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https://www.readbyqxmd.com/read/28216128/mucinous-cystadenoma-in-children-and-adolescents
#1
Renee A Cowan, Erin N Haber, Fabio R Faucz, Constantine A Stratakis, Veronica Gomez-Lobo
STUDY OBJECTIVE: Mucinous cystadenomas (MCAs) are benign epithelial ovarian tumors that occur rarely in children and adolescents. As children and adolescents typically have their childbearing years ahead of them, conservative therapy is indicated. However, there is concern that ovarian cystectomy may be associated with significant recurrence risk in MCA. Furthermore, GNAS gene mutations are associated with McCune-Albright Syndrome, which is associated with cystic ovaries. We sought to evaluate the outcomes of children and adolescents with MCA treated conservatively...
February 16, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28188630/genetic-analyses-of-isolated-high-grade-pancreatic-intraepithelial-neoplasia-hg-panin-reveal-paucity-of-alterations-in-tp53-and-smad4
#2
Waki Hosoda, Peter Chianchiano, James F Griffin, Meredith E Pittman, Lodewijk A A Brosens, Michaël Noë, Jun Yu, Koji Shindo, Masaya Suenaga, Neda Rezaee, Raluca Yonescu, Yi Ning, Jorge Albores-Saavedra, Naohiko Yoshizawa, Kenichi Harada, Akihiko Yoshizawa, Keiji Hanada, Shuji Yonehara, Michio Shimizu, Takeshi Uehara, Jaswinder S Samra, Anthony J Gill, Christopher L Wolfgang, Michael G Goggins, Ralph H Hruban, Laura D Wood
High-grade pancreatic intraepithelial neoplasia (HG-PanIN) is the major precursor of pancreatic ductal adenocarcinoma (PDAC) and is an ideal target for early detection. To characterize pure HG-PanIN, we analysed 23 isolated HG-PanIN lesions occurring in the absence of PDAC. Whole-exome sequencing of five of these HG-PanIN lesions revealed a median of 33 somatic mutations per lesion, with a total of 318 mutated genes. Targeted next-generation sequencing of 17 HG-PanIN lesions identified KRAS mutations in 94% of the lesions...
February 11, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28188442/patients-with-mccune-albright-syndrome-have-a-broad-spectrum-of-abnormalities-in-the-gastrointestinal-tract-and-pancreas
#3
Laura D Wood, Michaël Noë, Wenzel Hackeng, Lodewijk A A Brosens, Feriyl Bhaijee, Marija Debeljak, Jun Yu, Masaya Suenaga, Aatur D Singhi, Atif Zaheer, Alison Boyce, Cemre Robinson, James R Eshleman, Michael G Goggins, Ralph H Hruban, Michael T Collins, Anne Marie Lennon, Elizabeth A Montgomery
McCune-Albright Syndrome (MAS) is a rare sporadic syndrome caused by post-zygotic mutations in the GNAS oncogene, leading to constitutional mosaicism for these alterations. Somatic activating GNAS mutations also commonly occur in several gastrointestinal and pancreatic neoplasms, but the spectrum of abnormalities in these organs in patients with MAS has yet to be systematically described. We report comprehensive characterization of the upper gastrointestinal tract in seven patients with MAS and identify several different types of polyps, including gastric heterotopia/metaplasia (7/7), gastric hyperplastic polyps (5/7), fundic gland polyps (2/7), and a hamartomatous polyp (1/7)...
February 10, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28179590/whole-exome-sequencing-identified-mutational-profiles-of-high-grade-colon-adenomas
#4
Sung Hak Lee, Seung Hyun Jung, Tae-Min Kim, Je-Keun Rhee, Hyeon-Chun Park, Min Sung Kim, Sung Soo Kim, Chang Hyeok An, Sug Hyung Lee, Yeun-Jun Chung
Although gene-to-gene analyses identified genetic alterations such as APC, KRAS and TP53 mutations in colon adenomas, it is largely unknown whether there are any others in them. Mutational profiling of high-grade colon adenoma (HGCA) that just precedes colon carcinoma might identify not only novel adenoma-specific genes but also critical genes for its progression to carcinoma. For this, we performed whole-exome sequencing (WES) of 12 HGCAs and identified 11 non-hypermutated and one hypermutated (POLE-mutated) cases...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28164369/gnas-mutations-are-present-in-colorectal-traditional-serrated-adenomas-serrated-tubulovillous-adenomas-and-serrated-adenocarcinomas-with-adverse-prognostic-features
#5
Cheng Liu, Diane M McKeone, Neal I Walker, Mark L Bettington, Barbara A Leggett, Vicki L J Whitehall
: Activating mutations in GNAS are important in the development of a range of neoplasms including a small proportion of conventional adenomas and colorectal carcinomas (CRCs). However, their contribution to serrated pathway neoplasia is unclear as mutations have only been examined in small series of sessile serrated adenomas (SSAs) and traditional serrated adenomas (TSAs), and not in serrated tubulovillous adenomas (sTVAs). AIMS: To investigate the frequency and significance of GNAS mutations in colorectal adenomas and CRCs...
February 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28160572/karyotyping-and-analysis-of-gnas-locus-in-intramuscular-myxomas
#6
Ioannis Panagopoulos, Ludmila Gorunova, Ingvild Lobmaier, Bodil Bjerkehagen, Sverre Heim
Intramuscular myxoma is a benign soft tissue tumor about which very limited genetic information exists. We studied 68 intramuscular myxomas by means of chromosome banding analysis finding abnormal karyotypes in 21 of them. The most clearly nonrandom involvement was of chromosome 8 which was found gained in seven tumors (+8 was the sole change in five myxomas) and structurally rearranged in another two. Since mutation of the gene GNAS (20q13) has been implicated in the pathogenesis of both solitary and hereditary multiple myxomas, we assessed the transcription and mutation status of this gene in five tumors from which we had suitable RNA...
February 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28131743/novel-genes-involved-in-pathophysiology-of-gonadotropin-dependent-adrenal-tumors-in-mice
#7
Milena Doroszko, Marcin Chrusciel, Kirstine Belling, Susanna Vuorenoja, Marlene Dalgaard, Henrik Leffers, H Bjørn Nielsen, Ilpo Huhtaniemi, Jorma Toppari, Nafis A Rahman
Specific inbred strains and transgenic inhibin-α Simian Virus 40 T antigen (inhα/Tag) mice are genetically susceptible to gonadectomy-induced adrenocortical neoplasias. We identified altered gene expression in prepubertally gonadectomized (GDX) inhα/Tag and wild-type (WT) mice. Besides earlier reported Gata4 and Lhcgr, we found up-regulated Esr1, Prlr-rs1, and down-regulated Grb10, Mmp24, Sgcd, Rerg, Gnas, Nfatc2, Gnrhr, Igf2 in inhα/Tag adrenal tumors. Sex-steroidogenic enzyme genes expression (Srd5a1, Cyp19a1) was up-regulated in tumors, but adrenal-specific steroidogenic enzyme (Cyp21a1, Cyp11b1, Cyp11b2) down-regulated...
January 25, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28126546/management-of-undifferentiated-solitary-mucinous-cystic-lesion-of-the-pancreas-a-clinical-dilemma
#8
Alexandra M Roch, Katherine Bigelow, Christian M Schmidt, Rosalie A Carr, Andrea L Jester, Eugene P Ceppa, Michael G House, Nicholas J Zyromski, Attila Nakeeb, C Max Schmidt
BACKGROUND: Management of solitary mucinous cystic lesions of the pancreas (MCLs) relies on correct differentiation between branch-duct intraductal papillary mucinous neoplasm(BD-IPMN) and mucinous cystic neoplasm(MCN). Current international consensus guidelines recommend resection for MCN, whereas unifocal BD-IPMN may be followed in the absence of worrisome features/high-risk stigmata. We hypothesized that preoperative differentiation of solitary MCLs is suboptimal, and that all solitary MCLs should be treated similarly...
January 23, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/28117839/the-genetic-overlap-between-mood-disorders-and-cardiometabolic-diseases-a-systematic-review-of-genome-wide-and-candidate-gene-studies
#9
REVIEW
A T Amare, K O Schubert, M Klingler-Hoffmann, S Cohen-Woods, B T Baune
Meta-analyses of genome-wide association studies (meta-GWASs) and candidate gene studies have identified genetic variants associated with cardiovascular diseases, metabolic diseases and mood disorders. Although previous efforts were successful for individual disease conditions (single disease), limited information exists on shared genetic risk between these disorders. This article presents a detailed review and analysis of cardiometabolic diseases risk (CMD-R) genes that are also associated with mood disorders...
January 24, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28055239/the-evolving-role-of-pathology-in-new-developments-classification-terminology-and-diagnosis-of-pancreatobiliary-neoplasms
#10
Michelle D Reid, Melinda M Lewis, Field F Willingham, Volkan Adsay
Pancreatobiliary tract lesions are increasingly being discovered because of more sensitive imaging modalities. Magnetic resonance imaging has identified incidental pancreatic cysts in 13.5% of patients of progressively increasing age. Pancreatobiliary tissue is more accessible through endoscopic ultrasound and magnetic resonance imaging-guided biopsy procedures, and is now an integral part of pathologists' routine practice. Accordingly, several new tumor categories have been recently recognized, including intraductal tubulopapillary neoplasm, a new addition to tumoral intraepithelial neoplasms...
January 5, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28051330/g-protein-alpha-s-subunit-promotes-cell-proliferation-of-renal-cell-carcinoma-with-involvement-of-protein-kinase-a-signaling
#11
Bo Zhang, Nan Sun, Xin Mu, Lei Zhi, Lei Zhai, Yuan Jiang, Zheng Fu, Zhi Yao
Heterotrimeric G proteins, which are composed of Gα and Gβγ subunits, transduce signals sensed by the coupled surface receptors. Aberrant expressions of G proteins have been observed in many cancer types. This study aimed to determine the expression level of the stimulatory G protein alpha S subunit (Gαs, the main transcript encoded by the GNAS locus) and its biological function in renal cell carcinoma (RCC). Western blotting and quantitative reverse transcription-PCR results show that Gαs expression dramatically increased in RCC cell lines (ACHN, GRC-1, and 786-O) compared to normal renal epithelial cells HK-2...
January 4, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28043906/heterotrimeric-g-stimulatory-protein-alpha-subunit-is-required-for-intestinal-smooth-muscle-contraction-in-mice
#12
Xiaoteng Qin, Shangming Liu, Qiulun Lu, Meng Zhang, Xiuxin Jiang, Sanyuan Hu, Jingxin Li, Cheng Zhang, Jiangang Gao, Min-Sheng Zhu, Yun Zhang, Wencheng Zhang
BACKGROUND & AIMS: The alpha subunit of the heterotrimeric G stimulatory protein (Gsa), encoded by the guanine nucleotide binding protein, alpha stimulating gene (Gnas, in mice), is expressed ubiquitously and mediates receptor-stimulated production of cyclic adenosine monophosphate (cAMP) and activation of the protein kinase A signaling pathway. We investigated the roles of Gsa in vivo in smooth muscle cells of mice. METHODS: We performed studies of mice with Cre recombinase-mediated disruption of Gnas in smooth muscle cells (Gsa(SMKO) and SM22-CreER(T2), induced in adult mice by tamoxifen)...
December 30, 2016: Gastroenterology
https://www.readbyqxmd.com/read/27998919/impact-of-aip-and-inhibitory-g-protein-alpha-2-proteins-on-clinical-features-of-sporadic-gh-secreting-pituitary-adenomas
#13
Elina Ritvonen, Esa Pitkänen, Atte Karppinen, Satu Vehkavaara, Hande Demir, Anders Paetau, Camilla Schalin-Jäntti, Auli Karhu
INTRODUCTION: In sporadic acromegaly, downregulation of AIP protein of the adenomas associates with invasive tumor features and reduced responsiveness to somatostatin analogues. AIP is a regulator of Gai signaling, but it is not known how the biological function of the Gai pathway is controlled. AIM: To study GNAS and AIP mutation status, AIP and Gai-2 protein expressions, Ki-67 proliferation indices and clinical parameters in patients having primary surgery because of acromegaly at a single center between years 2000 and 2010...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27995443/pseudohypoparathyroidism-one-gene-several-syndromes
#14
REVIEW
O Tafaj, H Jüppner
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsα expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsα protein in the presence of maternal GNAS mutations, thus leading to PTH-resistant hypocalcemia and hyperphosphatemia...
December 19, 2016: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/27995180/endoscopic-ultrasound-guided-fine-needle-aspiration-plus-kras-and-gnas-mutation-in-malignant-intraductal-papillary-mucinous-neoplasm-of-the-pancreas
#15
Barbara Bournet, Alix Vignolle-Vidoni, David Grand, Céline Roques, Florence Breibach, Jérome Cros, Fabrice Muscari, Nicolas Carrère, Janick Selves, Pierre Cordelier, Louis Buscail
Background:KRAS and GNAS mutations are common in intraductal papillary mucinous neoplasia of the pancreas (IPMN). The aims of this study were to assess the role of pre-therapeutic cytopathology combined with KRAS and GNAS mutation assays within cystic fluid sampled by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) to predict malignancy of IPMN. Patients and methods: We prospectively included 37 IPMN patients with clinical and/or imaging predictors of malignancy (men: 24; mean age: 69.5 years)...
December 2016: Endoscopy International Open
https://www.readbyqxmd.com/read/27995148/investigation-of-the-effects-and-mechanisms-of-mai-tong-formula-on-lower-limb-macroangiopathy-in-a-spontaneous-diabetic-rat-model
#16
Guangming Gong, Haipo Yuan, Ya Liu, Luguang Qi
A new Chinese herbal formula called Mai Tong Formulae (MTF) has recently been used to treat lower limb macroangiopathy in type 2 diabetes mellitus (T2DM) patients. In this study, we investigated the effect of MTF on lower limb macroangiopathy in a spontaneous diabetic rat model (GK rats). We found that MTF treatment significantly reduced serum fasting blood glucose (FBG), triglycerides (TG), total cholesterol (TC), IL6, and VEGF and increased serum insulin in this model. Histological and ultrastructural observations showed that MTF treatment significantly reduced vascular endothelial cell shedding and improved endothelium injuries...
2016: Journal of Diabetes Research
https://www.readbyqxmd.com/read/27991864/gs%C3%AE-deficiency-in-the-dorsomedial-hypothalamus-underlies-obesity-associated-with-gs%C3%AE-mutations
#17
Min Chen, Yogendra B Shrestha, Brandon Podyma, Zhenzhong Cui, Benedetta Naglieri, Hui Sun, Thuy Ho, Eric A Wilson, Yong-Qi Li, Oksana Gavrilova, Lee S Weinstein
Gsα, encoded by Gnas, mediates hormone and neurotransmitter receptor-stimulated cAMP generation. Heterozygous Gsα-inactivating mutations lead to obesity in Albright hereditary osteodystrophy (AHO) patients, but only when the mutations occur on the maternal allele. This parent-of-origin effect is due to Gsα imprinting in the CNS, although the relevant CNS regions are unknown. We have now shown that mice with a Gnas gene deletion disrupting Gsα expression on the maternal allele, but not the paternal allele, in the dorsomedial nucleus of the hypothalamus (DMH) developed obesity and reduced energy expenditure without hyperphagia...
February 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27984236/duodenal-neoplasms-of-gastric-phenotype-an-immunohistochemical-and-genetic-study-with-a-practical-approach-to-the-classification
#18
Risa Hida, Hidetaka Yamamoto, Minako Hirahashi, Reiko Kumagai, Kenichi Nishiyama, Toshihiro Gi, Motohiro Esaki, Takanari Kitazono, Yoshinao Oda
Duodenal neoplasm of gastric phenotype (DNGP) is very rare, and details of its histopathologic, genetic, and biological features are still unclear. Frequent gene mutations in GNAS, KRAS, and APC have been reported in pyloric gland adenomas and fundic gland-type neoplasms (initially reported as low-grade adenocarcinomas) of the stomach. Here we retrospectively analyzed 16 cases of extra-ampullary DNGP (benign to malignant), and we examined the mucin immunoprofile and oncogene mutations (GNAS, KRAS, APC, BRAF, and CTNNB1)...
March 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27977634/kras-mutations-with-no-gnas-mutations-in-an-intraductal-papillary-mucinous-neoplasm-are-there-common-pathways-with-pancreatic-ductal-adenocarcinoma-lessons-from-an-extended-ipmn-covering-the-entire-pancreas
#19
Athanasios Tampakis, Ekaterini Chistina Tampaki, Alberto Posabella, Andreas Zettl, Gregory Kouraklis, Markus von Flüe, Marc Oliver Guenin
No abstract text is available yet for this article.
January 2017: Pancreas
https://www.readbyqxmd.com/read/27955751/eus-for-pancreatic-cystic-neoplasms-the-roadmap-to-the-future-is-much-more-than-just-a-few-shades-of-gray
#20
REVIEW
Tejas Kirtane, Manoop S Bhutani
Pancreatic cystic and neoplasms are being diagnosed with increasing frequency. Accurate diagnosis and determination of benign versus malignant lesions is crucial for determining need for surveillance versus surgery or endoscopic therapy as well as avoiding unnecessary surgery in cysts with no malignant potential. Tumor markers such as KRAS and GNAS hold promise, but which molecular marker or a combination of markers is most useful and cost effective remains to be seen. Advanced imaging with confocal laser endomicroscopy can serve as an optical biopsy and play a part in the diagnostic algorithm...
December 2016: Asian Pacific Journal of Tropical Medicine
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