Insights From Genetic Disorders of Phosphate Homeostasis

Genetic aspects of autism spectrum disorders: insights from animal models

Autism spectrum disorders (ASDs) are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology ...

Genetic disorders of renal phosphate transport.

Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders.

Metabolic acidosis is associated with increased urinary calcium excretion and related sequelae, including nephrocalcinosis and nephrolithiasis. The increased urinary calcium excretion induced by metabolic acidosis predominantly results from increased mobilization of calcium out of bone and inhibition of calcium transport processes within the renal tubule. The mechanisms whereby acid alters the ...

Insights from developmental disorders

When one assesses the language abilities of children and adults with developmental disorders, it is not uncommon to find an uneven profile across the sub-domains of language. Standardized tests for various aspects of language can exhibit a differential relationship compared both to each other and to overall (average) mental age (MA). For example, in a comparison of Down syndrome (DS), Williams ...

Vascular homeostasis: insights from a fibrotic mouse

delivery of cancer chemotherapeu-tic agents depends on the permeability of the tumor vasculature. The natural hyperper-meability of tumor vessels increases absorption of macromolecular drugs into tumor tissue, suggesting that further enhancement of this process could be beneficial to the treatment of cancer (Baban and Seymour, 1998). Numerous studies have demonstrated that collagen, the most ab...