Results 41 to 50 of about 2,659 (212)

A retrospective observational study to determine baseline characteristics and early prescribing patterns for patients receiving Alirocumab in UK clinical practice [PDF]

open access: yes, 2019
Background Alirocumab is a fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9 (PCSK9) and has been previously shown, in the phase III ODYSSEY clinical trial program, to provide significant lowering of lowdensity lipoprotein
BG Nordestgaard   +12 more
core   +4 more sources

Pupillary contagion is independent of the emotional expression of the face [PDF]

open access: yes, 2019
The concept of pupillary contagion refers to the automatic imitation of observed pupil size and reflects shared autonomic arousal. Previous studies linked the experience of sadness to changes in pupil size. Accordingly, Harrison, Singer, Rotshtein, Dolan
Brass, Marcel   +3 more
core   +2 more sources

Revealing and avoiding bias in semantic similarity scores for protein pairs [PDF]

open access: yes, 2010
Background Semantic similarity scores for protein pairs are widely applied in functional genomic researches for finding functional clusters of proteins, predicting protein functions and protein-protein interactions, and for identifying putative disease ...
Jing Wang   +4 more
core   +1 more source

Síndrome de Adie

open access: yesBrazilian Journal of Health Review, 2022
Introdução: A Síndrome de Adie-Homes é uma doença caracterizada pela presença de pupila tônica associada à diminuição ou ausência dos reflexos tendíneos profundos. É uma doença considerada típica de adultos jovens e apresenta uma etiologia comumente idiopática.A presença de alteração no tamanho das pupilas é uma das queixas mais comuns.
Andrade, Raquel Barcelos   +21 more
openaire   +2 more sources

ATF4‐mediated stress response as a therapeutic vulnerability in chordoma

open access: yesMolecular Oncology, EarlyView.
We screened 5 chordoma cell lines against 100+ inhibitors of epigenetic and metabolic pathways and kinases and identified halofuginone, a tRNA synthetase inhibitor. Mechanistically halofuginone induces an integrated stress response, with eIF2alpha phosphorylation, activation of ATF4 and its target genes CHOP, ASNS, INHBE leading to cell death ...
Lucia Cottone   +11 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Asymptomatic Severe Vagal and Sympathetic Cardiac Denervation in Holmes-Adie’s Syndrome

open access: yesCase Reports in Neurological Medicine, 2017
A 40-year-old woman was found to have bilateral Adie’s pupils and generalized muscle stretch areflexia. She did not have orthostatic hypotension but, in an ECG strip in the office, she appeared to have an almost fixed heart rate.
B. Estañol   +5 more
doaj   +1 more source

Network based integrated analysis of phenotype-genotype data for prioritization of candidate symptom genes [PDF]

open access: yes, 2014
YesSymptoms and signs (symptoms in brief) are the essential clinical manifestations for individualized diagnosis and treatment in traditional Chinese medicine (TCM).
Hu, J.   +8 more
core   +3 more sources

Development and Retrospective Application of Novel Outcome Measure: Sturge–Weber Syndrome Acute Crisis (SWAC) Index

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Sturge–Weber syndrome (SWS) symptoms frequently overlap in neurological acute crises (ACs) presenting with seizures, stroke‐like episodes (SLE), and headaches. Recent efforts to develop a prospective drug trial highlighted the need for a new outcome measure capable of quantifying these symptoms during an SWS AC.
Kieran D. McKenney   +3 more
wiley   +1 more source

Inference of gene-phenotype associations via protein-protein interaction and orthology [PDF]

open access: yes, 2013
published_or_final_versio
Lai, WF   +6 more
core   +3 more sources

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