The biological basis and function of GNAS mutation in pseudomyxoma peritonei: a review
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cancer Research and Clinical Oncology"
DOI: 10.1007/s00432-020-03321-8
Abstract: Pseudomyxoma peritonei (PMP) is a rare clinical malignancy syndrome characterized by the uncontrollable accumulation of copious mucinous ascites in the peritoneal cavity, resulting in “jelly belly”. The mechanism of tumor progression and mucin hypersecretion remains… read more here.
Keywords: pseudomyxoma peritonei; review; mutation; gnas mutation ... See more keywords
Clinical assessment of the GNAS mutation status in patients with intraductal papillary mucinous neoplasm of the pancreas
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DOI: 10.1007/s00595-019-01797-7
Abstract: Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is characterized by cystic dilation of the pancreatic duct, caused by mucin hypersecretion, with slow progression via the adenoma–carcinoma sequence mechanism. Mutation of GNAS at codon 201… read more here.
Keywords: papillary mucinous; mutation status; gnas mutation; intraductal papillary ... See more keywords
A Novel GNAS Mutation Causing Isolated Infantile Cushing’s Syndrome
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DOI: 10.1159/000501169
Abstract: Infantile Cushing’s syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait… read more here.
Keywords: infantile cushing; cushing syndrome; gnas mutation; novel gnas ... See more keywords