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https://www.readbyqxmd.com/read/29320763/a-de-novo-50-bp-gnas-intragenic-duplication-in-a-patient-with-pseudohypoparathyroidism-type-1a
#1
Erina Suzuki, Ryosuke Bo, Kaori Sue, Hiroyuki Awano, Tsutomu Ogata, Satoshi Narumi, Masayo Kagami, Shinichiro Sano, Maki Fukami
Germline intragenic mutations in the GNAS locus result in pseudohypoparathyroidism type 1a (PHP1a) and related conditions. Nearly half of the previously reported GNAS intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified. Here, we report a de novo 50-bp tandem duplication in GNAS (c.723_772dup50, p.Glu259Leufs*29) identified in a patient with typical clinical features of PHP1a...
January 11, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29320714/a-case-report-of-mesenteric-heterotopic-ossification-histopathologic-and-genetic-findings
#2
REVIEW
Matthew Amalfitano, Billie Fyfe, Sumi V Thomas, Kevin P Egan, Meiqi Xu, Andrew G Smith, Frederick S Kaplan, Eileen M Shore, Robert J Pignolo
Mesenteric heterotopic ossification (MHO) is very rare and occurs in mid- to late-adulthood, usually in the context of prior abdominal surgery. The mechanisms of MHO are unknown. Here we describe the case of a 72-year-old man with MHO. Standard histological staining revealed that MHO occurred through an endochondral process. By comparison to known mutations in genetic conditions of HO such as fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH), DNA sequencing analysis demonstrated the presence of a commonly occurring heterozygous synonymous polymorphism (c...
January 7, 2018: Bone
https://www.readbyqxmd.com/read/29295516/impact-of-consuming-extra-virgin-olive-oil-or-nuts-within-a-mediterranean-diet-on-dna-methylation-in-peripheral-white-blood-cells-within-the-predimed-navarra-randomized-controlled-trial-a-role-for-dietary-lipids
#3
Ana Arpón, Fermín I Milagro, Cristina Razquin, Dolores Corella, Ramón Estruch, Montserrat Fitó, Amelia Marti, Miguel A Martínez-González, Emilio Ros, Jordi Salas-Salvadó, José-Ignacio Riezu-Boj, J Alfredo Martínez
DNA methylation could be reversible and mouldable by environmental factors, such as dietary exposures. The objective was to analyse whether an intervention with two Mediterranean diets, one rich in extra-virgin olive oil (MedDiet + EVOO) and the other one in nuts (MedDiet + nuts), was influencing the methylation status of peripheral white blood cells (PWBCs) genes. A subset of 36 representative individuals were selected within the PREvención con DIeta MEDiterránea (PREDIMED-Navarra) trial, with three intervention groups in high cardiovascular risk volunteers: MedDiet + EVOO, MedDiet + nuts, and a low-fat control group...
December 23, 2017: Nutrients
https://www.readbyqxmd.com/read/29282319/expression-of-an-active-g%C3%AE-s-mutant-in-skeletal-stem-cells-is-sufficient-and-necessary-for-fibrous-dysplasia-initiation-and-maintenance
#4
Xuefeng Zhao, Peng Deng, Ramiro Iglesias-Bartolome, Panomwat Amornphimoltham, Dana J Steffen, Yunyun Jin, Alfredo A Molinolo, Luis Fernandez de Castro, Diana Ovejero, Quan Yuan, Qianming Chen, Xianglong Han, Ding Bai, Susan S Taylor, Yingzi Yang, Michael T Collins, J Silvio Gutkind
Fibrous dysplasia (FD) is a disease caused by postzygotic activating mutations of GNAS (R201C and R201H) that encode the α-subunit of the Gs stimulatory protein. FD is characterized by the development of areas of abnormal fibroosseous tissue in the bones, resulting in skeletal deformities, fractures, and pain. Despite the well-defined genetic alterations underlying FD, whether GNAS activation is sufficient for FD initiation and the molecular and cellular consequences of GNAS mutations remains largely unresolved, and there are no currently available targeted therapeutic options for FD...
December 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29280743/current-nomenclature-of-pseudohypoparathyroidism-inactivating-parathyroid-hormone-parathyroid-hormone-related-protein-signaling-disorder
#5
Serap Turan
Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short stature and a stocky build. The classification of PHP is further divided into PHP-Ia, pseudo-PHP (pPHP), PHP-Ib, PHP-Ic and PHP-II according to the presence or absence of AHO, together with an in vivo response to exogenous PTH and the measurement of Gsα protein activity in peripheral erythrocyte membranes in vitro...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29233531/genomic-landscape-of-ovarian-clear-cell-carcinoma-via-whole-exome-sequencing
#6
Se Ik Kim, Ji Won Lee, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song, Jeong-Sun Seo
OBJECTIVE: To analyze whole exome sequencing (WES) data on ovarian clear cell carcinoma (OCCC) in Korean patients via the technique of next generation sequencing (NGS). Genomic profiles were compared between endometriosis-associated OCCC (EMS-OCCC) and Non-EMS-OCCC. METHODS: We used serum samples and cancer tissues, stored at the Seoul National University Hospital Human Biobank, that were initially collected from women diagnosed with OCCC between 2012 and 2016. In total, 15 patients were enrolled: 5 with pathologically confirmed EMS-OCCC and 10 with Non-EMS-OCCC...
December 9, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29225348/a-multi-dimensional-characterization-of-anxiety-in-monozygotic-twin-pairs-reveals-susceptibility-loci-in-humans
#7
Reid S Alisch, Carol Van Hulle, Pankaj Chopra, Anita Bhattacharyya, Su-Chun Zhang, Richard J Davidson, Ned H Kalin, H Hill Goldsmith
The etiology of individual differences in human anxiousness is complex and includes contributions from genetic, epigenetic (i.e., DNA methylation) and environmental factors. Past genomic approaches have been limited in their ability to detect human anxiety-related differences in these factors. To overcome these limitations, we employed both a multi-dimensional characterization method, to select monozygotic twin pairs discordant for anxiety, and whole genome DNA methylation sequencing. This approach revealed 230 anxiety-related differentially methylated loci that were annotated to 183 genes, including several known stress-related genes such as NAV1, IGF2, GNAS, and CRTC1...
December 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/29224258/progressive-osseous-heteroplasia-in-a-chinese-infant-and-a-novel-mutation-in-the-gnas-gene
#8
Shi-De Zhang, Zhuang-Li Xie, Ke-Qing Zhang, Karina Nht, Jing-Jun Zhao
Progressive osseous heteroplasia(POH,OMIM 166350) is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. Most cases of POH are caused by heterozygous inactivating mutations of GNAS gene. Herein, we report a new sporadic case of atypical POH and its underlying genetic basis. This article is protected by copyright. All rights reserved.
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29183785/ablation-of-gs%C3%AE-signaling-in-osteoclast-progenitor-cells-adversely-affects-skeletal-bone-maintenance
#9
REVIEW
Girish Ramaswamy, John Fong, Niambi Brewer, Hyunsoo Kim, Deyu Zhang, Yongwon Choi, Frederick S Kaplan, Eileen M Shore
Gsα, the alpha stimulatory subunit of heterotrimeric G proteins that activates downstream signaling through the adenylyl cyclase and cAMP/PKA pathway, plays an important role in bone development and remodeling. The role of Gsα in mesenchymal stem cell (MSC) differentiation to osteoblasts has been demonstrated in several mouse models of Gsα inactivation. Previously, using mice with heterozygous germline deletion of Gsα (Gnas+/p-), we identified a novel additional role for Gsα in bone remodeling, and showed the importance of Gnas in maintaining bone quality by regulating osteoclast differentiation and function...
November 25, 2017: Bone
https://www.readbyqxmd.com/read/29180604/classifying-colorectal-cancer-by-tumor-location-rather-than-sidedness-highlights-a-continuum-in-mutation-profiles-and-consensus-molecular-subtypes
#10
Jonathan M Loree, Allan Al Pereira, Michael Lam, Alexandra N Willauer, Kanwal Raghav, Arvind Dasari, Van K Morris, Shailesh M Advani, David G Menter, Cathy Eng, Kenna Shaw, Russell Broaddus, Mark J Routbort, Yusha Liu, Jeffrey Morris, Rajyalakshmi Luthra, Funda Meric-Bernstam, Michael J Overman, Dipen M Maru, Scott Kopetz
PURPOSE: Colorectal cancers (CRCs) are classified as right/left sided based on whether they occur before/after the splenic flexure, with established differences in molecular subtypes and outcomes.  However, it is unclear if this division is optimal and whether precise tumor location provides further information. EXPERIMENTAL DESIGN: In 1,876 patients with CRC we compared mutation prevalence and overall survival (OS) according to side and location. Consensus Molecular Subtype (CMS) was compared in a separate cohort of 608 patients...
November 27, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29179855/analysis-of-the-influence-of-the-t393c-polymorphism-of-the-gnas-gene-on-the-clinical-expression-of-primary-hyperparathyroidism
#11
María Piedra, Ana Berja, Laura Ramos, María Teresa García-Unzueta, Jesús Manuel Morán, David Ruiz, José Antonio Amado
BACKGROUND: The receptor of parathyroid hormone and parathyroid hormone-related-protein (PTH/PTHrp) is located in the cell membrane of target tissues - kidney and osteoblasts. It is a G protein-coupled-receptor whose Gsα subunit is encoded by the GNAS gene. Our aim was to study whether the single nucleotide polymorphism (SNP) T393C of the GNAS gene is associated with renal stones, bone mineral density (BMD), or bone remodelling markers in primary hyperparathyroidism (PHPT). METHODS: An analysis was made of clinical and biochemical parameters and densitometric values in three areas and their relationship with the T393C SNP of the GNAS gene in 261 patients with primary hyperparathyroidism and in 328 healthy controls...
December 2017: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#12
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function...
November 20, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29158412/induced-gnasr201h-expression-from-the-endogenous-gnas-locus-causes-fibrous-dysplasia-by-up-regulating-wnt-%C3%AE-catenin-signaling
#13
Sanjoy Kumar Khan, Prem Swaroop Yadav, Gene Elliott, Dorothy Zhang Hu, Ruoshi Xu, Yingzi Yang
Fibrous dysplasia (FD; Online Mendelian Inheritance in Man no. 174800) is a crippling skeletal disease caused by activating mutations of the GNAS gene, which encodes the stimulatory G protein Gαs FD can lead to severe adverse conditions such as bone deformity, fracture, and severe pain, leading to functional impairment and wheelchair confinement. So far there is no cure, as the underlying molecular and cellular mechanisms remain largely unknown and the lack of appropriate animal models has severely hampered FD research...
November 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29146882/physiological-srsf2-p95h-expression-causes-impaired-hematopoietic-stem-cell-functions-and-aberrant-rna-splicing-in-mice
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
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