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https://www.readbyqxmd.com/read/28055239/the-evolving-role-of-pathology-in-new-developments-classification-terminology-and-diagnosis-of-pancreatobiliary-neoplasms
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
December 19, 2016: 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
#9
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)...
December 14, 2016: 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
#10
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
#11
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
https://www.readbyqxmd.com/read/27939373/molecular-classification-of-hepatocellular-adenoma-associates-with-risk-factors-bleeding-and-malignant-transformation
#12
Jean Charles Nault, Gabrielle Couchy, Charles Balabaud, Guillaume Morcrette, Stefano Caruso, Jean-Frederic Blanc, Yannick Bacq, Julien Calderaro, Valérie Paradis, Jeanne Ramos, Jean-Yves Scoazec, Viviane Gnemmi, Nathalie Sturm, Catherine Guettier, Monique Fabre, Eric Savier, Laurence Chiche, Philippe Labrune, Janick Selves, Dominique Wendum, Camilla Pilati, Alexis Laurent, Anne De Muret, Brigitte Le Bail, Sandra Rebouissou, Sandrine Imbeaud, Paulette Bioulac-Sage, Eric Letouzé, Jessica Zucman-Rossi
BACKGROUND & AIMS: Hepatocellular adenomas (HCA) are benign liver tumors that can be assigned to molecular subtypes based on inactivating mutations in HNF1A, activating mutations in β-catenin, or activation of inflammatory signaling pathways. We aimed to update the classification system for HCA and associate the subtypes with disease risk factors and complications. METHODS: We analyzed expression levels of 20 genes and sequenced exon regions of 8 genes (HNF1A, IL6ST, CTNNB1, FRK, STAT3, GNAS, JAK1, and TERT) in 607 samples of 533 HCAs from 411 patients, collected from 28 centers mainly in France from 2000 and 2014...
December 7, 2016: Gastroenterology
https://www.readbyqxmd.com/read/27938333/pseudomyxoma-peritonei-of-a-mature-ovarian-teratoma-caused-by-mismatch-repair-deficiency-in-a-patient-with-lynch-syndrome-a-case-report
#13
Yoshimasa Gohda, Rei Noguchi, Tomoko Horie, Toru Igari, Harumi Nakamura, Yasunori Ohta, Kiyoshi Yamaguchi, Tsuneo Ikenoue, Seira Hatakeyama, Nozomi Yusa, Yoichi Furukawa, Hideaki Yano
BACKGROUND: Pseudomyxoma peritonei (PMP) is a rare disease with an estimated incidence of 1-2 cases per million individuals per year. PMP is characterized by the accumulation of abundant mucinous or gelatinous fluid derived from disseminated tumorous cells. Most of the tumorous cells are originated from rupture of appendiceal neoplasms, but some are from the metastasis of cancer of the colon, ovary, fallopian tube, urachus, colorectum, gallbladder, stomach, pancreas, lung and breast. Although frequent mutations in KRAS and/or GNAS genes have been reported, precise molecular mechanism underlying PMP remains to be elucidated...
December 9, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#14
Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27895044/polymorphisms-in-the-gnas-gene-as-predictors-of-ventricular-tachyarrhythmias-and-sudden-cardiac-death-results-from-the-discovery-trial-and-oregon-sudden-unexpected-death-study
#15
Heinrich Wieneke, Jesper Hastrup Svendsen, Jeffrey Lande, Sebastian Spencker, Juan Gabriel Martinez, Bernhard Strohmer, Lauri Toivonen, Hervé Le Marec, F Javier Garcia-Fernandez, Domenico Corrado, Adriana Huertas-Vazquez, Audrey Uy-Evanado, Carmen Rusinaru, Kyndaron Reinier, Csaba Foldesi, Wieslaw Hulak, Sumeet S Chugh, Winfried Siffert
BACKGROUND: Population-based studies suggest that genetic factors contribute to sudden cardiac death (SCD). METHODS AND RESULTS: In the first part of the present study (Diagnostic Data Influence on Disease Management and Relation of Genetic Polymorphisms to Ventricular Tachy-arrhythmia in ICD Patients [DISCOVERY] trial) Cox regression was done to determine if 7 single-nucleotide polymorphisms (SNPs) in 3 genes coding G-protein subunits (GNB3, GNAQ, GNAS) were associated with ventricular tachyarrhythmia (VT) in 1145 patients receiving an implantable cardioverter-defibrillator (ICD)...
November 28, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27883876/comprehensive-genomic-profiling-of-central-giant-cell-lesions-identifies-clinically-relevant-genomic-alterations
#16
Brett Bezak, Heidi Lehrke, Julia Elvin, Laurie Gay, David Schembri-Wismayer, Christopher Viozzi
PURPOSE: Comprehensive genomic profiling (CGP) can simultaneously detect clinically relevant genomic alterations (CRGAs) in hundreds of cancer-related genes and direct treatment toward patient-specific therapy options for many tumors. This pilot study aimed to use CGP to describe CRGAs present in central giant cell lesions (CGCLs) to characterize any possible underlying genomic drivers of CGCLs. MATERIALS AND METHODS: With institutional review board approval, electronic medical records were searched for patients with histologically confirmed CGCLs who underwent biopsy at Mayo Clinic from 2000 through 2014...
November 1, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27871293/genetic-and-epigenetic-alterations-in-the-gnas-locus-and-clinical-consequences-in-pseudohypoparathyroidism-italian-common-healthcare-pathways-adoption
#17
L de Sanctis, F Giachero, G Mantovani, G Weber, M Salerno, G I Baroncelli, M F Elli, P Matarazzo, M Wasniewska, L Mazzanti, G Scirè, D Tessaris
BACKGROUND: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders...
November 21, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27864998/rnf43-mutation-frequently-occurs-with-gnas-mutation-and-mucin-hypersecretion-in-intraductal-papillary-neoplasms-of-the-bile-duct
#18
Jia-Huei Tsai, Jau-Yu Liau, Chang-Tsu Yuan, Mei-Ling Cheng, Ray-Hwang Yuan, Yung-Ming Jeng
RNF43 is a tumor suppressor gene that is frequently mutated in intraductal papillary mucinous neoplasms of the pancreas (IPMN). RNF43 suppresses the Wnt/β-catenin signaling pathway. We conducted mutation analysis of RNF43 in intraductal papillary neoplasms of the bile duct (IPNBs) and identified RNF43 mutation in 6 (12%) out of 50 IPNBs. RNF43 mutation was more frequent in the intestinal subtype of IPNB (17%) than in the gastric/pancreatobiliary subtype (5%). There were a strong association of RNF43 mutation with GNAS (P = ...
November 16, 2016: Histopathology
https://www.readbyqxmd.com/read/27785422/genetics-and-biological-markers-in-urachal-cancer
#19
REVIEW
Mark A Behrendt, Bas W G van Rhijn
Urachal cancer (UraC) is a rare tumor entity that usually develops at the basis of the remnant embryologic urachus. Consisting of mostly adenocarcinomas, most patients present with secondary symptoms due to an advanced stage with urinary bladder infiltration. One third of patients are already metastasized at presentation rendering them unsuitable for curative surgical treatment. In order to improve staging, treatment and follow-up, adequate knowledge about the genetic origin and potential markers is necessary...
October 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27774052/altered-expression-of-genes-encoding-neurotransmitter-receptors-in-gnrh-neurons-of-proestrous-mice
#20
Csaba Vastagh, Annie Rodolosse, Norbert Solymosi, Zsolt Liposits
Gonadotropin-releasing hormone (GnRH) neurons play a key role in the central regulation of reproduction. In proestrous female mice, estradiol triggers the pre-ovulatory GnRH surge, however, its impact on the expression of neurotransmitter receptor genes in GnRH neurons has not been explored yet. We hypothesized that proestrus is accompanied by substantial changes in the expression profile of genes coding for neurotransmitter receptors in GnRH neurons. We compared the transcriptome of GnRH neurons obtained from intact, proestrous, and metestrous female GnRH-GFP transgenic mice, respectively...
2016: Frontiers in Cellular Neuroscience
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