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SALL3 has been implicated in 18q- syndrome with multiple organ defects.
Multiple organ defects, including in the kidneys and gonads, have been reported in Wt1 knockout mice [78].
Human SALL4 mutations are associated with the Duane-radial ray syndrome (DRRS, OMIM 126800, also known as Okihiro syndrome), which is a human autosomal-dominant syndrome involving multiple organ defects, including kidney malformation [1], [13] [15].
Type 2 diabetes is caused by multiple organ defects, with inadequate insulin secretion and insulin resistance being the most important.
The close associations between single gene mutations and multiple organ defects (e.g. Smith-Lemli-Opitz syndrome[ 30]) further questions the prospective utility of classifying the resulting syndromes rather than causes of inductive or disruptive effects.
Although ORPK mice have multiple organ defects including cystic kidneys, hydrocephalus, liver fibrosis, pancreatitis and retinal degeneration (39– 41), they survive to adulthood on a C57BL/6 background and otherwise appear to be normal.
Similar(53)
Oxygen delivery does not appear to be the limiting factor in multiple organ failure, suggesting a defect in cellular oxygen use, which in turn would point to mitochondrial dysfunction as a pathogenic mechanism in sepsis-induced organ failure [ 47].
Dph1 is also essential to mouse development as the Ovca1−/− mice die during embryonic development and at birth with developmental delay and defects in multiple organ systems.
These include thymic defects and multiple organ lymphocytic infiltrations characteristic of self-autoreactivity [ 51- 54].
Congenital defects in multiple organ systems were reported for both trisomies, however the percentage of fetuses affected was lower than that reported in other studies [ 11, 23].
The affected individual survived embryonic development but presented at about 2.5 months of age with multiple organ system failure, severe neurological defects (hypotonia, hypoventilation and seizures), dysmorphic features and progressive hepatomegaly (De Praeter et al., 2000).
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