmentation. Netrin‐1 deprivation in primary cultures induces AEP and caspase‐3 activation, triggering UNC5C fragmentation and neuronal loss.
Guiqin Chen, Eun Hee Ahn, Seong Su Kang, Yiyuan Xia, Xia Liu, Zhaohui Zhang, Keqiang Ye   +6 more
wiley   +1 more source

Parathyroid Carcinoma Manifesting as Recurrent Nephrolithiasis

Philippine Journal of Otolaryngology Head and Neck Surgery, 2015
Objective: To present a rare case of primary parathyroid carcinoma and discuss its clinical findings and management. Methods: Study Design:             Case Report Setting:                        Tertiary Government Hospital Patient:          
Ma. Melizza S. Villalon, Celso V. Ureta
doaj   +1 more source

Mucosal melanoma of the inferior turbinate: A case report and literature review

Otolaryngology Case Reports, 2020
Despite its derivation from melanocytes, there are significant differences between mucosal melanomas and cutaneous melanomas. Namely, the non-specific symptoms, lack of known risk factors including sun exposure or family history, and very low incidence ...
Emily Johnson, Miles Neumann, Christine Lepoudre   +2 more
doaj   +1 more source

A Vocal Cord Polyp in a Pediatric Patient

Philippine Journal of Otolaryngology Head and Neck Surgery, 2014
Objective: To present a case of vocal cord polyp in a pediatric patient and discuss its differential diagnosis, assessment and management.               Methods:             Study Design: Case Report             Setting: Tertiary Public ...
Ma. Joan N. Nalangan
doaj   +1 more source

Ant Colony Optimisation for Backward Production Scheduling

Advances in Artificial Intelligence, Volume 2012, Issue 1, 2012., 2012
The main objective of a production scheduling system is to assign tasks (orders or jobs) to resources and sequence them as efficiently and economically (optimised) as possible. Achieving this goal is a difficult task in complex environment where capacity is usually limited.
Leandro Pereira dos Santos, Guilherme Ernani Vieira, Higor Vinicius dos R. Leite, Maria Teresinha Arns Steiner, Deacha Puangdownreong   +4 more
wiley   +1 more source

Technique of Multi-Planar CT Image Reconstruction for the Evaluation of Superior Semicircular Canal Dehiscence Syndrome

Philippine Journal of Otolaryngology Head and Neck Surgery, 2011
Superior semicircular canal dehiscence (SSCD) syndrome is an unusual cause of vertigo that was first identified by Minor in 1998. The patients initially described by Minor presented with vertigo, oscillopsia, and/or dysequilibrium related to sound ...
Nathaniel W. Yang
doaj   +1 more source

Glottal Function Index and GRBAS Scale of Patients Undergoing Vocal Cord Medialization: A Series of Five Patients

Philippine Journal of Otolaryngology Head and Neck Surgery, 2013
Objectives: Vocal cord paralysis or immobility is a debilitating condition that may result from neural injury or mechanical fixation of the vocal cord (VC).
Enrique C. Papa, Emmanuel S. Samson, Francisco A. Victoria   +2 more
doaj   +1 more source