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https://www.readbyqxmd.com/read/28426742/multiple-components-of-pka-and-tgf-%C3%AE-pathways-are-mutated-in-pseudomyxoma-peritonei
#1
Lilli Saarinen, Pirjo Nummela, Alexandra Thiel, Rainer Lehtonen, Petrus Järvinen, Heikki Järvinen, Lauri A Aaltonen, Anna Lepistö, Sampsa Hautaniemi, Ari Ristimäki
Pseudomyxoma peritonei (PMP) is a subtype of mucinous adenocarcinoma mainly restricted to the peritoneal cavity and most commonly originating from the appendix. The genetic background of PMP is poorly understood and no targeted treatments are currently available for this fatal disease. While RAS signaling pathway is affected in most if not all PMP cases and over half of them also have a mutation in the GNAS gene, other genetic alterations and affected pathways are, to a large degree, poorly known. In this study, we sequenced whole coding genome of nine PMP tumors and paired normal tissues in order to identify additional, commonly mutated genes and signaling pathways affected in PMP...
2017: PloS One
https://www.readbyqxmd.com/read/28423545/hobnail-variant-of-papillary-thyroid-carcinoma-molecular-profiling-and-comparison-to-classical-papillary-thyroid-carcinoma-poorly-differentiated-thyroid-carcinoma-and-anaplastic-thyroid-carcinoma
#2
Lianghong Teng, Wanglong Deng, Junliang Lu, Jing Zhang, Xinyu Ren, Huanli Duan, Shannon Chuai, Feidie Duan, Wei Gao, Tao Lu, Huanwen Wu, Zhiyong Liang
BACKGROUND: As a rare but aggressive papillary thyroid carcinoma (PTC) variant, the genetic changes of hobnail variant of PTC (HVPTC) are still unclear. RESULTS: The prevalence of HVPTC was 1.69% (18/1062) of all PTC diagnosed in our cohort. 73 samples from 55 patients (17 HVPTC, 26 CPTC, 7 PDTC and 5 ATC) were successfully analyzed using targeted NGS with an 18-gene panel. Thirty-seven mutation variant types were identified among 11 genes. BRAF V600E mutation was the most common mutation, which is present in almost all HVPTC samples (16/17, 94%), most CPTC samples (20/26, 77%), and none of the ATC and PDTC samples...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28410400/inherited-variants-in-genes-somatically-mutated-in-thyroid-cancer
#3
Chiara Campo, Aleksandra Köhler, Gisella Figlioli, Rossella Elisei, Cristina Romei, Monica Cipollini, Franco Bambi, Kari Hemminki, Federica Gemignani, Stefano Landi, Asta Försti
BACKGROUND: Tumour suppressor genes when mutated in the germline cause various cancers, but they can also be somatically mutated in sporadic tumours. We hypothesized that there may also be cancer-related germline variants in the genes commonly mutated in sporadic well-differentiated thyroid cancer (WDTC). METHODS: We performed a two-stage case-control association study with a total of 2214 cases and 2108 healthy controls from an Italian population. By genotyping 34 single nucleotide polymorphisms (SNPs), we covered a total of 59 missense SNPs and SNPs located in the 5' and 3' untranslated regions (UTRs) of 10 different genes...
2017: PloS One
https://www.readbyqxmd.com/read/28398963/molecular-evidence-for-monoclonal-skip-progression-in-main-duct-intraductal-papillary-mucinous-neoplasms-of-the-pancreas
#4
Kenjiro Date, Takao Ohtsuka, Takaaki Fujimoto, Koji Tamura, Hideyo Kimura, Taketo Matsunaga, Naoki Mochidome, Tetsuyuki Miyazaki, Yasuhisa Mori, Yoshinao Oda, Masafumi Nakamura, Masao Tanaka
OBJECTIVE: To clarify clonality of distinct multisegmental main duct (MD)-intraductal papillary mucinous neoplasms (IPMNs) using microarray analysis. BACKGROUND: IPMNs represent a pancreatic ductal cell field defect, which causes multiple occurrences of lesions. In addtion, it has been speculated that MD-IPMNs display features of monoclonal skip progression. METHODS: Total RNA was extracted from fresh-frozen tissue samples of metachronous MD-IPMNs and nonneoplastic pancreas tissue from the same pancreas from two individuals, and whole human genome microarray analysis was performed...
May 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28395381/parathyroid-hormone-resistance-and-bilateral-macronodular-adrenocortical-disease-does-partial-loss-of-methylation-at-the-gnas-exon-1-differentially-methylated-region-dmr-play-a-role
#5
Christian A Koch
No abstract text is available yet for this article.
April 10, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28363951/heterotrimeric-g-proteins-in-the-control-of-parathyroid-hormone-actions
#6
REVIEW
Murat Bastepe, Serap Turan, Qing He
Parathyroid hormone (PTH) is a key regulator of skeletal physiology and calcium and phosphate homeostasis. It acts on bone and kidney to stimulate bone turnover, increase the circulating levels of 1,25 dihydroxyvitamin D and calcium and inhibit the reabsorption of phosphate from the glomerular filtrate. Dysregulated PTH actions contribute to or are the cause of several endocrine disorders. This calciotropic hormone exerts its actions via binding to the PTH/PTH-related peptide receptor (PTH1R), which couples to multiple heterotrimeric G proteins, including Gs and Gq/11 Genetic mutations affecting the activity or expression of the alpha-subunit of Gs, encoded by the GNAS complex locus, are responsible for several human diseases for which the clinical findings result, at least partly, from aberrant PTH signaling...
May 2017: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/28358762/craniosynostosis-and-guanine-nucleotide-binding-protein-alpha-stimulating-mutation-risk-of-bleeding-diathesis-and-circulatory-collapse-in-patients-undergoing-cranial-vault-reconstruction
#7
Oluwaseun A Adetayo, Jeffrey A Fearon
Reconstruction of the craniosynostosis deformity is a relatively safe operation with low overall complication risks. Despite expected risk of significant blood loss, life-threatening bleeding is relatively rare, and there is a low incidence of reported deaths in the literature. Several modalities have been described for perioperative mitigation of blood loss and transfusion requirements. Due to the low overall risk of life-threatening bleeding and circulatory collapse, it is judicious that any potential causes of such unusual but potentially significant fatal bleeding complication be evaluated and reported to increase awareness for craniofacial surgeons treating these conditions...
March 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28338087/gs%C3%AE-controls-cortical-bone-quality-by-regulating-osteoclast-differentiation-via-camp-pka-and-%C3%AE-catenin-pathways
#8
Girish Ramaswamy, Hyunsoo Kim, Deyu Zhang, Vitali Lounev, Joy Y Wu, Yongwon Choi, Frederick S Kaplan, Robert J Pignolo, Eileen M Shore
Skeletal bone formation and maintenance requires coordinate functions of several cell types, including bone forming osteoblasts and bone resorbing osteoclasts. Gsα, the stimulatory subunit of heterotrimeric G proteins, activates downstream signaling through cAMP and plays important roles in skeletal development by regulating osteoblast differentiation. Here, we demonstrate that Gsα signaling also regulates osteoclast differentiation during bone modeling and remodeling. Gnas, the gene encoding Gsα, is imprinted...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28337739/intraductal-neoplasms-of-the-bile-duct-a-new-challenge-to-biliary-tract-tumor-pathology
#9
REVIEW
Yasuni Nakanuma, Katsuhiko Uesaka, Shiro Miyayama, Hiroshi Yamaguchi, Masayuki Ohtsuka
Invasive biliary tract carcinomas are usually tubular adenocaricnomas with abundant desmoplastic reactions and frequent ductal and periductal invasion at the time of the diagnosis. Recently, several intraductal neoplasms of the bile duct, particularly at a pre-invasive stage, have been recognized. They include intraductal papillary neoplasm of the bile duct (IPNB), biliary intraepithelial neoplasm (BilIN), and others, such as intraductal tubulopapillary neoplasm (ITPN) of the bile duct. IPNBs are grossly visible predominantly intraductal-growing papillary neoplasms covered by well-differentiated neoplastic epithelium with fine fibrovascular cores in the dilated bile ducts...
March 24, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28335073/clinical-characteristics-and-whole-exome-transcriptome-sequencing-of-coexisting-chronic-myeloid-leukemia-and-myelofibrosis
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
Marco Gambarotti, Alberto Righi, Daniel Vanel, Stefania Cocchi, Stefania Benini, Francesca M Elli, Giovanna Mantovani, Pietro Ruggieri, Stefano Boriani, Davide M Donati, Marta Sbaraglia, Angelo P Dei Tos, Piero Picci
AIMS: Fibrocartilaginous mesenchymoma is a rare intraosseous lesion, with a total of 26 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, de-differentiated 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
#17
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
#18
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
#19
Waki Hosoda, Peter Chianchiano, James F Griffin, Meredith E Pittman, Lodewijk Aa 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
#20
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)...
April 2017: Virchows Archiv: An International Journal of Pathology
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