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https://www.readbyqxmd.com/read/28335073/clinical-characteristics-and-whole-exome-transcriptome-sequencing-of-coexisting-chronic-myeloid-leukemia-and-myelofibrosis
#1
Malathi Kandarpa, Yi-Mi Wu, Dan Robinson, Patrick William Burke, Arul M Chinnaiyan, Moshe Talpaz
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell (HSC) disorders that can be classified on the basis of genetic, clinical, phenotypic features. Genetic lesions such as JAK2 mutations and BCR-ABL translocation are often mutually exclusive in MPN patients and lead to essential thrombocythemia, polycythemia vera or myelofibrosis (ET/PV/MF) or chronic myeloid leukemia, respectively. Nevertheless, coexistence of these genetic aberrations in the same patient has been reported. Whether these aberrations occur in the same stem cell or a different cell is unclear, but an unstable genome in the HSCs seems to be the common antecedent...
March 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28334704/combining-real-time-cold-and-mama-pcr-taqman-techniques-to-detect-and-quantify-r201-gnas-mutations-in-the-mccune-albright-syndrome%C3%A2
#2
Luisa de Sanctis, Ilaria Galliano, Paola Montanari, Patrizia Matarazzo, Daniele Tessaris, Massimiliano Bergallo
BACKGROUND/AIM: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients. METHODS: Real-time COLD- and MAMA-PCR TaqMan techniques were combined to search for R201 mutations in the DNA of blood or affected tissues from 16 previously molecularly characterized MAS patients, from a further 84 subjects with MAS signs who were R201 negative at RFLP analysis, and from 36 controls...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28323910/progressive-development-of-pth-resistance-in-patients-with-inactivating-mutations-on-the-maternal-allele-of-gnas
#3
Alessia Usardi, Asmaa Mamoune, Elodie Nattes, Jean-Claude Carel, Anya Rothenbuhler, Agnès Linglart
Background: PTH resistance is characterized by hypocalcaemia, hyperphosphatemia and elevated PTH in absence of vitamin D deficiency. Pseudohypoparathyroidism (PHP) type 1A (or iPPSD2, inactivating Signaling PTH/PTHrp Disorder 2 according to the new classification) is caused by mutations in the maternal GNAS allele. Objective: To assess PTH resistance over time in 20 patients affected by iPPSD2 (PHP1A), diagnosed because of family history, ectopic ossification or short stature and carrying a GNAS mutation...
February 21, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28280620/potential-actionable-targets-in-appendiceal-cancer-detected-by-immunohistochemistry-fluorescent-in-situ-hybridization-and-mutational-analysis
#4
Erkut Borazanci, Sherri Z Millis, Jeffery Kimbrough, Nancy Doll, Daniel Von Hoff, Ramesh K Ramanathan
BACKGROUND: Appendiceal cancers are rare and consist of carcinoid, mucocele, pseudomyxoma peritonei (PMP), goblet cell carcinoma, lymphoma, and adenocarcinoma histologies. Current treatment involves surgical resection or debulking, but no standard exists for adjuvant chemotherapy or treatment for metastatic disease. METHODS: Samples were identified from approximately 60,000 global tumors analyzed at a referral molecular profiling CLIA-certified laboratory. A total of 588 samples with appendix primary tumor sites were identified (male/female ratio of 2:3; mean age =55)...
February 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28263231/appendix-derived-pseudomyxoma-peritonei-pmp-molecular-profiling-toward-treatment-of-a-rare-malignancy
#5
Elizabeth M Gleeson, Rebecca Feldman, Beth L Mapow, Lynn T Mackovick, Kristine M Ward, William F Morano, Rene R Rubin, Wilbur B Bowne
OBJECTIVES: Pseudomyxoma peritonei (PMP) is a rare malignancy originating from the appendix, characterized by disseminated mucinous tumor implants on peritoneal surfaces. We examined the role of multiplatform molecular profiling to study biomarker-guided treatment strategies for this rare malignancy. METHODS: A total of 54 patients with appendix-derived PMP were included in the study. Tests included one or more of the following: gene sequencing (Sanger or next generation sequencing), protein expression (immunohistochemistry), and gene amplification (C/fluorescent in situ hybridization)...
March 3, 2017: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28258512/two-cases-of-mazabraud-syndrome-and-identification-of-a-gnas-r201h-mutation-by-next-generation-sequencing
#6
Jesse L Cox, Allison M Cushman-Vokoun, Sean V McGarry, Jessica A Kozel
No abstract text is available yet for this article.
March 3, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28239886/fibrocartilaginous-mesenchymoma-of-bone-a-single-institution-experience-with-molecular-investigations-and-a-review-of-the-literature
#7
M Gambarotti, A Righi, D Vanel, S Cocchi, S Benini, F M Elli, G Mantovani, P Ruggieri, S Boriani, D Donati, M Sbaraglia, A P Dei Tos, P Picci
AIMS: Fibrocartilaginous mesenchymoma is a rare intraosseous lesion with a total of 25 cases described in the literature. This study describes the clinical, radiological, and histological features of eight new cases of fibrocartilaginous mesenchymoma collected at a single institution between 1982 and 2016. The presence of GNAS and IDH1/2 mutations and MDM2 amplification was explored to evaluate possible links between fibrocartilaginous mesenchymoma, fibrous dysplasia, dedifferentiated chondrosarcoma, and low-grade osteosarcoma...
February 26, 2017: Histopathology
https://www.readbyqxmd.com/read/28229982/circulating-free-dna-mutation-associated-with-response-of-targeted-therapy-in-human-epidermal-growth-factor-receptor-2-positive-metastatic-breast-cancer
#8
Qing Ye, Fan Qi, Li Bian, Shao-Hua Zhang, Tao Wang, Ze-Fei Jiang
BACKGROUND: The addition of anti-human epidermal growth factor receptor 2 (HER2)-targeted drugs, such as trastuzumab, lapatinib, and trastuzumab emtansine (T-DM1), to chemotherapy significantly improved prognosis of HER2-positive breast cancer patients. However, it was confused that metastatic patients vary in the response of targeted drug. Therefore, methods of accurately predicting drug response were really needed. To overcome the spatial and temporal limitations of biopsies, we aimed to develop a more sensitive and less invasive method of detecting mutations associated with anti-HER2 therapeutic response through circulating-free DNA (cfDNA)...
March 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28216128/mucinous-cystadenoma-in-children-and-adolescents
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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%C3%A2-clinical-dilemma
#16
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, and unifocal BD-IPMN can 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 24, 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
#17
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
#18
REVIEW
Michelle D Reid, Melinda M Lewis, Field F Willingham, N 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...
March 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
#19
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...
March 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
#20
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
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