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Gna14

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https://www.readbyqxmd.com/read/27476652/gna14-somatic-mutation-causes-congenital-and-sporadic-vascular-tumors-by-mapk-activation
#1
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/26248772/g-protein-genomic-association-with-normal-variation-in-gray-matter-density
#2
Jiayu Chen, Vince D Calhoun, Alejandro Arias-Vasquez, Marcel P Zwiers, Kimm van Hulzen, Guillén Fernández, Simon E Fisher, Barbara Franke, Jessica A Turner, Jingyu Liu
While detecting genetic variations underlying brain structures helps reveal mechanisms of neural disorders, high data dimensionality poses a major challenge for imaging genomic association studies. In this work, we present the application of a recently proposed approach, parallel independent component analysis with reference (pICA-R), to investigate genomic factors potentially regulating gray matter variation in a healthy population. This approach simultaneously assesses many variables for an aggregate effect and helps to elicit particular features in the data...
November 2015: Human Brain Mapping
https://www.readbyqxmd.com/read/25329542/genomic-scan-reveals-loci-under-altitude-adaptation-in-tibetan-and-dahe-pigs
#3
Kunzhe Dong, Na Yao, Yabin Pu, Xiaohong He, Qianjun Zhao, Yizhao Luan, Weijun Guan, Shaoqi Rao, Yuehui Ma
High altitude environments are of particular interest in the studies of local adaptation as well as their implications in physiology and clinical medicine in human. Some Chinese pig breeds, such as Tibetan pig (TBP) that is well adapted to the high altitude and Dahe pig (DHP) that dwells at the moderate altitude, provide ideal materials to study local adaptation to altitudes. Yet, it is still short of in-depth analysis and understanding of the genetic adaptation to high altitude in the two pig populations. In this study we conducted a genomic scan for selective sweeps using FST to identify genes showing evidence of local adaptations in TBP and DHP, with Wuzhishan pig (WZSP) as the low-altitude reference...
2014: PloS One
https://www.readbyqxmd.com/read/24958088/using-sirna-to-define-functional-interactions-between-melanopsin-and-multiple-g-protein-partners
#4
Steven Hughes, Aarti Jagannath, Doron Hickey, Silvia Gatti, Matthew Wood, Stuart N Peirson, Russell G Foster, Mark W Hankins
Melanopsin expressing photosensitive retinal ganglion cells (pRGCs) represent a third class of ocular photoreceptors and mediate a range of non-image forming responses to light. Melanopsin is a G protein coupled receptor (GPCR) and existing data suggest that it employs a membrane bound signalling cascade involving Gnaq/11 type G proteins. However, to date the precise identity of the Gα subunits involved in melanopsin phototransduction remains poorly defined. Here we show that Gnaq, Gna11 and Gna14 are highly co-expressed in pRGCs of the mouse retina...
January 2015: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/24870805/loss-of-gq-11-genes-does-not-abolish-melanopsin-phototransduction
#5
Kylie S Chew, Tiffany M Schmidt, Alan C Rupp, Paulo Kofuji, Jeffrey M Trimarchi
In mammals, a subset of retinal ganglion cells (RGCs) expresses the photopigment melanopsin, which renders them intrinsically photosensitive (ipRGCs). These ipRGCs mediate various non-image-forming visual functions such as circadian photoentrainment and the pupillary light reflex (PLR). Melanopsin phototransduction begins with activation of a heterotrimeric G protein of unknown identity. Several studies of melanopsin phototransduction have implicated a G-protein of the Gq/11 family, which consists of Gna11, Gna14, Gnaq and Gna15, in melanopsin-evoked depolarization...
2014: PloS One
https://www.readbyqxmd.com/read/24797109/subcellular-distribution-patterns-and-elevated-expression-of-gna11-and-gna14-proteins-in-the-lungs-of-humans-with-pulmonary-arterial-hypertension
#6
Wei Lei, Puwen Chen, Yuxia Yue, Yuan He, Xiaorong Shui, Guoming Li, Liangqing Zhang, Shian Huang, Can Chen
Pulmonary arterial hypertension (PAH), a progressive and devastating disease, is characterized by abnormal proliferation of pulmonary artery endothelial and smooth muscle cells. GTP-binding protein subunits, GNA11 and GNA14, transmembrane and intracellular signaling molecules, participate in the regulating endothelial function and vascular development. We followed the expression of GNA11 and GNA14 in human lungs in control and PAH patients using immunohistochemical and Western blot analyses. Both GNA11 and GNA14 were expressed in lung tissue, primarily in artery endothelial and smooth muscle cells...
September 2014: Cell Biology International
https://www.readbyqxmd.com/read/24423937/expression-of-g-protein-subunit-%C3%AE-14-is-increased-in-human-placentas-from-preeclamptic-pregnancies
#7
Ying-Jie Zhao, Qing-Yun Zou, Yan Li, Hui-Hui Li, Yan-Ming Wu, Xing-Fu Li, Kai Wang, Jing Zheng
G-proteins mediate cellular function upon interaction with G-protein coupled receptors. Of the 16 mammalian G-protein α subunits identified, G-protein subunit α-11 (GNA11) and -14 (GNA14) have been implicated in modulating hypertension and endothelial function. However, little is known about their expression and roles in human placentas. Here, we examined GNA11 and GNA14 protein expression in first trimester (FT), normal term (NT), and severe preeclamptic (sPE) human placentas as well as in NT human umbilical cords...
May 2014: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/23975421/tnf-%C3%AE-tnfr1-signaling-promotes-gastric-tumorigenesis-through-induction-of-noxo1-and-gna14-in-tumor-cells
#8
H Oshima, T Ishikawa, G J Yoshida, K Naoi, Y Maeda, K Naka, X Ju, Y Yamada, T Minamoto, N Mukaida, H Saya, M Oshima
Helicobacter pylori infection induces chronic inflammation that contributes to gastric tumorigenesis. Tumor necrosis factor (TNF-α) is a proinflammatory cytokine, and polymorphism in the TNF-α gene increases the risk of gastric cancer. We herein investigated the role of TNF-α in gastric tumorigenesis using Gan mouse model, which recapitulates human gastric cancer development. We crossed Gan mice with TNF-α (Tnf) or TNF-α receptor TNFR1 (Tnfrsf1a) knockout mice to generate Tnf-/- Gan and Tnfrsf1a-/- Gan mice, respectively, and examined their tumor phenotypes...
July 17, 2014: Oncogene
https://www.readbyqxmd.com/read/23418310/tumoral-epas1-hif2a-mutations-explain-sporadic-pheochromocytoma-and-paraganglioma-in-the-absence-of-erythrocytosis
#9
Iñaki Comino-Méndez, Aguirre A de Cubas, Carmen Bernal, Cristina Álvarez-Escolá, Carolina Sánchez-Malo, César L Ramírez-Tortosa, Susana Pedrinaci, Elena Rapizzi, Tonino Ercolino, Giampaolo Bernini, Alessandra Bacca, Rocío Letón, Guillermoó Pita, María R Alonso, Luis J Leandro-García, Alvaro Gómez-Graña, Lucía Inglada-Pérez, Veronika Mancikova, Cristina Rodríguez-Antona, Massimo Mannelli, Mercedes Robledo, Alberto Cascón
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development. Recently, somatic post-zygotic mutations in EPAS1 (HIF2A) have been found in patients with multiple PGLs and congenital erythrocytosis...
June 1, 2013: Human Molecular Genetics
https://www.readbyqxmd.com/read/23029001/expression-analysis-of-taste-signal-transduction-molecules-in-the-fungiform-and-circumvallate-papillae-of-the-rhesus-macaque-macaca-mulatta
#10
Yoshiro Ishimaru, Miki Abe, Tomiko Asakura, Hiroo Imai, Keiko Abe
The molecular mechanisms of the mammalian gustatory system have been examined in many studies using rodents as model organisms. In this study, we examined the mRNA expression of molecules involved in taste signal transduction in the fungiform papillae (FuP) and circumvallate papillae (CvP) of the rhesus macaque, Macaca mulatta, using in situ hybridization. TAS1R1, TAS1R2, TAS2Rs, and PKD1L3 were exclusively expressed in different subsets of taste receptor cells (TRCs) in the FuP and CvP. This finding suggests that TRCs sensing different basic taste modalities are mutually segregated in macaque taste buds...
2012: PloS One
https://www.readbyqxmd.com/read/22471599/mouse-obesity-network-reconstruction-with-a-variational-bayes-algorithm-to-employ-aggressive-false-positive-control
#11
Benjamin A Logsdon, Gabriel E Hoffman, Jason G Mezey
BACKGROUND: We propose a novel variational Bayes network reconstruction algorithm to extract the most relevant disease factors from high-throughput genomic data-sets. Our algorithm is the only scalable method for regularized network recovery that employs Bayesian model averaging and that can internally estimate an appropriate level of sparsity to ensure few false positives enter the model without the need for cross-validation or a model selection criterion. We use our algorithm to characterize the effect of genetic markers and liver gene expression traits on mouse obesity related phenotypes, including weight, cholesterol, glucose, and free fatty acid levels, in an experiment previously used for discovery and validation of network connections: an F2 intercross between the C57BL/6 J and C3H/HeJ mouse strains, where apolipoprotein E is null on the background...
2012: BMC Bioinformatics
https://www.readbyqxmd.com/read/18632756/variable-dna-methylation-patterns-associated-with-progression-of-disease-in-hepatocellular-carcinomas
#12
Wentao Gao, Yutaka Kondo, Lanlan Shen, Yasuhiro Shimizu, Tsuyoshi Sano, Kenji Yamao, Atsushi Natsume, Yasuhiro Goto, Motokazu Ito, Hideki Murakami, Hirotaka Osada, Jiexin Zhang, Jean-Pierre J Issa, Yoshitaka Sekido
Hepatocellular carcinoma (HCC) most commonly arises from chronic inflammation due to viral infection, as a result of genetic and epigenetic abnormalities. A global picture of epigenetic changes in HCC is lacking. We used methylated CpG island amplification microarrays (MCAMs) to study 6458 CpG islands in HCC and adjacent preneoplastic tissues [chronic hepatitis (CH) or liver cirrhosis (LC)] in comparison with normal liver tissues where neither viral infection nor hepatitis has existed. MCAM identified 719 (11%) prominent genes of hypermethylation in HCCs...
October 2008: Carcinogenesis
https://www.readbyqxmd.com/read/18528427/genome-wide-identification-of-aberrantly-methylated-promoter-associated-cpg-islands-in-acute-lymphocytic-leukemia
#13
S-Q Kuang, W-G Tong, H Yang, W Lin, M K Lee, Z H Fang, Y Wei, J Jelinek, J-P Issa, G Garcia-Manero
We performed a genome-wide analysis of promoter associated CpG island methylation using methylated CpG island amplification (MCA) coupled to representational differential analysis (RDA) or a DNA promoter microarray in acute lymphoblastic leukemia (ALL). We identified 65 potential targets of methylation with the MCA/RDA approach, and 404 with the MCA/array. Thirty-six (77%) of the genes identified by MCA/RDA were shared by the MCA/array approach. Chromosomal location of these genes was evenly distributed in all autosomes...
August 2008: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/18360038/identification-of-hypertension-susceptibility-genes-and-pathways-by-a-systemic-multiple-candidate-gene-approach-the-millennium-genome-project-for-hypertension
#14
Katsuhiko Kohara, Yasuharu Tabara, Jun Nakura, Yutaka Imai, Takayoshi Ohkubo, Akira Hata, Masayoshi Soma, Tomohiro Nakayama, Satoshi Umemura, Nobuhito Hirawa, Hirotsugu Ueshima, Yoshikuni Kita, Toshio Ogihara, Tomohiro Katsuya, Norio Takahashi, Katsushi Tokunaga, Tetsuro Miki
A multiple candidate-gene approach was used to investigate not only candidate genes, but also candidate pathways involved in the regulation of blood pressure. We evaluated 307 single nucleotide polymorphisms (SNPs) in 307 genes and performed an association study between 758 cases and 726 controls. Genes were selected from among those encoding components of signal transduction pathways, including receptors, soluble carrier proteins, binding proteins, channels, enzymes, and G-proteins, that are potentially related to blood pressure regulation...
February 2008: Hypertension Research: Official Journal of the Japanese Society of Hypertension
https://www.readbyqxmd.com/read/18330691/cloning-expression-pattern-chromosomal-localization-and-evolution-analysis-of-porcine-gnaq-gna11-and-gna14
#15
Huaping Chen, Wenshu Yao, Dan Jin, Tao Xia, Xiaodong Chen, Ting Lei, Lei Zhou, Zaiqing Yang
The Gq class is one subfamily of the G protein alpha subunits multigene family. It comprises four genes: Gnaq, Gna11, Gna14, and Gna15. In mice and humans, the alpha subunit is an essential component of G protein interaction with receptors and effectors. We report here the cloning and characterization of porcine Gnaq, Gna11, and Gna14. We have cloned the full-length coding sequences of porcine Gnaq, Gna11, and Gna14 (1,080, 1,080, and 1,068 bp, respectively) and then mapped them chromosomally to regions 1q21-27, 2q21-24, and 1q21-27 by radiation hybrid mapping...
August 2008: Biochemical Genetics
https://www.readbyqxmd.com/read/16060937/familial-temporal-lobe-epilepsy-as-a-presenting-feature-of-choreoacanthocytosis
#16
COMPARATIVE STUDY
Abdullah Al-Asmi, An C Jansen, AmanPreet Badhwar, François Dubeau, Donatella Tampieri, Chaim Shustik, Suha Mercho, Ghislaine Savard, Carol Dobson-Stone, Anthony P Monaco, Frederick Andermann, Eva Andermann
PURPOSE: Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis. Seizures are not uncommon in ChAc but have not been well characterized in the literature. We report two ChAc families in which patients presented with temporal lobe epilepsy. METHODS: Detailed medical and family histories were obtained. EEG, video-telemetry, brain magnetic resonance imaging (MRI) with volumetric studies of amygdala and hippocampus, as well as neuropsychological testing were performed...
August 2005: Epilepsia
https://www.readbyqxmd.com/read/15918062/identification-of-a-vps13a-founder-mutation-in-french-canadian-families-with-chorea-acanthocytosis
#17
Carol Dobson-Stone, Antonio Velayos-Baeza, An Jansen, Frederick Andermann, François Dubeau, Francine Robert, Anne Summers, Anthony E Lang, Sylvain Chouinard, Adrian Danek, Eva Andermann, Anthony P Monaco
Mutations in VPS13A cause chorea-acanthocytosis (ChAc), an autosomal recessive neurodegenerative disorder. VPS13A is located in a tail-to-tail arrangement with GNA14 on chromosome 9q21. ChAc shows substantial allelic heterogeneity, with no single VPS13A mutation causing the majority of cases. We examined 11 patients in four French Canadian ChAc pedigrees for mutations in VPS13A. Affected members of three families were homozygous for a 37-kb deletion of the four terminal exons of VPS13A (EX70_EX73del). This deletion also encompasses the two terminal exons of GNA14...
September 2005: Neurogenetics
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