Short E, Sampson J. The role of inherited genetic variants in colorectal polyposis syndromes. Adv Genet. 2019;103:183-217 pubmed publisher
..It is important to identify patients with an inherited polyposis syndrome, and to define the mutations causing their polyposis, so that the individuals and their relatives can be managed appropriately. ..
Sampson J. Therapeutic targeting of mTOR in tuberous sclerosis. Biochem Soc Trans. 2009;37:259-64 pubmed publisher
..These promising pre-clinical and early human trials are being followed by larger-scale randomized control trials of mTOR inhibitors for treatment of renal, lung and brain manifestations of TSC1- and TSC2-associated disease. ..
Sampson J. TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis. Biochem Soc Trans. 2003;31:592-6 pubmed
..Drugs that act to inhibit this pathway may have therapeutic potential for tuberous sclerosis and the related disorder lymphangioleiomyomatosis. ..
Sampson J, Dolwani S, Jones S, Eccles D, Ellis A, Evans D, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003;362:39-41 pubmed
..Since our data show that MYH polyposis can be transmitted as an autosomal recessive trait, a change in genetic counselling, testing, and surveillance is needed. ..