Results 31 to 40 of about 749,894 (262)

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Association between handgrip strength and physical activity in hypertensive elderly individuals

Revista Brasileira de Geriatria e Gerontologia
Introduction : Handgrip is an excellent indicator of functionality, nutritional status and mortality among the elderly. Objective: To compare the handgrip strength of hypertensive elderly individuals classified by different levels and types of physical ...
Rafaela Ávila Mattioli, Adriana Schüler Cavalli, José Antônio Bicca Ribeiro, Marcelo Cozzensa da Silva   +3 more
doaj   +1 more source

Assessment of maximal isometric hand grip strength in school-aged children

Open Medicine, 2018
Hand grip strength (HGS) test is commonly used as an indicator of overall muscle strength in medical and sport practices. Recently, several studies have proposed that the measurement of the maximal HGS depends on dynamometer’s handle position. The aim of
Gąsior Jakub S., Pawłowski Mariusz, Williams Craig A., Dąbrowski Marek J., Rameckers Eugene A.   +4 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Evaluación de factores asociados al estado funcional en ancianos de 60 años o más en Bogotá, Colombia

Biomédica: revista del Instituto Nacional de Salud, 2017
Introducción. La declinación funcional produce un amplio espectro de efectos negativos, como dificultad para la movilidad, aislamiento social, deterioro de la calidad de vida, discapacidad e internación en instituciones especializadas, lo cual convierte ...
Carlos Cano-Gutiérrez, Miguel Germán Borda, Carlos Reyes-Ortiz, Antonio J. Arciniegas, Rafael Samper-Ternent   +4 more
doaj   +1 more source

Analysing the significance of small conformational changes and low occupancy states in serial crystallographic data

FEBS Open Bio, EarlyView.
This protocol paper outlines methods to establish the success of a time‐resolved serial crystallographic experiment, by means of statistical analysis of timepoint data in reciprocal space and models in real space. We show how to amplify the signal from excited states to visualise structural changes in successful experiments.
Jake Hill, Yelyzaveta Pulnova, Elke De Zitter, Helen M. Ginn, Briony A. Yorke   +4 more
wiley   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Investigating the effect of the Dominant Hand on Grip Strength and Hand Dexterity [PDF]

بهداشت و ایمنی کار
Introduction: In all societies, tools and equipment are generally designed for right-handed people, who make up approximately 90% of the population, but left-handed and ambidextrous people (those who use both hands in manual activities) also live among ...
Mohammad Sadegh Sohrabi, Atousa Rezayi, Tayeb Mohammadi, Mehrane Shabani   +3 more
doaj  

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket, J. Lycke, J. Salzer, F. Piehl, K. Fink, N. Lange, J. Mellergård, C. Malmeström, P. Sundström, I. Erngren, A. al‐Grety, E. Freyhult, K. Kultima, J. Burman, A. Svenningsson   +14 more
wiley   +1 more source