Results 111 to 120 of about 717,864 (344)

Jeux de trompe-l’œil dans une cité déchue : La Nouvelle-Orléans de George Washington Cable dans Old Creole Days

open access: yesE-REA, 2016
Throughout his work, 19th century writer George Washington Cable, who was born in New Orleans, kept describing his native city with a tender and yet ruthless eye, before being almost forced into exile for having sharply turned his pen to a critique of ...
Valérie CROISILLE
doaj   +1 more source

Frequency and characteristics of the V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis

open access: yesJournal of International Medical Research, 2020
Objective To analyse the frequency and characteristics of the Janus kinase 2 ( JAK2) V617F mutation in patients with cerebral venous sinus thrombosis (CVST) with thrombocytosis.
Qiang Ma
doaj   +1 more source

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

open access: yesMolecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande   +11 more
wiley   +1 more source

Survivin and Aurora Kinase A control cell fate decisions during mitosis

open access: yesMolecular Oncology, EarlyView.
Aurora A interacts with survivin during mitosis and regulates its centromeric role. Loss of Aurora A activity mislocalises survivin, the CPC and BubR1, leading to disruption of the spindle checkpoint and triggering premature mitotic exit, which we refer to as ‘mitotic slippage’.
Hana Abdelkabir   +2 more
wiley   +1 more source

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. [PDF]

open access: yes, 2015
PurposeTo report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD).MethodsSlit-lamp examination was performed on the probands and available
Aldave, Anthony J   +7 more
core   +1 more source

Phenotypic plasticity in a novel set of EGFR tyrosine kinase inhibitor‐adapted non‐small cell lung cancer cell lines

open access: yesFEBS Open Bio, EarlyView.
Phenotypic plasticity in a newly established set of EGFR inhibitor‐adapted NSCLC cell lines during adaptation and in established cell lines. Here, we introduce novel sublines of the EGFR‐mutant non‐small cell lung cancer (NSCLC) cell lines HCC827 and HCC4006 adapted to the EGFR kinase inhibitors gefitinib (HCC827rGEFI2μm, HCC4006rGEFI1μm), erlotinib ...
Tharsagini V. Nanthaprakash   +6 more
wiley   +1 more source

Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction

open access: yesPediatric Reports, 2009
Posterior circulation vascular occlusive disease in children is a rare and uncommonly reported event. Among the numerous risk factors, the methylenetetrahydrofolate reductase (MTHFR) mutation is considered to be a common genetic cause of thrombosis in ...
Alberto Spalice   +6 more
doaj   +1 more source

Cis‐unsaturated sphingolipids support growth of sphingoid base‐deficient yeast but impair plasma membrane integrity

open access: yesFEBS Open Bio, EarlyView.
Sphingoid base structures, the sphingolipid backbones, vary among species. We established yeast cells in which the native sphingoid base was replaced with plant‐type bases containing cis or trans double bonds. This is, to our knowledge, the first eukaryotic model mostly composed of sphingolipids containing cis‐unsaturated sphingoid base, providing a ...
Takashi Higuchi   +5 more
wiley   +1 more source

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies

open access: yesFrontiers in Neurology, 2019
The white matter disease spectrum is associated with many genetic diseases, including AARS2, CADASIL, ALD, and others. In this study, to determine the novel alanyl-tRNA synthetase 2 mutation implicated in white matter disease, several families with an ...
Xingao Wang   +21 more
doaj   +1 more source

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