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Unlike lipodystrophy, which features chronic deficiency of adipose tissue, cachexia is an acute wasting disease.
Sphingomyelin accumulation with or without significant sphingomyelinase deficiency are features of Niemann-Pick disease, of which subtypes A, C and D manifest with irreversible neurological damage [ 92].
Most experiments were performed using both Rps19- and Rpl11-deficient models to reveal features common for deficiency of RPs from both small and large ribosomal subunits.
A combination of bacterial pathogenic features and deficiency of host defense may permit this bacterium to establish infection in the lower respiratory tract resulting in inflammation and clinical disease.
Contrast agents sometimes cause hypoxia in the kidney a deficiency of oxygenation and the primary feature of progressive chronic kidney disease [ 3- 5].
One of these features is a deficiency of the neurotransmitter acetylcholine; neurons containing acetylcholine play an important role in memory.
The studies with knockout mice showed that deficiency of sPLA2-X reduced allergen-induced features of airway inflammation [ 14].
One young adult (subject 9) had biochemical evidence over 5 years of a progressive deficiency of brain dopamine but without clinical features of Parkinsonism.
In addition to features associated with deficiency of either MMP9 or Plg, necropsy revealed large obstructive mass lesions in the colon of these mice but not in MMP9 −/−, Plg −/− or wild-type (WT) controls.
Here, we describe the first human case of CDKN1 B deficiency, which recapitulates features of the murine CDKN1 B knockout mouse model, including gigantism and neurodevelopmental defects.
This reference deficiency significantly reduces the power of feature-based parametric modeling, where geometry re-evaluation generates unexpected shapes.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com