An assessment of risk understanding in Hispanic genetic counseling patients.

This study sought to identify if differences existed in risk comprehension and risk format understanding between genetic counseling patients of Hispanic and Caucasian ethnicity. A total of 107 questionnaires were collected, 56 from Hispanic patients, and 51 from Caucasian controls. Of the total population 41.

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

Tuberous sclerosis is an autosomal dominant human disorder caused by inactivating mutations to either the TSC1 or TSC2 tumour suppressor gene. Hamartin and tuberin, the TSC1 and TSC2 gene products, interact and the tuberin-hamartin complex inhibits cell growth by antagonising signal transduction to downstream effectors of the mammalian target of rapamycin (mTOR) through the small GTPase rheb. Previously, we showed that pathogenic tuberin amino-acid substitutions disrupt the tuberin-hamartin complex.