Pyruvate kinase (PKLR) is a critical erythrocyte enzyme that is required for glycolysis and
production of ATP. We have shown that Pklr deficiency in mice reduces the severity (reduced …

In the mouse, the loop−tail mutation (Lp) causes a very severe neural tube defect, which is
caused by mutations in the Vangl2 gene. In mammals, Vangl1 and Vangl2 code for integral …

In vertebrates, Vangl proteins play important roles during embryogenesis, including
establishing planar polarity and coordinating convergent extension movements. In mice, …

Loop-tail (Lp) mice show a very severe neural tube defect (craniorachischisis) caused by
mutations in the Vangl2 gene (D255E, S464N). Mammalian Vangl1 and Vangl2 are membrane …

Objective. To develop a weighted summary score for the Medsger Disease Severity Scale (DSS)
and to compare its measurement properties with those of a summed DSS score and a …

The mammalian Vangl1 and Vangl2 genes were discovered a decade ago through their
association with neural tube defects, in particular the presence of Vangl2 mutations in …

Vangl2 plays a critical role in the establishment of planar cell polarity (PCP). Previously, we
detected expression of Vangl2 in the developing retina during late embryogenesis, which led …

Vangl1 and Vangl2 are membrane proteins that play an important role in neurogenesis, and
Vangl1/Vangl2 mutations cause neural tube defects in mice and humans. At the cellular …

In the immunocompromised host, invasive infection with the fungal pathogen Candida
albicans is associated with high morbidity and mortality. Sporadic cases in otherwise normal …

Vangl1 and Vangl2 are integral membrane proteins that play a critical role in establishing
planar cell polarity (PCP) in epithelial cells and are required for convergent extension (CE) …