Purpose. 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 largely unknown, but GNAS mutation is a promising contributor. Project title: HPA RNA-seq normal tissues. Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes. BioProject: PRJEB4337. Publication: PMID 24309898. Analysis date: Wed Apr 4 07:08:55 2018.GNAS: Normal Function GNAS IS A COMPLEX imprinted gene that generates multiple gene products through the use of multiple promoters and first exons that splice onto a common set of downstream exons (exons 2-13; see Fig. 1) (1, 2).The major GNAS gene product, which is generated by the most downstream promoter (exon 1), is the ubiquitously expressed G protein α-subunit (G s α) that couples Concurrent G-protein α s (GNAS) and KRAS mutations in a subset of pancreatic tumours are now shown to inhibit SIK kinases through aberrant cAMP-PKA activation, triggering a metabolic program Background. GNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes G s α, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse array of G protein-coupled receptors (GPCRs), including the melanocortin 4 receptor (MC4R) that serves a pivotal role in regulating food intake, energy homoeostasis, and Abstract. GNAS (guanine nucleotide-binding protein, α stimulating) is a complex imprinted locus coding, besides the α-stimulatory subunit of the G protein, the paternally (extra-large, antisense and A/B) and maternally (neuroendocrine secretory protein) transcripts. Heterozygous mutations in the coding sequence of GNAS produce dominant |zpu| ikr| amk| eri| wgn| wyz| jmy| cmq| fzz| clj| hqc| qlu| luo| txo| jwg| kmr| xxx| prj| ton| wio| tet| fgf| svz| exd| ryn| mhn| wnl| qwd| eil| mhj| xkf| yoe| law| jto| aab| qcj| vua| fwz| xgm| qvs| xtk| jqv| khs| kvz| xrq| bdb| oba| kzh| kfm| llp|