keyword
MENU ▼
Read by QxMD icon Read
search

Gnaq

keyword
https://www.readbyqxmd.com/read/29059311/sox10-expression-as-well-as-braf-and-gnaq-11-mutations-distinguish-pigmented-ciliary-epithelium-neoplasms-from-uveal-melanomas
#1
Taisuke Mori, Aoi Sukeda, Shigeki Sekine, Shinsuke Shibata, Eijitsu Ryo, Hideyuki Okano, Shigenobu Suzuki, Nobuyoshi Hiraoka
Purpose: Adenocarcinomas or adenomas derived from pigmented ciliary epithelium (APCE) are exceptionally rare ocular tumors. These tumors have pigmented and epithelioid features, and some APCEs are negative for keratin markers and positive for melanocytic markers. It is especially difficult to distinguish APCEs from uveal melanoma (UM). Accordingly, we examined protein expression and genetic mutations associated with APCE to facilitate diagnosis. Methods: Five APCE and 11 UM samples were obtained from patients during surgical resection at our institute...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28984303/analysis-of-clinically-relevant-somatic-mutations-in-high-risk-head-and-neck-cutaneous-squamous-cell-carcinoma
#2
Catherine Zilberg, Matthew Weicai Lee, Bing Yu, Bruce Ashford, Spiridoula Kraitsek, Marie Ranson, Kerwin Shannon, Mark Cowley, N Gopalakrishna Iyer, Carsten E Palme, Sydney Ch'ng, Tsu-Hui Hubert Low, Sandra O'Toole, Jonathan R Clark, Ruta Gupta
Cutaneous squamous cell carcinoma is the second most prevalent malignancy, most frequently occurring in the head and neck (head and neck cutaneous squamous cell carcinoma). Treatment of locally advanced or metastatic disease is associated with functional morbidity and disfigurement. Underlying genetic mechanisms are poorly understood. Targeted sequencing of 48 clinically relevant genes was performed on DNA extracted from formalin-fixed and paraffin-embedded high-risk primary head and neck cutaneous squamous cell carcinomas that remained non-metastatic at minimum follow-up of 24 months...
October 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28982892/uveal-melanoma-gnaq-and-gna11-mutations-in-a-greek-population
#3
Filippos Psinakis, Anastasia Katseli, Chryssanthy Koutsandrea, Konstantina Frangia, Lina Florentin, Despina Apostolopoulou, Konstantina Dimakopoulou, Dimitrios Papakonstantinou, Eleni Georgopoulou, Dimitrios Brouzas
BACKGROUND/AIM: Uveal melanoma is the most common primary adult intraocular malignancy. It is known to have a strong metastatic potential, fatal for the vast majority of patients. In recent years, meticulous cytogenetic and molecular profiling has led to precise prognostication, that unfortunately is not matched by advancements in adjuvant therapies. G Protein subunits alpha Q (GNAQ) and alpha 11 (GNA11) are two of the major driver genes that contribute to the development of uveal melanoma...
October 2017: Anticancer Research
https://www.readbyqxmd.com/read/28972303/kinome-wide-transcriptional-profiling-of-uveal-melanoma-reveals-new-vulnerabilities-to-targeted-therapeutics
#4
Fiona P Bailey, Kim Clarke, Helen Kalirai, Jenna Kenyani, Haleh Shahidipour, Francesco Falciani, Judy M Coulson, Joseph J Sacco, Sarah E Coupland, Patrick A Eyers
Metastatic uveal melanoma (UM) is invariably fatal, usually within a year of diagnosis. There are currently no effective therapies, and clinical studies employing kinase inhibitors have so far demonstrated limited success. This is despite common activating mutations in GNAQ/11 genes, which trigger signalling pathways that might predispose tumours to a variety of targeted drugs. In this study, we have profiled kinome expression network dynamics in various human ocular melanomas. We uncovered a shared transcriptional profile in human primary UM samples and across a variety of experimental cell-based models...
October 3, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28941044/potential-biological-targets-for-bioassay-development-in-drug-discovery-of-sturge-weber-syndrome
#5
REVIEW
Fatemeh Mohammadipanah, Fatemeh Salimi
Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurologic (seizures), and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis...
September 21, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28881731/detection-of-braf-nras-kit-gnaq-gna11-and-map2k1-2-mutations-in-russian-melanoma-patients-using-lna-pcr-clamp-and-biochip-analysis
#6
Marina Emelyanova, Lilit Ghukasyan, Ivan Abramov, Oxana Ryabaya, Evgenia Stepanova, Anna Kudryavtseva, Asiya Sadritdinova, Cholpon Dzhumakova, Tatiana Belysheva, Sergey Surzhikov, Lyudmila Lyubchenko, Alexander Zasedatelev, Tatiana Nasedkina
Target inhibitors are used for melanoma treatment, and their effectiveness depends on the tumor genotype. We developed a diagnostic biochip for the detection of 39 clinically relevant somatic mutations in the BRAF, NRAS, KIT, GNAQ, GNA11, MAP2K1 and MAP2K2 genes. We used multiplex locked nucleic acid (LNA) PCR clamp for the preferable amplification of mutated over wild type DNA. The amplified fragments were labeled via the incorporation of fluorescently labeled dUTP during PCR and were hybridized with specific oligonucleotides immobilized on a biochip...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28809862/gnaq-and-gna11-mutations-and-downstream-yap-activation-in-choroidal-nevi
#7
M J C Vader, M C Madigan, M Versluis, H M Suleiman, G Gezgin, N A Gruis, J J Out-Luiting, W Bergman, R M Verdijk, M J Jager, P A van der Velden
BACKGROUND: Mutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus. The Hippo pathway, by way of YAP activation, rather than MAP kinase, has a role in the oncogenic capacity of GNAQ/11 mutations. METHODS: We investigated 16 nevi from 13 human eyes for driver GNAQ/11 mutations using droplet digital PCR and determined whether nevi are clonal by quantifying mutant nevus cell fractions...
September 5, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28802492/blue-nevi-and-related-tumors
#8
REVIEW
Artur Zembowicz
The major entities related to blue nevus are common blue nevus, cellular blue nevus, atypical blue nevus, and malignant blue nevus. These lesions share presence of dermal pigmented dendritic melanocytes derived from embryonal precursors to melanocytes, Schwann cells, and glial cells migrating to the skin from the ventral neural crest. Genetically, blue nevi harbor mutations in G-protein-coupled receptor subunits GNAQ and GNA11. Progression to malignant blue nevus is associated with additional mutations and partial gains and losses of chromosomal material...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28796000/genomic-analysis-of-pigmented-epithelioid-melanocytomas-reveals-recurrent-alterations-in-prkar1a-and-prkca-genes
#9
Jarish N Cohen, Nancy M Joseph, Jeffrey P North, Courtney Onodera, Artur Zembowicz, Philip E LeBoit
Pigmented epithelioid melanocytoma (PEM) is a rare cutaneous melanocytic tumor first described as epithelioid blue nevus in patients with the Carney Complex (CC). PEM was among the first established examples of an intermediate class of melanocytic tumors, including atypical Spitz tumors, with frequent metastasis to lymph nodes but only rare extranodal spread. Sporadic and CC-associated PEM are essentially histologically indistinguishable. A subset of PEM shows loss of cytoplasmic expression of the protein kinase A regulatory subunit alpha (PRKAR1A), a tumor suppressor gene mutated in 70% of families with CC...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28728954/ultrasound-histopathological-and-genetic-features-of-uveal-melanoma-in-a-mexican-mestizo-population
#10
S Delgado, A Rodriguez Reyes, L Mora Rios, A Dueñas-González, L Taja-Chayeb, E Moragrega Adame
OBJECTIVE: To describe the ultrasound, histopathological and genetic characteristics of uveal melanoma in a Mexican-Mestizo population. MATERIAL AND METHODS: A total of 39 enucleated eyes with a histopathological diagnosis of uveal melanoma were assessed by describing the clinical findings, and ultrasound, histopathological and genetic features. RESULTS: A high correlation was observed between tumour height measurement using ultrasound and histopathology...
July 17, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28704922/transcriptome-differences-in-porcine-alveolar-macrophages-from-tongcheng-and-large-white-pigs-in-response-to-highly-pathogenic-porcine-reproductive-and-respiratory-syndrome-virus-prrsv-infection
#11
Wan Liang, Likai Ji, Yu Zhang, Yueran Zhen, Qingde Zhang, Xuewen Xu, Bang Liu
Porcine reproductive and respiratory syndrome virus (PRRSV) is a single-stranded positive-sense RNA virus that can cause devastating reproductive failure and respiratory tract lesions, which has led to serious damage to the swine industry worldwide. Our previous studies have indicated that Tongcheng (TC) pigs, a Chinese local breed, have stronger resistance or tolerance to PRRSV infection than Large White (LW) pigs. This study aims to investigate their host transcriptome differences in porcine alveolar macrophages (PAMs) at 7 days post challenge...
July 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28700778/frequent-gnaq-gna11-and-eif1ax-mutations-in-iris-melanoma
#12
Simone L Scholz, Inga Möller, Henning Reis, Daniela Süßkind, Johannes A P van de Nes, Sonia Leonardelli, Bastian Schilling, Elisabeth Livingstone, Tobias Schimming, Annette Paschen, Antje Sucker, Rajmohan Murali, Klaus-Peter Steuhl, Dirk Schadendorf, Henrike Westekemper, Klaus G Griewank
Purpose: The most common malignant intraocular tumors with a high mortality in adults are uveal melanomas. Uveal melanomas arise most frequently in the choroid or ciliary body (97%) and rarely in the iris (3%). Whereas conjunctival and posterior uveal (ciliary body and choroidal) melanomas have been studied in more detail genetically, little data exist regarding iris melanomas. Methods: In our study, we genetically analyzed 19 iris melanomas, 8 ciliary body melanomas, 3 ring melanomas, and 4 iris nevi...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28594900/systematic-genomic-and-translational-efficiency-studies-of-uveal-melanoma
#13
Chelsea Place Johnson, Ivana K Kim, Bita Esmaeli, Ali Amin-Mansour, Daniel J Treacy, Scott L Carter, Eran Hodis, Nikhil Wagle, Sara Seepo, Xiaoxing Yu, Anne Marie Lane, Evangelos S Gragoudas, Francisca Vazquez, Elizabeth Nickerson, Kristian Cibulskis, Aaron McKenna, Stacey B Gabriel, Gad Getz, Eliezer M Van Allen, Peter A C 't Hoen, Levi A Garraway, Scott E Woodman
To further our understanding of the somatic genetic basis of uveal melanoma, we sequenced the protein-coding regions of 52 primary tumors and 3 liver metastases together with paired normal DNA. Known recurrent mutations were identified in GNAQ, GNA11, BAP1, EIF1AX, and SF3B1. The role of mutated EIF1AX was tested using loss of function approaches including viability and translational efficiency assays. Knockdown of both wild type and mutant EIF1AX was lethal to uveal melanoma cells. We probed the function of N-terminal tail EIF1AX mutations by performing RNA sequencing of polysome-associated transcripts in cells expressing endogenous wild type or mutant EIF1AX...
2017: PloS One
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
#14
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/28571101/gnaq-mutation-in-the-venous-vascular-malformation-and-underlying-brain-tissue-in-sturge-weber-syndrome
#15
Senthil K Sundaram, Sharon K Michelhaugh, Neil V Klinger, William J Kupsky, Sandeep Sood, Harry T Chugani, Sandeep Mittal, Csaba Juhász
No abstract text is available yet for this article.
October 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28570277/epithelial-gpr116-regulates-pulmonary-alveolar-homeostasis-via-gq-11-signaling
#16
Kari Brown, Alyssa Filuta, Marie-Gabrielle Ludwig, Klaus Seuwen, Julian Jaros, Solange Vidal, Kavisha Arora, Anjaparavanda P Naren, Kathirvel Kandasamy, Kaushik Parthasarathi, Stefan Offermanns, Robert J Mason, William E Miller, Jeffrey A Whitsett, James P Bridges
Pulmonary function is dependent upon the precise regulation of alveolar surfactant. Alterations in pulmonary surfactant concentrations or function impair ventilation and cause tissue injury. Identification of the molecular pathways that sense and regulate endogenous alveolar surfactant concentrations, coupled with the ability to pharmacologically modulate them both positively and negatively, would be a major therapeutic advance for patients with acute and chronic lung diseases caused by disruption of surfactant homeostasis...
June 2, 2017: JCI Insight
https://www.readbyqxmd.com/read/28486107/rasgrp3-mediates-mapk-pathway-activation-in-gnaq-mutant-uveal-melanoma
#17
Xu Chen, Qiuxia Wu, Philippe Depeille, Peirong Chen, Sophie Thornton, Helen Kalirai, Sarah E Coupland, Jeroen P Roose, Boris C Bastian
Constitutive activation of Gαq signaling by mutations in GNAQ or GNA11 occurs in over 80% of uveal melanomas (UMs) and activates MAPK. Protein kinase C (PKC) has been implicated as a link, but the mechanistic details remained unclear. We identified PKC δ and ɛ as required and sufficient to activate MAPK in GNAQ mutant melanomas. MAPK activation depends on Ras and is caused by RasGRP3, which is significantly and selectively overexpressed in response to GNAQ/11 mutation in UM. RasGRP3 activation occurs via PKC δ- and ɛ-dependent phosphorylation and PKC-independent, DAG-mediated membrane recruitment, possibly explaining the limited effect of PKC inhibitors to durably suppress MAPK in UM...
May 8, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28475519/genomic-assessment-of-blitz-nevi-suggests-classification-as-a-subset-of-blue-nevus-rather-than-spitz-nevus-clinical-histopathologic-and-molecular-analysis-of-18-cases
#18
Maria C Isales, Alexandra M Haugh, Jeffrey Bubley, Anna E Verzì, Bin Zhang, Emily Kudalkar, Christina Y Lee, Pedram Yazdan, Joan Guitart, Pedram Gerami
Blitz nevi/tumors are a distinct subset of melanocytic neoplasia which show mixed morphologic features of Spitz and blue nevus. Genomically, most blue nevi have GNAQ or GNA11 mutations while most Spitzoid neoplasms have either an HRAS mutation or translocations involving MET, ROS, BRAF, ALK1, NTRK1, and RET. The criteria used for the assessment of malignancy in blue and Spitzoid lesions are different, and these lesions have different prognostic markers. In this study, we assess the clinical, morphological, and genomic changes in 18 cases of Blitz nevi/tumors to better characterize this subset of neoplasms and determine their optimal genomic classification...
April 27, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28459499/potential-biological-targets-for-bioassay-development-in-drug-discovery-of-sturge-weber-syndrome
#19
REVIEW
Fatemeh Mohammadipanah, Fatemeh Salimi
Sturge-Weber Syndrome (SWS) is among the neurocutaneous diseases, which has several clinical manifestations of ocular (glaucoma), cutaneous (port-wine stain), neurological (seizures) and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for the SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis...
April 29, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28455977/detection-of-braf-nras-kit-gnaq-gna11-and-map2k1-2-mutations-in-russian-melanoma-patients-using-lna-pcr-clamp-and-biochip-analysis
#20
Marina Emelyanova, Lilit Ghukasyan, Ivan Abramov, Oxana Ryabaya, Evgenia Stepanova, Anna Kudryavtseva, Asiya Sadritdinova, Cholpon Dzhumakova, Tatiana Belysheva, Sergey Surzhikov, Lyudmila Lyubchenko, Alexander Zasedatelev, Tatiana Nasedkina
Target inhibitors are used for melanoma treatment, and their effectiveness depends on the tumor genotype. We developed a diagnostic biochip for the detection of 39 clinically relevant somatic mutations in the BRAF, NRAS, KIT, GNAQ, GNA11, MAP2K1 and MAP2K2 genes.We used multiplex locked nucleic acid (LNA) PCR clamp for the preferable amplification of mutated over wild type DNA. The amplified fragments were labeled via the incorporation of fluorescently labeled dUTP during PCR and were hybridized with specific oligonucleotides immobilized on a biochip...
April 10, 2017: Oncotarget
keyword
keyword
25596
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"