Results 61 to 70 of about 98,141 (345)
Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]
, 2015 Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen +9 more
core +4 more sources
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]
, 1984 The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter +3 more
core +1 more source
FEBS Open Bio, EarlyView.We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies +3 more
wiley +1 more source
Successful Treatment of Interdigitating Dendritic Cell Sarcoma Presenting as Multiple Parotid Tumors
Acta Oto-Laryngologica Case Reports, 2019 Interdigitating dendritic cell sarcoma (IDCS) is an extremely rare neoplasm derived from antigen-presenting cells of the immune system. It mostly occurs in the lymph node of the neck or axilla.
Yasuyuki Kajimoto +5 more
doaj +1 more source
Trigeminal neuralgia: new classification and diagnostic grading for practice and research [PDF]
, 2016 Trigeminal neuralgia (TN) is an exemplary condition of neuropathic facial pain. However, formally classifying TN as neuropathic pain based on the grading system of the International Association for the Study of Pain is complicated by the requirement of ...
CRUCCU, Giorgio +8 more
core +2 more sources
The role of lipid metabolism in neuronal senescence
FEBS Open Bio, EarlyView.Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari +2 more
wiley +1 more source
Facial palsy as a manifestation of early neuroborreliosis (clinical case)
Medičnì Perspektivi, 2020 Lyme borreliosis is a tick-borne transmitted infectious disease caused by the spirochete Borrelia burgdorferi sensu lato and spread by the bite of ticks of the genus Ixodes.
I.M. Poiasnyk
doaj +1 more source
Clinic manifestations in granulomatosis with polyangiitis [PDF]
, 2016 Granulomatosis with polyangiitis (GPA), formerly Wegener's granulomatosis (WG), is an uncommon immunologically mediated systemic small-vessel vasculitis that is pathologically characterised by an inflammatory reaction pattern (necrosis, granulomatous ...
De Vincentiis, Marco +7 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source