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Gnaq

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https://www.readbyqxmd.com/read/28422819/gnaq-tt-695-694-gc-polymorphism-is-associated-with-increased-gq-expression-vascular-reactivity-and-myocardial-injury-after-coronary-artery-bypass-surgery
#1
Ulrich H Frey, Stefanie Klenke, Anna Mitchell, Tim Knüfermann, Heinz Jakob, Matthias Thielmann, Winfried Siffert, Jürgen Peters
BACKGROUND: Angiotensin II receptor type 1-mediated activation of the α-subunit of the heterotrimeric Gq protein evokes increased vasoconstriction and may promote hypertrophy-induced myocardial damage. The authors recently identified a TT(-695/-694)GC polymorphism in the human Gq promoter, the GC allele being associated with an increased prevalence of cardiac hypertrophy. In this article, the authors tested whether the TT(-695/-694)GC polymorphism is associated with differences in (1) myocardial Gq protein expression, (2) vascular reactivity, and (3) myocardial damage after coronary artery bypass grafting...
April 19, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28409567/sf3b1-and-bap1-mutations-in-blue-nevus-like-melanoma
#2
Klaus G Griewank, Hansgeorg Müller, Louise A Jackett, Michael Emberger, Inga Möller, Johannes Ap van de Nes, Lisa Zimmer, Elisabeth Livingstone, Thomas Wiesner, Simone L Scholz, Ioana Cosgarea, Antje Sucker, Tobias Schimming, Uwe Hillen, Bastian Schilling, Annette Paschen, Henning Reis, Thomas Mentzel, Heinz Kutzner, Arno Rütten, Rajmohan Murali, Richard A Scolyer, Dirk Schadendorf
Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations)...
April 14, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28400465/hypercholesterolemia-impairs-oxytocin-induced-uterine-contractility-in-late-pregnant-mouse
#3
Amol R Padol, Susanth V Sukumaran, Abdul Sadam, Manickam Kesavan, Kandasamy Arunvikram, Ankita D Verma, Vivek Srivastava, Manjit Panigrahi, Thakur Uttam Singh, Avinash G Telang, Santosh K Mishra, Subhashree Parida
High cholesterol is known to negatively affect uterine contractility in ex vivo conditions. The aim of the present study was to reveal the effect of in vivo hypercholesterolemia on spontaneous and oxytocin-induced uterine contractility in late pregnant mouse uterus. Female Swiss albino mice were fed with high cholesterol (HC) diet (0.5% sodium cholate, 1.25% cholesterol and 15% fat) for 6 weeks and then throughout the gestation period after mating. On day 19 of gestation, serum cholesterol level was increased more than 3-fold while triglycerides level was reduced in HC diet-fed animals as compared to control animals fed with a standard diet...
May 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28399339/uveal-melanoma-identifying-immunological-and-chemotherapeutic-targets-to-treat-metastases
#4
Martine J Jager, Mehmet Dogrusöz, Scott E Woodman
Uveal melanoma is an intraocular malignancy that, depending on its size and genetic make-up, may lead to metastases in up to 50% of cases. Currently, no therapy has been proven to improve survival. However, new therapies exploiting immune responses against metastases are being developed. The primary tumor is well characterized: tumors at high risk of developing metastases often contain macrophages and lymphocytes. However, these lymphocytes are often regulatory T cells that may suppress immune response. Currently, immune checkpoint inhibitors have shown marked efficacy in multiple cancers (eg, cutaneous melanoma) but do not yet improve survival in uveal melanoma patients...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28369206/protective-role-and-related-mechanism-of-gnaq-in-neural-cells-damaged-by-oxidative-stress
#5
Nannan Jia, Guoping Li, Pu Huang, Jiazhi Guo, Lugang Wei, Di Lu, Shaochun Chen
Gnaq is a member of G protein family and is rich in brain tissue. It has attracted the attention of many researchers in melanoma due to its high ratio of mutation. We have previously reported that the expression level of Gnaq in the mouse forebrain cortex was significantly decreased with age. Oxidative stress (OS) is the main cause leading to brain aging and related diseases. The roles and mechanisms of Gnaq in antioxidation in the brain have not been fully explored. In the present study, gene recombinant technique and lentivirus transfection technique were used to generate a Gnaq-overexpression cell model (Gnaq-SY5Y) coupled with H2O2 to build an OS model...
March 22, 2017: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/28350126/g%C3%A2-protein-subunit-%C3%AE-q-regulates-gastric-cancer-growth-via-the-p53-p21-and-mek-erk-pathways
#6
Yizhuo Wang, Huijie Xiao, Haitao Wu, Cheng Yao, Hua He, Chang Wang, Wei Li
Genetic alterations in G protein subunit α q (GNAQ) have been reported in numerous types of human cancer. However, the role of GNAQ in human gastric cancer (GC) has not been explored. In the present study, we found that GNAQ was highly expressed in GC patient samples and GNAQ expression was related to patient age, GC differentiation status and adjuvant therapy, as determined by immunohistochemical assay. Lentivirus delivery of short hairpin RNA (shRNA) targeting GNAQ was used to explore the function of GNAQ in GC cells...
April 2017: Oncology Reports
https://www.readbyqxmd.com/read/28295484/who-2016-classification-changes-and-advancements-in-the-diagnosis-of-miscellaneous-primary-cns-tumours
#7
Felix Sahm, David E Reuss, Caterina Giannini
This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal non-meningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non-neuroendocrine pituitary tumours. Most notable classification changes include: adding "hybrid nerve sheath tumours" to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term solitary SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells...
March 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28257297/new-concepts-in-the-molecular-understanding-of-uveal-melanoma
#8
REVIEW
David Reichstein
PURPOSE OF REVIEW: Uveal melanoma is the most common primary intraocular malignancy, and its metastases are deadly. Significant work has been done to elucidate the molecular framework that causes uveal melanoma development and metastasis. This review is intended to highlight the most recent breakthroughs in the molecular understanding of uveal melanoma. RECENT FINDINGS: Monosomy of chromosome 3 and class 2 gene-expression profile are well-known indicators of melanoma metastasis...
May 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28248732/the-role-of-mutation-rates-of-gnaq-or-gna11-in-cases-of-uveal-melanoma-in-japan
#9
Jun Ominato, Takeo Fukuchi, Ayako Sato, Naoyuki Yamaguchi, Kazue Kobayashi, Hiroyuki Cho, Tokuhide Oyama, Yoichi Ajioka
GNAQ and GNA11 mutations are thought to be important for the tumorigenesis of uveal melanoma. Although previous studies have reported on mutation rates in cases of uveal melanoma, presently, no such report for the Japanese population exists. In this study, we examined the frequency of GNAQ and GNA11 somatic mutations in cases of uveal melanoma in Japan and their relationship with clinicopathologic features or Ki-67-positive cell rates (Ki-67 labeling index: Ki-67 LI) using immunofluorescence methods. The study involved 19 cases of uveal melanoma...
February 28, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28229253/the-biology-of-uveal-melanoma
#10
Adriana Amaro, Rosaria Gangemi, Francesca Piaggio, Giovanna Angelini, Gaia Barisione, Silvano Ferrini, Ulrich Pfeffer
Uveal melanoma (UM), a rare cancer of the eye, is distinct from cutaneous melanoma by its etiology, the mutation frequency and profile, and its clinical behavior including resistance to targeted therapy and immune checkpoint blockers. Primary disease is efficiently controlled by surgery or radiation therapy, but about half of UMs develop distant metastasis mostly to the liver. Survival of patients with metastasis is below 1 year and has not improved in decades. Recent years have brought a deep understanding of UM biology characterized by initiating mutations in the G proteins GNAQ and GNA11...
March 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28228113/validation-of-an-ngs-mutation-detection-panel-for-melanoma
#11
Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead, Ian A Cree
BACKGROUND: Knowledge of the genotype of melanoma is important to guide patient management. Identification of mutations in BRAF and c-KIT lead directly to targeted treatment, but it is also helpful to know if there are driver oncogene mutations in NRAS, GNAQ or GNA11 as these patients may benefit from alternative strategies such as immunotherapy. METHODS: While polymerase chain reaction (PCR) methods are often used to detect BRAF mutations, next generation sequencing (NGS) is able to determine all of the necessary information on several genes at once, with potential advantages in turnaround time...
February 22, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28223438/dysregulated-gpcr-signaling-and-therapeutic-options-in-uveal-melanoma
#12
Vivian Chua, Dominic Lapadula, Clinita Randolph, Jeffrey L Benovic, Philip Wedegaertner, Andrew E Aplin
Uveal melanoma (UM) is the most common primary intraocular malignant tumor in adults and arises from the transformation of melanocytes in the uveal tract. Even after treatment of the primary tumor, up to 50% of patients succumb to metastatic disease. The liver is the predominant organ of metastasis. There is an important need to provide effective treatment options for advanced stage UM. In order to provide the preclinical basis for new treatments, it is important to understand the molecular underpinnings of the disease...
February 21, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28203054/uveal-melanoma-epidemiology-etiology-and-treatment-of-primary-disease
#13
REVIEW
Benjamin A Krantz, Nikita Dave, Kimberly M Komatsubara, Brian P Marr, Richard D Carvajal
Uveal melanoma (UM) is the most common intraocular malignancy and arises from melanocytes in the iris, ciliary body, or choroid. Early diagnosis and local treatment is crucial, as survival correlates with primary tumor size. However, approximately 50% of patients will develop metastatic disease with 6-12 months' survival from metastatic diagnosis. Genomic analyses have led to the development of gene-expression profiles that effectively predict metastatic progression; unfortunately, no adjuvant therapy has been shown to prolong survival to date...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28197018/g%C3%AE-q-regulates-the-development-of-rheumatoid-arthritis-by-modulating-th1-differentiation
#14
Dashan Wang, Yuan Liu, Yan Li, Yan He, Jiyun Zhang, Guixiu Shi
The Gαq-containing G protein, an important member of Gq/11 class, is ubiquitously expressed in mammalian cells. Gαq has been found to play an important role in immune regulation and development of autoimmune disease such as rheumatoid arthritis (RA). However, how Gαq participates in the pathogenesis of RA is still not fully understood. In the present study, we aimed to find out whether Gαq controls RA via regulation of Th1 differentiation. We observed that the expression of Gαq was negatively correlated with the expression of signature Th1 cytokine (IFN-γ) in RA patients, which suggests a negative role of Gαq in differentiation of Th1 cells...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28179590/whole-exome-sequencing-identified-mutational-profiles-of-high-grade-colon-adenomas
#15
Sung Hak Lee, Seung Hyun Jung, Tae-Min Kim, Je-Keun Rhee, Hyeon-Chun Park, Min Sung Kim, Sung Soo Kim, Chang Hyeok An, Sug Hyung Lee, Yeun-Jun Chung
Although gene-to-gene analyses identified genetic alterations such as APC, KRAS and TP53 mutations in colon adenomas, it is largely unknown whether there are any others in them. Mutational profiling of high-grade colon adenoma (HGCA) that just precedes colon carcinoma might identify not only novel adenoma-specific genes but also critical genes for its progression to carcinoma. For this, we performed whole-exome sequencing (WES) of 12 HGCAs and identified 11 non-hypermutated and one hypermutated (POLE-mutated) cases...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28174748/requirement-of-g%C3%AE-q-g%C3%AE-11-signaling-in-the-preservation-of-mouse-intestinal-epithelial-homeostasis
#16
Noboru Watanabe, Hirosato Mashima, Kouichi Miura, Takashi Goto, Makoto Yoshida, Akiteru Goto, Hirohide Ohnishi
BACKGROUND & AIMS: Proliferation, differentiation, and morphogenesis of the intestinal epithelium are tightly regulated by a number of molecular pathways. Coordinated action of intestine is achieved by gastrointestinal hormones, most of which exert these actions through G-protein-coupled receptors. We herein investigated the role of Gαq/11-mediated signaling in intestinal homeostasis. METHODS: Intestinal tissues from control (Gnaq(flox/flox)Gna11(+/+) ), Int-Gq knock-out (KO) (VilCre(+/-)Gnaq(flox/flox)Gna11(+/+) ), G11 KO (Gnaq(flox/flox)Gna11(-/-) ), and Int-Gq/G11 double knock-out (DKO) (VilCre(+/-)Gnaq(flox/flox)Gna11(-/-) ) mice were examined by microscopy, transmission electron microscopy, and immunohistochemistry...
November 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28141766/choroidal-nevus-a-review-of-prevalence-features-genetics-risks-and-outcomes
#17
REVIEW
Jason L Chien, Kareem Sioufi, Thamolwan Surakiatchanukul, Jerry A Shields, Carol L Shields
PURPOSE OF REVIEW: To review the prevalence, clinical features, imaging findings, cytogenetics, and risks and outcomes of choroidal nevus. RECENT FINDINGS: Choroidal nevus is a benign melanocytic tumor, often discovered incidentally on ophthalmic examination. This lesion is generally well circumscribed and pigmented. The prevalence of choroidal nevus in postequatorial region in United States adults (≥40 years old) is approximately 5%. Choroidal nevus is associated with higher lifetime unopposed estrogen and greater BMI...
May 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28126187/sturge-weber-syndrome-a-review
#18
E Higueros, E Roe, E Granell, E Baselga
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma...
January 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28120216/a-somatic-gna11-mutation-is-associated-with-extremity-capillary-malformation-and-overgrowth
#19
Javier A Couto, Ugur M Ayturk, Dennis J Konczyk, Jeremy A Goss, August Y Huang, Steve Hann, Jennifer L Reeve, Marilyn G Liang, Joyce Bischoff, Matthew L Warman, Arin K Greene
BACKGROUND: Capillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic activating mutation in GNAQ. In a previous study, we were unable to identify a GNAQ mutation in patients with a capillary malformation involving an overgrown lower extremity. We hypothesized that mutations in GNA11 or GNA14, genes closely related to GNAQ, also may cause capillary malformations...
January 24, 2017: Angiogenesis
https://www.readbyqxmd.com/read/28106494/letter-to-the-editor-role-of-mutational-status-of-gnaq-and-gna11-in-the-diagnosis-of-melanocytic-tumors
#20
Yislenz Narváez-Martínez, Marc Sagristà-Garcia, Maria Teresa Fernandez-Figueras
No abstract text is available yet for this article.
January 20, 2017: Journal of Neurosurgery
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