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These mutations were associated with a signature of decreased antigen presentation characterized by reduced transcript and protein abundance of MHC class II on tumor B cells, in line with the role of CREBBP in promoting class II transactivator (CIITA -dependent transCIITA -dependentatranscriptionalenes.
Myocardial infarction was defined as a clinical presentation characterized by typical symptoms, electrocardiographic changes associated with an elevation of cardiac biomarkers, and angiographic evidence of coronary thrombosis.
The Bst+/− mouse has a striking ocular presentation characterized by retinal colobomas, reduced retinal ganglion cells (RGCs) and axon misrouting (Rice et al., 1997; Tang et al., 1999).
However, patients with comorbidities as cancer and chronic diseases may show a serious clinical presentation, characterized by respiratory failure with variable severity [ 6, 7].
Systemic sclerosis (SSc) is a systemic autoimmune and inflammatory disease with a heterogeneous clinical presentation characterized by progressive fibrosis of the skin and internal organs, vascular damage, autoantibody production and immune dysregulation [ 1, 2].
Hypokalaemic Periodic Paralyses (HypokPP) include several uncommon diseases with clinical presentation characterized by acute and reversible attacks of muscle weakness, especially of the lower extremities, associated with low serum potassium.
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We performed whole exome and candidate gene sequencing in 10 patients from seven families with mitochondrial disease presentations characterized by infantile lactic acidosis, severely impaired psychomotor development and isolated COX deficiency.
Clinical presentation was characterized by retrospective chart review and blinded re-reading of computed tomography (CT) scans.
Its clinical presentation is characterized by a non-specific acute onset or recurrent abdominal pain.
The clinical presentation was characterized by mild tremors and myoclonus, progressing to a marked cognitive disorder, including spatial disorientation but without anxiety, aggressiveness or loss of appetite.
Classic presentation is characterized by fever, back pain, and anterior thigh or groin pain.
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