Results 41 to 50 of about 2,392,377 (310)

Polyglutamine pathogenesis

open access: yesPhilosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 1999
An increasing number of neurodegenerative disorders have been found to be caused by expanding CAG triplet repeats that code for polyglutamine. Huntington's disease (HD) is the most common of these disorders and dentato-rubral-pallidoluysian atrophy (DRPLA) is very similar to HD, but is caused by mutation in a different gene, making them good models to ...
C A, Ross   +8 more
openaire   +3 more sources

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel   +3 more
wiley   +1 more source

A culturomics approach reveals cross-feeding capacity of intestinal pig bacteria upon release of inositol from phytate

open access: yesMicrobiome
Background Phytate is the primary phosphorus storage molecule of plants and plays a major role in animal nutrition. To enhance phosphate availability and absorption in livestock, and to reduce eutrophication by liquid manure, bacterial phytases are often
Lena-Sophie Paul   +3 more
doaj   +1 more source

A case report of multiple primary prostate tumors with differential drug sensitivity

open access: yesNature Communications, 2020
Prostate cancer is often a multifocal disease but how best to manage this clinically remains unclear. Here, the authors report a single case study of a patient with two genetically diverse tumours which showed differential response to therapy.
Scott Wilkinson   +20 more
doaj   +1 more source

Dark-light cycle disrupts bone metabolism and suppresses joint deterioration in osteoarthritic rats

open access: yesArthritis Research & Therapy, 2022
Background Light alteration affects the internal environment and metabolic homeostasis of the body through circadian rhythm disorders (CRD). CRD is one of the factors that induce and accelerate osteoarthritis (OA). Therefore, the aim of this study was to
Xiaopeng Song   +15 more
doaj   +1 more source

Episodic and electrical nervous system disorders caused by nonchannel genes. [PDF]

open access: yes, 2015
As noted in the separate introduction to this special topic section, episodic and electrical disorders can appear quite different clinically and yet share many overlapping features, including attack precipitants, therapeutic responses, natural history ...
Fu, Ying-Hui   +2 more
core   +1 more source

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

open access: yesTherapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source

Valganciclovir as Add-On to Standard Therapy in Secondary Glioblastoma

open access: yesMicroorganisms, 2020
Patients with glioblastoma have a very poor prognosis despite aggressive therapeutic strategies. Cytomegalovirus has been detected in >90% of glioblastoma tumors.
Giuseppe Stragliotto   +3 more
doaj   +1 more source

The role of mucosal immunity in the pathogenesis of necrotizing enterocolitis [PDF]

open access: yes, 2017
Necrotizing enterocolitis (NEC) is the most devastating gastrointestinal disease of prematurity. Although the precise cause is not well understood, the main risk factors thought to contribute to NEC include prematurity, formula feeding, and bacterial ...
Bolock, Alexa M   +2 more
core   +2 more sources

Therapeutic Apheresis for Intravenous Methylprednisolone‐Refractory Neuromyelitis Optica Spectrum Disorder: Clinical and Radiological Outcomes in a Single‐Center Case Series

open access: yesTherapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing autoimmune disease of the central nervous system. High‐dose intravenous methylprednisolone (IVMP) is the standard first‐line therapy for acute attacks, although some patients remain refractory.
Wataru Horiguchi   +5 more
wiley   +1 more source

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