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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease adenomatous polyposis coli
Comorbidity C0032580|adenomatous polyposis
Sentences 7
PubMedID- 21765995 Epigenetic gatekeepers such as cyclin-dependent kinase inhibitor 2a (cdkn2a/p16), secreted frizzled-related protein (sfrp), gata-binding protein 4 and 5 (gata-4 and -5), and adenomatous polyposis of the colon (apc) prevent early tumor progression in colon cancer.
PubMedID- 24466159 In colorectal cancer cells, frequent mutations are observed in apc, the responsible gene for familial adenomatous polyposis of the colon, and β-catenin (ctnnb1)[4], [7].
PubMedID- PMC3518159 The studies have encompassed over 30 families with juvenile polyposis syndrome and phts, over 40 families with peutz-jeghers syndrome and almost 600 families with familial adenomatous polyposis of the colon.
PubMedID- 21315632 A 17-year-old boy with adenomatous polyposis and a history of an adenomatous polyposis coli (apc) gene mutation (ivs13(-2) a>g) presented for evaluation of vertical, binocular diplopia.
PubMedID- 22908982 In addition, the founder mutations leading to adenomatous polyposis of the colon and the hepatocerebral mitochondrial dna depletion syndrome are reported on the same haplotypes only among tunisian and moroccan patients [41,42].
PubMedID- 22120905 Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis.
PubMedID- 23519466 Fap1 also interacts with the adenomatous polyposis coli (apc) protein, but the functional significance of this interaction is unknown.

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