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https://www.readbyqxmd.com/read/28074614/mutation-analysis-and-gene-expression-profiling-of-ocular-melanomas-in-cats
#1
J G Rushton, R Ertl, D Klein, B Nell
Feline ocular melanomas show a high malignant behaviour, but adjunctive therapies are non-existent. The aim of this pilot study was to determine, whether feline ocular melanomas harbour mutations comparable to mutations in human melanomas and to evaluate the gene expression status of genes known to be involved in initiation and progression of human melanomas. Mutation hotspot regions of several genes of feline ocular melanomas were analysed by DNA sequencing and RNA expression levels of the respective genes and others were evaluated by quantitative real-time polymerase chain reaction (RT-qPCR)...
January 11, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28018010/uveal-melanoma-cell-lines-where-do-they-come-from-an-american-ophthalmological-society-thesis
#2
Martine J Jager, J Antonio Bermudez Magner, Bruce R Ksander, Sander R Dubovy
PURPOSE: To determine whether some of the most often used uveal melanoma cell lines resemble their original tumor. METHODS: Analysis of the literature, patient charts, histopathology, mutations, chromosome status, HLA type, and expression of melanocyte markers on cell lines and their primary tumors. We examined five cell lines and the primary tumors from which they were derived. RESULTS: Four of the five examined primary tumors were unusual: one occupied the orbit, two were recurrences after prior irradiation, and one developed in an eye with a nevus of Ota...
August 2016: Transactions of the American Ophthalmological Society
https://www.readbyqxmd.com/read/28012237/sporadic-melanotic-schwannoma-with-overlapping-features-of-melanocytoma-bearing-a-gna11-mutation-in-an-adolescent-girl
#3
Christina Tatsi, Flora Bacopoulou, Charalampos Lyssikatos, Elena Belyavskaya, Fabio R Faucz, Constantine A Stratakis
Melanotic schwannoma (MS) is a soft tissue neoplasm that shares histologic features with melanocytic tumors and schwannomas. A type of MS, called psammomatous MS (PMS), is associated with Carney complex (CNC), which is caused by PRKAR1A mutations. Other pigmented neoplasms, such as uveal melanomas and melanocytomas (MCs), are associated with genetic defects in other genes including GNA11. We report an adolescent female with a large sporadic mesenteric MS with complex histologic findings reminiscent of both PMS and MC...
December 24, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27990554/gna11-mutated-and-bap1-negative-melanomas-ex-blue-naevi-a-particularly-aggressive-entity
#4
Arnaud Uguen, Briac Guibourg, Sebastian Costa, Pascale Marcorelles
is missing (Short Communication).
December 8, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27974237/copy-number-variation-analysis-and-methylome-profiling-of-a-gnaq-mutant-primary-meningeal-melanocytic-tumor-and-its-liver-metastasis
#5
Heidi V N Küsters-Vandevelde, Vibeke Kruse, Tom Van Maerken, Tom Boterberg, Rolph Pfundt, David Creytens, Caroline Van den Broecke, Trudi C Machielsen, Christian Koelsche, Andreas von Deimling, Benno Küsters, Patricia J T A Groenen, Pieter Wesseling, Willeke A M Blokx
Primary meningeal melanocytic tumors have genetic similarities with uveal melanomas, including GNAQ or GNA11 mutations. While BAP1 mutations and loss of chromosome 3 have adverse prognostic meaning in uveal melanoma, genetic alterations associated with metastasis have not been investigated in primary meningeal melanocytic tumors. We describe a 43-year-old female with a GNAQ-mutated, BAP1-wt melanocytic tumor originating in the parietal brain region and liver metastases 4years after initial diagnosis. After repeated surgery and chemotherapy she was treated with the immunomodulatory agent ipilimumab...
December 11, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27941843/whole-genome-sequencing-of-eight-goat-populations-for-the-detection-of-selection-signatures-underlying-production-and-adaptive-traits
#6
Xiaolong Wang, Jing Liu, Guangxian Zhou, Jiazhong Guo, Hailong Yan, Yiyuan Niu, Yan Li, Chao Yuan, Rongqing Geng, Xianyong Lan, Xiaopeng An, Xingui Tian, Huangkai Zhou, Jiuzhou Song, Yu Jiang, Yulin Chen
The goat (Capra hircus) is one of the first farm animals that have undergone domestication and extensive natural and artificial selection by adapting to various environments, which in turn has resulted in its high level of phenotypic diversity. Here, we generated medium-coverage (9-13×) sequences from eight domesticated goat breeds, representing morphologically or geographically specific populations, to identify genomic regions representing selection signatures. We discovered ~10 million single nucleotide polymorphisms (SNPs) for each breed...
December 12, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27934878/activating-cysteinyl-leukotriene-receptor-2-cysltr2-mutations-in-blue-nevi
#7
Inga Möller, Rajmohan Murali, Hansgeorg Müller, Thomas Wiesner, Louise A Jackett, Simone L Scholz, Ioana Cosgarea, Johannes Ap van de Nes, Antje Sucker, Uwe Hillen, Bastian Schilling, Annette Paschen, Heinz Kutzner, Arno Rütten, Martin Böckers, Richard A Scolyer, Dirk Schadendorf, Klaus G Griewank
Blue nevi are common melanocytic tumors arising in the dermal layer of the skin. Similar to uveal melanomas, blue nevi frequently harbor GNAQ and GNA11 mutations. Recently, recurrent CYSLTR2 and PLCB4 mutations were identified in uveal melanomas not harboring GNAQ or GNA11 mutations. All four genes (GNAQ, GNA11, CYSLTR2, and PLCB4) code for proteins involved in the same signaling pathway, which is activated by mutations in these genes. Given the related functional consequences of these mutations and the known genetic similarities between uveal melanoma and blue nevi, we analyzed a cohort of blue nevi to investigate whether CYSLTR2 and PLCB4 mutations occur in tumors lacking GNAQ or GNA11 mutations (as in uveal melanoma)...
December 9, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27914687/braf-nras-kit-tert-gnaq-gna11-mutation-profile-analysis-of-head-and-neck-mucosal-melanomas-a-study-of-42-cases
#8
Şule Öztürk Sari, İsmaİl Yilmaz, Orhun Çiğ Taşkin, Gİzem Narli, Fatma Şen, Şenol Çomoğlu, Pinar Firat, Bİlge Bİlgİç, Dİlek Yilmazbayhan, Yasemİn Özlük, Nesİmİ Büyükbabanİ
Head and neck mucosal melanoma (HNMuM), which occurs mostly in the sinonasal and oral cavity, constitutes less than 1% of all malignant melanomas. Treatment options fail to improve the prognosis of this aggressive tumour that has low overall survival rates. Thus, development of new targeted therapies is essential. Unfortunately, limited data exist regarding their molecular profile. BRAF, NRAS, KIT, TERT and GNAQ/GNA11 oncogene mutations were investigated in 42 HNMuMs (28 sinonasal, 13 oral, 1 nasopharyngeal)...
January 2017: Pathology
https://www.readbyqxmd.com/read/27913609/ap2s1-and-gna11-mutations-not-a-common-cause-of-familial-hypocalciuric-hypercalcemia
#9
Silje Hovden, Lars Rejnmark, Søren A Ladefoged, Peter H Nissen
OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by mutations in the gene encoding the calcium-sensing receptor (CASR). Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients. Similarly, mutations in the gene GNA11 have been shown to cause FHH type 2. We hypothesized that mutations in AP2S1 and GNA11 are causative in Danish patients with suspected FHH and that these mutations are not found in patients with primary hyperparathyroidism (PHPT), which is the main differential diagnostic disorder...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27745836/comprehensive-genetic-landscape-of-uveal-melanoma-by-whole-genome-sequencing
#10
Beryl Royer-Bertrand, Matteo Torsello, Donata Rimoldi, Ikram El Zaoui, Katarina Cisarova, Rosanna Pescini-Gobert, Franck Raynaud, Leonidas Zografos, Ann Schalenbourg, Daniel Speiser, Michael Nicolas, Laureen Vallat, Robert Klein, Serge Leyvraz, Giovanni Ciriello, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we performed whole-genome sequencing at very deep coverage of tumor-control pairs in 33 samples (24 primary and 9 metastases). Genome-wide, the number of coding mutations was rather low (only 17 variants per tumor on average; range 7-28), thus radically different from cutaneous melanoma, where hundreds of exonic DNA insults are usually detected. Furthermore, no UV light-induced mutational signature was identified...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27692166/the-transition-from-a-rural-to-an-urban-environment-in-africa-alters-g-protein-coupled-receptor-signaling
#11
Stephen W Bickler, Eliel Lizardo, David M Cauvi, Antonio De Maio
Urbanization in Africa is associated with an increased incidence of non-communicable diseases, yet the cause and the mechanism remain poorly understood. Here, we propose a role for G protein-coupled receptor (GPCR) signaling in the biological changes that occur with urbanization and suggest a critical area of convergence in GPCR signaling might provide a molecular signature for exposure to environmental factors. As a first step in investing this hypothesis, we examined the expression of the G protein α, β and γ subunit, G protein related kinase, and β-arrestin genes in a rural and urban population living in Morocco (NCBI GSE8847)...
October 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27660484/the-genetics-of-uveal-melanoma-current-insights
#12
REVIEW
Hildur Helgadottir, Veronica Höiom
Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting ~7,000 individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and molecular features as compared to other melanoma subtypes. UMs lack the most typical cutaneous melanoma-associated mutations (BRAF, NRAS, and NF1) and are instead characterized by a different set of genes with oncogenic or loss-of-function mutations. By next-generation sequencing efforts on UM tumors, several driver genes have been detected...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27647839/disorders-of-the-calcium-sensing-receptor-and-partner-proteins-insights-into-the-molecular-basis-of-calcium-homeostasis
#13
REVIEW
Fadil M Hannan, Valerie N Babinsky, Rajesh V Thakker
The extracellular calcium (Ca(2+) o)-sensing receptor (CaSR) is a family C G protein-coupled receptor, which detects alterations in Ca(2+) o concentrations and modulates parathyroid hormone secretion and urinary calcium excretion. The central role of the CaSR in Ca(2+) o homeostasis has been highlighted by the identification of mutations affecting the CASR gene on chromosome 3q21.1. Loss-of-function CASR mutations cause familial hypocalciuric hypercalcaemia (FHH), whereas gain-of-function mutations lead to autosomal dominant hypocalcaemia (ADH)...
October 2016: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/27507190/dual-inhibition-of-protein-kinase-c-and-p53-mdm2-or-pkc-and-mtorc1-are-novel-efficient-therapeutic-approaches-for-uveal-melanoma
#14
Guillaume Carita, Estelle Frisch-Dit-Leitz, Ahmed Dahmani, Chloé Raymondie, Nathalie Cassoux, Sophie Piperno-Neumann, Fariba Némati, Cécile Laurent, Leanne De Koning, Ensar Halilovic, Sebastien Jeay, Andrew Wylie, Caroline Emery, Sergio Roman-Roman, Marie Schoumacher, Didier Decaudin
Uveal melanoma (UM) is the most common cancer of the eye in adults. Many UM patients develop metastases for which no curative treatment has been identified. Novel therapeutic approaches are therefore urgently needed. UM is characterized by mutations in the genes GNAQ and GNA11 which activate the PKC pathway, leading to the use of PKC inhibitors as a rational strategy to treat UM tumors. Encouraging clinical activity has been noted in UM patients treated with PKC inhibitors. However, it is likely that curative treatment regimens will require a combination of targeted therapeutic agents...
June 7, 2016: Oncotarget
https://www.readbyqxmd.com/read/27499153/orbital-meningeal-melanocytoma-histological-immunohistochemical-and-molecular-characterization-of-a-case-and-review-of-the-literature
#15
Andrea Palicelli, Maria Giulia Disanto, Gabriele Panzarasa, Claudia Veggiani, Gabriella Galizia, Stefano Dal Cin, Elisa Gruppioni, Renzo Boldorini
AIMS: We provide morphological, immunohistochemical and molecular characterization of the 3rd "intermediate-grade" orbital meningeal melanocytoma, testing for the first time Vysis Melanoma FISH Probe Kit. We reviewed the literature in order to discuss the main differential diagnoses and to provide a better molecular description of these unusual tumors of difficult diagnosis and controversial management. METHODS: Histochemical stains (Haematoxylin and Eosin, Perls, reticulin), immunohistochemistry (HMB45, p16, Melan-A, S100, EMA, Ki67, CD68), polymerase chain reaction amplification and sequence analysis (BRAF, exon 15; NRAS exons 2 and 3; c-KIT, exons 11, 13, 17, 18; GNAQ, exons 4 and 5; GNA11, exons 4 and 5) and fluorescent in situ hybridization (RREB1, 6p25; MYB, 6q23; CCND1, 11q13; CEP 6, 6p11...
October 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27498141/gnaq-and-gna11-mutations-occur-in-9-5-of-mucosal-melanoma-and-are-associated-with-poor-prognosis
#16
Xinan Sheng, Yan Kong, Yiqian Li, Qiannan Zhang, Lu Si, Chuanliang Cui, Zhihong Chi, Bixia Tang, Lili Mao, Bin Lian, Xuan Wang, Xieqiao Yan, Siming Li, Jie Dai, Jun Guo
BACKGROUND: Mucosal melanoma (MM) is a rare subtype of melanoma in Caucasians with extremely poor prognosis, and therapy strategy has not been clearly established for MM. We aimed to investigate the genetic aberrations possibly applicable in targeted therapy of MM. We examined the somatic mutations of GNAQ and GNA11 (GNAQ/11, encoding the guanine nucleotide-binding alpha subunits) in MM and evaluated their correlation to clinicopathologic features of MM. METHODS: This study collected samples from primary lesions of 284 MM patients...
September 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27486988/epigenetic-reprogramming-and-aberrant-expression-of-prame-are-associated-with-increased-metastatic-risk-in-class-1-and-class-2-uveal-melanomas
#17
Matthew G Field, Michael A Durante, Christina L Decatur, Bercin Tarlan, Kristen M Oelschlager, John F Stone, Jeffim Kuznetsov, Anne M Bowcock, Stefan Kurtenbach, J William Harbour
BACKGROUND: We previously identified PRAME as a biomarker for metastatic risk in Class 1 uveal melanomas. In this study, we sought to define a threshold value for positive PRAME expression (PRAME+) in a large dataset, identify factors associated with PRAME expression, evaluate the prognostic value of PRAME in Class 2 uveal melanomas, and determine whether PRAME expression is associated with aberrant hypomethylation of the PRAME promoter. RESULTS: Among 678 samples analyzed by qPCR, 498 (73...
September 13, 2016: Oncotarget
https://www.readbyqxmd.com/read/27476652/gna14-somatic-mutation-causes-congenital-and-sporadic-vascular-tumors-by-mapk-activation
#18
Young H Lim, Antonella Bacchiocchi, Jingyao Qiu, Robert Straub, Anna Bruckner, Lionel Bercovitch, Deepak Narayan, Jennifer McNiff, Christine Ko, Leslie Robinson-Bostom, Richard Antaya, Ruth Halaban, Keith A Choate
Vascular tumors are among the most common neoplasms in infants and children; 5%-10% of newborns present with or develop lesions within the first 3 months of life. Most are benign infantile hemangiomas that typically regress by 5 years of age; other vascular tumors include congenital tufted angiomas (TAs), kaposiform hemangioendotheliomas (KHEs), and childhood lobular capillary hemangiomas (LCHs). Some of these lesions can become locally invasive and unresponsive to pharmacologic intervention, leading to significant complications...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27460275/cancer-related-gene-alterations-can-be-detected-with-next-generation-sequencing-analysis-of-bile-in-diffusely-infiltrating-type-cholangiocarcinoma
#19
Chang Hun Lee, Hong En Wang, Seung Young Seo, Seong Hun Kim, In Hee Kim, Sang Wook Kim, Soo Teik Lee, Dae Ghon Kim, Myung Kwan Han, Seung Ok Lee
Genome-wide association study in diffusely infiltrating type cholangiocarcinoma (CC) can be limited due to the difficulty of obtaining tumor tissue. We aimed to evaluate the genomic alterations of diffusely infiltrating type CC using next-generation sequencing (NGS) of bile and to compare the variations with those of mass-forming type CC. A total of 24 bile samples obtained during endoscopic retrograde cholangiopancreatography (ERCP) and 17 surgically obtained tumor tissue samples were evaluated. Buffy coat and normal tissue samples were used as controls for a somatic mutation analysis...
August 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27439913/nras-q61k-mutated-primary-leptomeningeal-melanoma-in-a-child-case-presentation-and-discussion-on-clinical-and-diagnostic-implications
#20
Giulia Angelino, Maria Debora De Pasquale, Luigi De Sio, Annalisa Serra, Luca Massimi, Rita De Vito, Antonio Marrazzo, Laura Lancella, Andrea Carai, Manila Antonelli, Felice Giangaspero, Marco Gessi, Laura Menchini, Laura Scarciolla, Daniela Longo, Angela Mastronuzzi
BACKGROUND: Primary melanocytic neoplasms are rare in the pediatric age. Among them, the pattern of neoplastic meningitis represents a peculiar diagnostic challenge since neuroradiological features may be subtle and cerebrospinal fluid analysis may not be informative. Clinical misdiagnosis of neoplastic meningitis with tuberculous meningitis has been described in few pediatric cases, leading to a significant delay in appropriate management of patients. We describe the case of a child with primary leptomeningeal melanoma (LMM) that was initially misdiagnosed with tuberculous meningitis...
2016: BMC Cancer
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