Results 11 to 20 of about 971,586 (246)
Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma
Molecular Oncology, EarlyView.GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski +19 more
wiley +1 more source
Unraveling LINE‐1 retrotransposition in head and neck squamous cell carcinoma
Molecular Oncology, EarlyView.The novel RetroTest method allows the detection of L1 activation in clinical samples with low DNA input, providing global L1 activity and the identification of the L1 source element. We applied RetroTest to a real‐world cohort of HNSCC patients where we reported an early L1 activation, with more than 60% of T1 patients showing L1 activity.
Jenifer Brea‐Iglesias +12 more
wiley +1 more source
Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Hepatology, EarlyView., 2022 Physiological activation of myeloid p38 controls macrophage IL‐12 production and crosstalk to the liver by modulating hepatic FGF21, and subsequently, brown adipose tissue thermogenesis during obesity Abstract Obesity features excessive fat accumulation in several body tissues and induces a state of chronic low‐grade inflammation that contributes to ...
María Crespo +14 more
wiley +1 more source
Mechanisms of De‐icing by Surface Rayleigh and Plate Lamb Acoustic Waves
Advanced Engineering Materials, EarlyView.Ice accretion impacts daily life, renewable energy generation, maintenance, and security in industries and aeronautics. Acoustic waves (AW) are a promising method for ice removal, although de‐icing mechanisms require further investigation to optimize energy efficiency.
Shilpi Pandey +15 more
wiley +1 more source
Enhanced mitochondrial activity reshapes a gut microbiota profile that delays NASH progression
Hepatology, EarlyView., 2022 Improved mitochondrial activity, due to the lack of methylation‐controlled J protein (MCJ), creates a specific microbiota signature that when transferred through cecal microbiota transplantation delays NASH progression by restoring the gut‐liver axis and enhancing hepatic fatty acid oxidation.
María Juárez‐Fernández +18 more
wiley +1 more source
Advanced Functional Materials, EarlyView.This study demonstrates that in sputter‐deposited Tb3Fe5O12 (TbIG)/nonmagnetic metal (NM) heterostructures, the interfacial Dzyaloshinskii–Moriya Interaction (DMI) originates at the TbIG/NM interface. Furthermore, measurements suggest a significant interfacial DMI arising from a second non‐local interface, created by inserting a Cu spacer layer between
Stefano Fedel +6 more
wiley +1 more source