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https://www.readbyqxmd.com/read/28588314/frequency-of-gnas-r201h-substitution-mutation-in-polyostotic-fibrous-dysplasia-pyrosequencing-analysis-in-tissue-samples-with-or-without-decalcification
#1
Su-Jin Shin, Seok Joo Lee, Sang Kyum Kim
Guanine nucleotide-binding protein/α-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. Here, we analyzed GNAS mutations in FD which were performed by pyrosequencing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. The mutation detection rate was determined in FD specimens with and without decalcification. GNAS mutation was identified in 28 cases out of 87 FDs (32.18%) [p.R201C (N = 14) and p.R201H (N = 14)]. GNAS mutation was more likely to occur in polyostotic FD (7/28, 25...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28573215/molecular-histologic-and-radiologic-findings-of-high-grade-invasive-adenocarcinoma-arising-in-oncocytic-subtype-of-intraductal-papillary-mucinous-neoplasm-a-case-report-and-review-of-literature
#2
Jared Shows, Christan Bartsch, Heather Carmichael, Irfan Qureshi, Barish Edil, Hubert Fenton
Background: We present a case of adenocarcinoma arising in the oncocytic subtype of intraductal papillary mucinous neoplasm (O-IPMN), with emphasis on the molecular findings in the adenocarcinoma component. Tissue microdissection and next-generation sequencing were performed using a 26 gene panel (AKT1, ALK, APC, BRAF, CDH1, CTNNB1, EGFR, ERBB2, FBXW7, FGFR2, FOXL2, GNAQ, GNAS, KIT, KRAS, MAP2K1, MET, MSH6, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SRC, STK11, TP53) of cancer-related genes. Case Presentation: A 69-year-old Caucasian female presented with chest pain and was found to have findings consistent with acute pancreatitis...
2017: J Pancreat Cancer
https://www.readbyqxmd.com/read/28570009/mucinous-cystic-neoplasms-of-the-liver-and-pancreas-relationship-between-kras-driver-mutations-and-disease-progression
#3
Kohei Fujikura, Masayuki Akita, Shiho Abe-Suzuki, Tomoo Itoh, Yoh Zen
AIMS: To compare the oncogenic mutation status among mucinous cystic neoplasms (MCNs) of different histological grades and between liver and pancreatic MCNs. METHODS AND RESULTS: KRAS, GNAS, RNF43 and PIK3CA were sequenced in 25 surgical cases of hepatopancreatic MCNs. Molecular features were correlated with clinicopathological and immunohistochemical findings. KRAS mutations were identified in 5 cases (20%), while GNAS, RNF43 and PIK3CA were the wild-type in all cases...
June 1, 2017: Histopathology
https://www.readbyqxmd.com/read/28540626/cross-sectional-prevalence-of-pancreatic-cystic-lesions-in-patients-with-acromegaly-a-single-center-experience
#4
Yukiko Odake, Hidenori Fukuoka, Masaaki Yamamoto, Yoshifumi Arisaka, Junya Konishi, Kenichi Yoshida, Ryusaku Matsumoto, Hironori Bando, Kentaro Suda, Hitoshi Nishizawa, Genzo Iguchi, Shozo Yamada, Wataru Ogawa, Yutaka Takahashi
PURPOSE: Acromegaly is a disease associated with an increased risk for several kinds of neoplasms including colon and thyroid cancer. Although the association between acromegaly and pancreatic neoplasms has not been elucidated, it has recently been reported that GNAS gene mutations were found in 58% of intraductal papillary mucinous neoplasms (IPMNs), which are representative pancreatic cystic lesions, suggesting a link between IPMNs and acromegaly. To assess the prevalence of pancreatic cystic lesions in patients with acromegaly, we performed a retrospective cross-sectional single institute study...
May 24, 2017: Pituitary
https://www.readbyqxmd.com/read/28536037/identification-of-molecular-targets-in-vulvar-cancers
#5
Marguerite L Palisoul, Mary M Mullen, Rebecca Feldman, Premal H Thaker
OBJECTIVES: To identify molecular alterations that contribute to vulvar cancer pathogenesis with the intent of identifying molecular targets for treatment. METHODS: After retrospective analysis of a database of molecularly-profiled gynecologic cancer patients, 149 vulvar cancer patients were included and tested centrally at a CLIA laboratory (Caris Life Sciences, Phoenix, AZ). Tests included one or more of the following: gene sequencing (Sanger or next generation sequencing [NGS]), protein expression (immunohistochemistry [IHC]), and gene amplification (C/FISH)...
May 20, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28526814/kras-and-gnas-co-mutation-in-metastatic-low-grade-appendiceal-mucinous-neoplasm-lamn-to-the-ovaries-a-practical-role-for-next-generation-sequencing
#6
Daniel R Matson, Jin Xu, Laura Huffman, Lisa Barroilhet, Molly Accola, William M Rehrauer, Paul Weisman
BACKGROUND Low-grade appendiceal mucinous neoplasms (LAMNs) are cytologically low-grade tumors of the appendix and are a frequent cause of pseudomyxoma peritonei. They can become a diagnostic challenge when they metastasize to the ovaries, where they may mimic primary ovarian mucinous tumors. CASE REPORT We report the case of a patient with very large bilateral ovarian mucinous tumors and a concurrent minute LAMN incidentally discovered in a grossly normal appendix. A primary ovarian tumor was suspected, but histological analysis of the ovaries suggested an appendiceal origin...
May 20, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28500587/insights-into-the-pathogenesis-of-pancreatic-cystic-neoplasms
#7
REVIEW
Vrishketan Sethi, Bhuwan Giri, Ashok Saluja, Vikas Dudeja
With the current epidemic of diagnosed pancreatic cystic neoplasms on the rise, a substantial amount of work has been done to unravel their biology, thus leading to implications on clinical decision making. Recent genetic profiling of resected human specimens has identified alterations in signaling pathways involving KRAS and GNAS signaling as early events in the pathogenesis of intraductal pancreatic mucinous neoplasms. Progressively, mutations in genes such as TP53, SMAD4, RNF43, and others are thought to characterize invasive and advanced lesions...
May 12, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28488625/genetics-of-pituitary-adenomas
#8
Mario Shaid, Márta Korbonits
Clinically relevant pituitary tumors presenting with altered hormonal secretion or mass effect represent a significant proportion of patients in endocrinology clinics. However, in recent years, these patients are also referred to clinical genetic services due to possible germline mutations causing syndromic or isolated pituitary adenomas. While somatic mutations have been identified in GNAS, USB8, PIK3CA, GPR101 and rarely in RAS, germline mutations have been identified in MEN1, cyclin dependent kinase inhibitor genes, AIP, DICER1, PRKAR1A, PRKACA, SDH genes and GPR101...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28486603/clinical-identification-of-oncogenic-drivers-and-copy-number-alterations-in-pituitary-tumors
#9
Wenya Linda Bi, Noah F Greenwald, Shakti H Ramkissoon, Malak Abedalthagafi, Shannon M Coy, Keith L Ligon, Yu Mei, Laura MacConaill, Matt Ducar, Le Min, Sandro Santagata, Ursula B Kaiser, Rameen Beroukhim, Edward R Laws, Ian F Dunn
Pituitary tumors are the second most common adult primary brain tumor, with a variable clinical course. Recent work has identified a number of genetic determinants of pituitary tumor subtypes, which may augment classic histopathologic classification schemes. We sought to determine whether pituitary tumors could be stratified based on objective molecular characteristics using a clinical genomics assay. We profiled pituitary tumors using OncoPanel, a clinical multiplexed next-generation sequencing assay and retrospectively collected the clinical information and sequencing results for 127 patients from 2012-2016 at the Brigham and Women's Hospital...
May 8, 2017: Endocrinology
https://www.readbyqxmd.com/read/28483487/mechanical-stress-affects-methylation-pattern-of-gnas-isoforms-and-osteogenic-differentiation-of-hat-mscs
#10
Angeliki-Maria Vlaikou, Dimitrios Kouroupis, Argyro Sgourou, Georgios S Markopoulos, Eleni Bagli, Maria Markou, Zoe Papadopoulou, Theodore Fotsis, Georgios Nakos, Maria-Eleni E Lekka, Maria Syrrou
Mechanical stress exerts a substantial role on skeletal-cell renewal systems, whereas accumulating evidence suggests that epigenetic mechanisms induce changes and differential gene expression. Although the underlying mechanisms remain to be fully elucidated, our study suggests that the influence of the long term mechanical stimulation elicits epigenetic modifications controlling osteogenic differentiation of human adipose tissue multipotential stromal cells (hAT-MSCs) and contributes to an accelerating in vitro osteogenesis...
May 5, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28479381/integrated-clinicopathological-features-and-gene-microarray-analysis-of-pancreatic-neuroendocrine-tumors
#11
Huaqiang Zhou, Qinchang Chen, Wulin Tan, Zeting Qiu, Si Li, Yiyan Song, Shaowei Gao
Pancreatic neuroendocrine tumors are relatively rare pancreatic neoplasms over the world. Investigations about molecular biology of PNETs are insufficient for nowadays. We aimed to explore the expression of messenger RNA and regulatory processes underlying pancreatic neuroendocrine tumors from different views. The expression profile of GSE73338 were downloaded, including samples with pancreatic neuroendocrine tumors. First, the Limma package was utilized to distinguish the differentially expressed messenger RNA...
August 20, 2017: Gene
https://www.readbyqxmd.com/read/28476226/genetic-aspects-of-pituitary-adenomas
#12
REVIEW
Pedro Marques, Márta Korbonits
Although most of pituitary adenomas are benign, they may cause significant burden to patients. Sporadic adenomas represent the vast majority of the cases, where recognized somatic mutations (eg, GNAS or USP8), as well as altered gene-expression profile often affecting cell cycle proteins have been identified. More rarely, germline mutations predisposing to pituitary adenomas -as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the pituitary (AIP or GPR101) can be identified. These alterations influence the biological behavior, clinical presentations and therapeutic responses, and their full understanding helps to provide appropriate care for these patients...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28473845/pancreatic-islet-protein-complexes-and-their-dysregulation-in-type-2-diabetes
#13
Helle Krogh Pedersen, Valborg Gudmundsdottir, Søren Brunak
Type 2 diabetes (T2D) is a complex disease that involves multiple genes. Numerous risk loci have already been associated with T2D, although many susceptibility genes remain to be identified given heritability estimates. Systems biology approaches hold potential for discovering novel T2D genes by considering their biological context, such as tissue-specific protein interaction partners. Pancreatic islets are a key T2D tissue and many of the known genetic risk variants lead to impaired islet function, hence a better understanding of the islet-specific dysregulation in the disease-state is essential to unveil the full potential of person-specific profiles...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28453643/early-onset-obesity-unrecognized-first-evidence-for-gnas-mutations-and-methylation-changes
#14
Annette Grüters-Kieslich, Monica Reyes, Amita Sharma, Cem Demirci, Terry J DeClue, Erwin Lankes, Dov Tiosano, Dirk Schnabel, Harald Jüppner
Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type Ia (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type Ib (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities they are considered distinct clinical entities...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28443644/a-reciprocal-regulatory-loop-between-taz-yap-and-g-protein-g%C3%AE-s-regulates-schwann-cell-proliferation-and-myelination
#15
Yaqi Deng, Lai Man Natalie Wu, Shujun Bai, Chuntao Zhao, Haibo Wang, Jincheng Wang, Lingli Xu, Masahide Sakabe, Wenhao Zhou, Mei Xin, Q Richard Lu
Schwann cell (SC) myelination in the peripheral nervous system is essential for motor function, and uncontrolled SC proliferation occurs in cancer. Here, we show that a dual role for Hippo effectors TAZ and YAP in SC proliferation and myelination through modulating G-protein expression and interacting with SOX10, respectively. Developmentally regulated mutagenesis indicates that TAZ/YAP are critical for SC proliferation and differentiation in a stage-dependent manner. Genome-wide occupancy mapping and transcriptome profiling reveal that nuclear TAZ/YAP promote SC proliferation by activating cell cycle regulators, while targeting critical differentiation regulators in cooperation with SOX10 for myelination...
April 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28426742/multiple-components-of-pka-and-tgf-%C3%AE-pathways-are-mutated-in-pseudomyxoma-peritonei
#16
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
#17
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
#18
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
#19
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
#20
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
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