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https://www.readbyqxmd.com/read/29146882/physiological-srsf2-p95h-expression-causes-impaired-hematopoietic-stem-cell-functions-and-aberrant-rna-splicing-in-mice
#1
Ayana Kon, Satoshi Yamazaki, Yasuhito Nannya, Keisuke Kataoka, Yasunori Ota, Masahiro Marshall Nakagawa, Kenichi Yoshida, Yusuke Shiozawa, Maiko Morita, Tetsuichi Yoshizato, Masashi Sanada, Manabu Nakayama, Haruhiko Koseki, Hiromitsu Nakauchi, Seishi Ogawa
Splicing factor (SF) mutations are characteristic of myelodysplastic syndromes (MDS) and related myeloid neoplasms and implicated in their pathogenesis, but their roles in the development of MDS have not fully been elucidated. Here, we investigated the consequence of mutant Srsf2 expression using newly generated Vav1-Cre-mediated conditional knock-in mice. Mice carrying a heterozygous Srsf2 P95H mutation showed significantly reduced numbers of hematopoietic stem and progenitor cells (HSPCs) and differentiation defects both in the steady-state condition and transplant settings...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29136292/clinical-and-genetic-characteristics-of-pseudohypoparathyroidism-in-the-chinese-population
#2
Xueying Chu, Yan Zhu, Ou Wang, Min Nie, Tingting Quan, Yu Xue, Wenbo Wang, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing
BACKGROUND: Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B, and familial 1B. OBJECTIVES: To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP patient population. METHODS: From 2000 to 2016, 120 patients were recruited and studied using Sanger sequencing, methylation-specific multiple ligation-dependent probe amplification (MS-MLPA), and combined bisulfiterestriction analysis (COBRA)...
November 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29125274/pseudohypoparathyroidism
#3
Luisella Cianferotti, Maria L Brandi
The term pseudohypoparathyroidism (PHP) refers to a spectrum of rare disorders of mineral metabolism, characterized by features due to end-organ resistance to PTH. The phenotypes of Albright hereditary osteodystrophy (AHO), originally described as associated to the disease, and progressive osseous heteroplasia, can be associated to the endocrine manifestations of hormonal resistance. Genetic or epigenetic alterations in the complex imprinted GNAS locus, encoding the alpha-subunit of the stimulatory G protein (GSα) and several other transcripts, give rise to the different forms oh PHP, which can be differentiated according to the phenotype, the response to PTH infusion and in vitro assays testing Gsα activity...
November 10, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29115102/intramuscular-myxoma-of-the-cervical-muscles-with-gnas-mutation
#4
Giulia Pilloni, Marco Ajello, Antonio Melcarne, Nicola Marengo, Francesco Zenga, Diego Garbossa, Alessandro Ducati, Fulvio Tartara
No abstract text is available yet for this article.
November 7, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/29104223/detection-of-rare-somatic-gnas-mutation-in-mccune-albright-syndrome-using-a-novel-peptide-nucleic-acid-probe-in-a-single-tube
#5
Fu-Sung Lo, Tai-Long Chen, Chiuan-Chian Chiou
McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In the present study, a novel peptide nucleic acid (PNA) probe with fluorescent labeling was designed to detect trace amounts of somatic mutant GNAS in a single tube reaction. The method was applied to screen GNAS mutations in six patients with MAS/FD...
November 1, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29098180/controlled-growth-and-shape-directed-self-assembly-of-gold-nanoarrows
#6
Qian Wang, Zongpeng Wang, Zhe Li, Junyan Xiao, Hangyong Shan, Zheyu Fang, Limin Qi
Self-assembly of colloidal nanocrystals into complex superstructures offers notable opportunities to create functional devices and artificial materials with unusual properties. Anisotropic nanoparticles with nonspherical shapes, such as rods, plates, polyhedra, and multipods, enable the formation of a diverse range of ordered superlattices. However, the structural complexity and tunability of nanocrystal superlattices are restricted by the limited geometries of the anisotropic nanoparticles available for supercrystal self-assembly...
October 2017: Science Advances
https://www.readbyqxmd.com/read/29078380/large-g-protein-%C3%AE-subunit-xl%C3%AE-s-limits-clathrin-mediated-endocytosis-and-regulates-tissue-iron-levels-in-vivo
#7
Qing He, Richard Bouley, Zun Liu, Marc N Wein, Yan Zhu, Jordan M Spatz, Chia-Yu Wang, Paola Divieti Pajevic, Antonius Plagge, Jodie L Babitt, Murat Bastepe
Alterations in the activity/levels of the extralarge G protein α-subunit (XLαs) are implicated in various human disorders, such as perinatal growth retardation. Encoded by GNAS, XLαs is partly identical to the α-subunit of the stimulatory G protein (Gsα), but the cellular actions of XLαs remain poorly defined. Following an initial proteomic screen, we identified sorting nexin-9 (SNX9) and dynamins, key components of clathrin-mediated endocytosis, as binding partners of XLαs. Overexpression of XLαs in HEK293 cells inhibited internalization of transferrin, a process that depends on clathrin-mediated endocytosis, while its ablation by CRISPR/Cas9 in an osteocyte-like cell line (Ocy454) enhanced it...
October 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29069792/acquired-somatic-tp53-or-pik3ca-mutations-are-potential-predictors-of-when-polyps-evolve-into-colorectal-cancer
#8
Pi-Yueh Chang, Jinn-Shiun Chen, Shih-Cheng Chang, Mei-Chia Wang, Nai-Chung Chang, Ying-Hao Wen, Wen-Sy Tsai, Wei-Hsiu Liu, Hsiu-Ling Liu, Jang-Jih Lu
Colorectal cancer (CRC) develops from accumulated mutations. However, which gene determines the malignant transformation from adenoma to carcinoma is still uncertain. Fifty-three formalin fixed paraffin-embedded polyps that had pathological findings from patients with hyperplasia, adenomatous, and tubular adenoma < 1 cm (non-neoplasia polyps, NNP, n = 27) or tubular adenoma ≥ 1 cm, tubulovillous and villous adenoma (neoplastic polyps, NP, n = 26) were recruited. Six paired synchronous polyps and cancer tissues and 50 independent fresh CRC tumors were also collected...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29059381/ossifications-in-albright-hereditary-osteodystrophy-role-of-genotype-inheritance-sex-age-hormonal-status-and-bmi
#9
Parissa Salemi, Julie M Skalamera Olson, Lauren E Dickson, Emily L Germain-Lee
Context: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Depending on the parental origin of the mutated allele, patients develop either pseudohypoparathyroidism type 1A (PHP1A), with multi-hormone resistance and severe obesity, or pseudopseudohypoparathyroidism (PPHP), without hormonal abnormalities or marked obesity. Subcutaneous ossifications (SCO) are a source of significant morbidity in both PHP1A and PPHP. Objective: This study investigated the previously undetermined prevalence of SCO formation in PHP1A versus PPHP as well as possible correlations with genotype, sex, age, hormonal resistance, and BMI...
October 19, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29056280/intratumoral-activating-gnas-r201c-mutation-in-two-unrelated-patients-with-virilizing-ovarian-leydig-cell-tumors
#10
Bert M Bieler, Susan Marie Gerber, Guiomar Pérez de Nanclares, David Hardisson, Beatriz Lecumberri
No abstract text is available yet for this article.
June 2017: Endocrinología, diabetes y nutrición
https://www.readbyqxmd.com/read/29042943/suxiao-jiuxin-pill-protects-cardiomyocytes-against-mitochondrial-injury-and-alters-gene-expression-during-ischemic-injury
#11
Xiaofen Ruan, Tiejun Chen, Xiaolong Wang, Yiping Li
Suxiao Jiuxin Pill (SX), a traditional Chinese medicine compound consisting primarily of tetramethylpyrazine and borneol, has been reported to protect against ischemic heart disease. However, the effects of SX on mitochondrial injury and gene expression in various signaling pathways are unclear. The aim of the present study was to investigate the effects of SX on mitochondrial injury and to screen the expression of genes potentially altered by SX using a cell culture model of ischemic injury. Simulated ischemia was established by culturing HL-1 cardiomyocytes in Dulbecco's modified Eagle medium without glucose or serum in a hypoxic chamber containing 95% N2 and 5% CO2 for 24 h...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29025585/genetic-gastric-cancer-susceptibility-in-the-international-clinical-cancer-genomics-community-research-network
#12
Thomas Slavin, Susan L Neuhausen, Christina Rybak, Ilana Solomon, Bita Nehoray, Kathleen Blazer, Mariana Niell-Swiller, Aaron W Adamson, Yate-Ching Yuan, Kai Yang, Sharon Sand, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Tanya Chavez, Yanghee Woo, Joseph Chao, Pamela Mora, Darling Horcasitas, Jeffrey Weitzel
Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n = 51), were retrospectively selected. For those without previously identified germline mutations (n = 43), sequencing was performed for 706 candidate genes. Twenty pathogenic or likely pathogenic variants were identified among 18 participants...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28970292/preoperative-next-generation-sequencing-of-pancreatic-cyst-fluid-is-highly-accurate-in-cyst-classification-and-detection-of-advanced-neoplasia
#13
Aatur D Singhi, Kevin McGrath, Randall E Brand, Asif Khalid, Herbert J Zeh, Jennifer S Chennat, Kenneth E Fasanella, Georgios I Papachristou, Adam Slivka, David L Bartlett, Anil K Dasyam, Melissa Hogg, Kenneth K Lee, James Wallis Marsh, Sara E Monaco, N Paul Ohori, James F Pingpank, Allan Tsung, Amer H Zureikat, Abigail I Wald, Marina N Nikiforova
OBJECTIVE: DNA-based testing of pancreatic cyst fluid (PCF) is a useful adjunct to the evaluation of pancreatic cysts (PCs). Mutations in KRAS/GNAS are highly specific for intraductal papillary mucinous neoplasms (IPMNs) and mucinous cystic neoplasms (MCNs), while TP53/PIK3CA/PTEN alterations are associated with advanced neoplasia. A prospective study was performed to evaluate preoperative PCF DNA testing. DESIGN: Over 43-months, 626 PCF specimens from 595 patients were obtained by endoscopic ultrasound (EUS)-fine needle aspiration and assessed by targeted next-generation sequencing (NGS)...
September 28, 2017: Gut
https://www.readbyqxmd.com/read/28939416/the-gnas-r201c-mutation-associated-with-clonal-hematopoiesis-supports-transplantable-hematopoietic-stem-cell-activity
#14
Elizabeth L Ostrander, Won Kyun Koh, Cates Mallaney, Ashley C Kramer, W Casey Wilson, Bo Zhang, Grant A Challen
Genome sequencing efforts have identified virtually all of the important mutations in adult myeloid malignancies. More recently, population studies have identified cancer-associated variants in the blood of otherwise healthy individuals as they age, a phenomenon termed clonal hematopoiesis of indeterminate potential (CHIP). This suggests that these mutations may occur in hematopoietic stem cells (HSCs) long before any clinical presentation but are not necessarily harbingers of transformation because only a fraction of individuals with CHIP develop hematopoietic pathologies...
September 20, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28930868/next-generation-sequencing-revealed-tp53-mutations-to-be-malignant-marker-for-intraductal-papillary-mucinous-neoplasms-that-could-be-detected-using-pancreatic-juice
#15
Shinichi Takano, Mitsuharu Fukasawa, Makoto Kadokura, Hiroko Shindo, Ei Takahashi, Sumio Hirose, Shinya Maekawa, Kunio Mochizuki, Hiromichi Kawaida, Jun Itakura, Ryohei Katoh, Hideki Fujii, Tadashi Sato, Nobuyuki Enomoto
OBJECTIVES: The aims of this study were to identify the genetic mutations associated with malignant intraductal papillary mucinous neoplasms (IPMNs) and evaluate the possibility of detecting mutations in pure pancreatic juice by next-generation sequencing. METHODS: Resected tissues were collected from 50 patients with IPMN, and pure pancreatic juice samples were collected from 19 patients who had a resection. The extracted DNA was amplified by multiplex polymerase chain reaction targeting 52 cancer-related genes, including KRAS, GNAS, RNF43, and TP53; the mutations were then detected by next-generation sequencing and then analyzed for correlations with the clinicopathological characteristics...
November 2017: Pancreas
https://www.readbyqxmd.com/read/28902630/pseudohypoparathyroidism-type-1b-associated-with-assisted-reproductive-technology
#16
Monica Fernandez, Maria Jose Zambrano, Joel Riquelme, Claudia Castiglioni, Marie-Laure Kottler, Harald Jüppner, Veronica Mericq
Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsα. We present a patient conceived by ART, who presented at age 4 years with delayed neurocognitive development and persistently increased creatine kinase (CK). At 6 years an elevated PTH was detected with normal calcium and a low 25(OH) vitamin D level (25OHD)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28894201/cortisol-overproduction-results-from-dna-methylation-of-cyp11b1-in-hypercortisolemia
#17
Mitsuhiro Kometani, Takashi Yoneda, Masashi Demura, Hiroshi Koide, Koshiro Nishimoto, Kuniaki Mukai, Celso E Gomez-Sanchez, Tadayuki Akagi, Takashi Yokota, Shin-Ichi Horike, Shigehiro Karashima, Isamu Miyamori, Masakazu Yamagishi, Yoshiyu Takeda
Adrenocortical hormone excess, due to primary aldosteronism (PA) or hypercortisolemia, causes hypertension and cardiovascular complications. In PA, hypomethylation of aldosterone synthase (CYP11B2) is associated with aldosterone overproduction. However, in hypercortisolemia, the role of DNA methylation of 11β-hydroxylase (CYP11B1), which catalyzes cortisol biosynthesis and is highly homologous to CYP11B2, is unclear. The aims of our study were to determine whether the CYP11B1 expression was regulated through DNA methylation in hypercortisolemia with cortisol-producing adenoma (CPA), and to investigate a possible relationship between DNA methylation and somatic mutations identified in CPA...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28889026/gnas-mutations-and-heterotopic-ossification
#18
Murat Bastepe
GNAS is a complex imprinted gene encoding the alpha-subunit of the stimulatory heterotrimeric G protein (Gsα). GNAS gives rise to additional gene products that exhibit exclusively maternal or paternal expression, such as XLαs, a large variant of Gsα that shows exclusively paternal expression and is partly identical to the latter. Gsα itself is expressed biallelically in most tissues, although the expression occurs predominantly from the maternal allele in a small set of tissues, such as renal proximal tubules...
September 6, 2017: Bone
https://www.readbyqxmd.com/read/28868010/clinical-benefit-from-trametinib-in-a-patient-with-appendiceal-adenocarcinoma-with-a-gnas-r201h-mutation
#19
Celina Ang, Aryeh Stollman, Hongfa Zhu, Umut Sarpel, Bethann Scarborough, Gagan Sahni, Sherri Z Millis
We report the case of a patient with appendiceal adenocarcinoma with mucinous peritoneal carcinomatosis who was treated with trametinib upon identification of a GNAS R201H mutation by comprehensive genomic profiling. The molecular pathology of appendiceal neoplasms is reviewed, and the mechanistic basis underlying the clinical benefit as well as the subsequent course on trametinib that were observed in this patient are discussed.
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28856726/increased-risk-of-breast-cancer-at-a-young-age-in-women-with-fibrous-dysplasia
#20
Bas C J Majoor, Alison M Boyce, Judith V M G Bovée, Vincent T H B M Smit, Michael T Collins, Anne-Marie Cleton-Jansen, Olaf M Dekkers, Neveen A T Hamdy, Sander P D Dijkstra, Natasha M Appelman-Dijkstra
Background Fibrous dysplasia is a rare bone disorder caused by mutations of the GNAS-gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia cohorts from the Netherlands and the USA Patients and Methods Data on fibrous dysplasia and breast cancer diagnosis were retrieved from hospital-records of 134 (Netherlands) and 121 (USA) female patients. Results were validated with breast cancer data of 645 female fibrous dysplasia patients from the Dutch Pathology Registry (PALGA)...
August 30, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
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