Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia
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This paper analyses the fragmentation of kidney stones by direct impact with Swiss Lithoclast Master(R). Based on a previous work, the impact of the probe of the Lithoclast is modeled with a displacement control of the nodes inside the impacted area. Diffe ...
The feasibility of using chemometric techniques for the automatic detection of whether a rabbit kidney is pathological or not is studied. Sequential images of the kidney are acquired using Dynamic Contrast-Enhanced Magnetic Resonance Imaging with contrast ...
Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. Th ...
The kidney is a key organ in the maintenance of ion and fluid homeostasis and specific transport systems localized along the nephron guarantee this function. Due to its large functional heterogeneity, experiments on the whole organ level cannot be easily p ...
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Tumor progression is a multistep process in which proproliferation mutations must be accompanied by suppression of senescence. In melanoma, proproliferative signals are provided by activating mutations in NRAS and BRAF, whereas senescence is bypassed by in ...
We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, ren ...
