A SOXE transcription factor that plays a critical role in regulating CHONDROGENESIS; OSTEOGENESIS; and male sex determination. Loss of function of the SOX9 transcription factor due to genetic mutations is a cause of CAMPOMELIC DYSPLASIA.
Generated by gene2mesh v. 1.1.1
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Pulmonary function (interaction). The EFO term forced expiratory volume was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
DB Hancock, M Soler Artigas, SA Gharib, A Henry, A Manichaikul, A Ramasamy, DW Loth, M Imboden, B Koch, WL McArdle, AV Smith, J Smolonska, A Sood, W Tang, JB Wilk, G Zhai, JH Zhao, H Aschard, KM Burkart, I Curjuric, M Eijgelsheim, P Elliott, X Gu, TB Harris, C Janson, G Homuth, PG Hysi, JZ Liu, LR Loehr, K Lohman, RJ Loos, AK Manning, KD Marciante, M Obeidat, DS Postma, MC Aldrich, GG Brusselle, TH Chen, G Eiriksdottir, N Franceschini, J Heinrich, JI Rotter, C Wijmenga, OD Williams, AR Bentley, A Hofman, CC Laurie, T Lumley, AC Morrison, BR Joubert, F Rivadeneira, DJ Couper, SB Kritchevsky, Y Liu, M Wjst, LV Wain, JM Vonk, AG Uitterlinden, T Rochat, SS Rich, BM Psaty, GT O'Connor, KE North, DB Mirel, B Meibohm, LJ Launer, KT Khaw, AL Hartikainen, CJ Hammond, S Gläser, J Marchini, P Kraft, NJ Wareham, H Völzke, BH Stricker, TD Spector, NM Probst-Hensch, D Jarvis, MR Jarvelin, SR Heckbert, V Gudnason, HM Boezen, RG Barr, PA Cassano, DP Strachan, M Fornage, IP Hall, J Dupuis, MD Tobin, SJ London
Congenital malformation characterized by micrognathia, glossoptosis and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
Generated by gene2mesh v. 1.1.1
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Thyroid hormone levels. The EFO term thyroid stimulating hormone measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
E Porcu, M Medici, G Pistis, CB Volpato, SG Wilson, AR Cappola, SD Bos, J Deelen, M den Heijer, RM Freathy, J Lahti, C Liu, LM Lopez, IM Nolte, JR O'Connell, T Tanaka, S Trompet, A Arnold, S Bandinelli, M Beekman, S Böhringer, SJ Brown, BM Buckley, C Camaschella, AJ de Craen, G Davies, MC de Visser, I Ford, T Forsen, TM Frayling, L Fugazzola, M Gögele, AT Hattersley, AR Hermus, A Hofman, JJ Houwing-Duistermaat, RA Jensen, E Kajantie, M Kloppenburg, EM Lim, C Masciullo, S Mariotti, C Minelli, BD Mitchell, R Nagaraja, RT Netea-Maier, A Palotie, L Persani, MG Piras, BM Psaty, K Räikkönen, JB Richards, F Rivadeneira, C Sala, MM Sabra, N Sattar, BM Shields, N Soranzo, JM Starr, DJ Stott, FC Sweep, G Usala, MM van der Klauw, D van Heemst, A van Mullem, SH Vermeulen, WE Visser, JP Walsh, RG Westendorp, E Widen, G Zhai, F Cucca, IJ Deary, JG Eriksson, L Ferrucci, CS Fox, JW Jukema, LA Kiemeney, PP Pramstaller, D Schlessinger, AR Shuldiner, EP Slagboom, AG Uitterlinden, B Vaidya, TJ Visser, BH Wolffenbuttel, I Meulenbelt, JI Rotter, TD Spector, AA Hicks, D Toniolo, S Sanna, RP Peeters, S Naitza
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Adolescent idiopathic scoliosis (severe). The EFO term adolescent idiopathic scoliosis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
A Miyake, I Kou, Y Takahashi, TA Johnson, Y Ogura, J Dai, X Qiu, A Takahashi, H Jiang, H Yan, K Kono, N Kawakami, K Uno, M Ito, S Minami, H Yanagida, H Taneichi, N Hosono, T Tsuji, T Suzuki, H Sudo, T Kotani, I Yonezawa, M Kubo, T Tsunoda, K Watanabe, K Chiba, Y Toyama, Y Qiu, M Matsumoto, S Ikegawa
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Pulmonary function (interaction). The EFO term FEV/FEC ratio was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
DB Hancock, M Soler Artigas, SA Gharib, A Henry, A Manichaikul, A Ramasamy, DW Loth, M Imboden, B Koch, WL McArdle, AV Smith, J Smolonska, A Sood, W Tang, JB Wilk, G Zhai, JH Zhao, H Aschard, KM Burkart, I Curjuric, M Eijgelsheim, P Elliott, X Gu, TB Harris, C Janson, G Homuth, PG Hysi, JZ Liu, LR Loehr, K Lohman, RJ Loos, AK Manning, KD Marciante, M Obeidat, DS Postma, MC Aldrich, GG Brusselle, TH Chen, G Eiriksdottir, N Franceschini, J Heinrich, JI Rotter, C Wijmenga, OD Williams, AR Bentley, A Hofman, CC Laurie, T Lumley, AC Morrison, BR Joubert, F Rivadeneira, DJ Couper, SB Kritchevsky, Y Liu, M Wjst, LV Wain, JM Vonk, AG Uitterlinden, T Rochat, SS Rich, BM Psaty, GT O'Connor, KE North, DB Mirel, B Meibohm, LJ Launer, KT Khaw, AL Hartikainen, CJ Hammond, S Gläser, J Marchini, P Kraft, NJ Wareham, H Völzke, BH Stricker, TD Spector, NM Probst-Hensch, D Jarvis, MR Jarvelin, SR Heckbert, V Gudnason, HM Boezen, RG Barr, PA Cassano, DP Strachan, M Fornage, IP Hall, J Dupuis, MD Tobin, SJ London
Genes associated with Homo sapiens that interact with the MeSH term 'Silicon Dioxide' (D012822). Incorporates data from 9 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
QTL associated with ocular degeneration with sex reversal modifier 1. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (68060298)
Authors:
Poirier C, Qin Y, Adams CP, Anaya Y, Singer JB, Hill AE, Lander ES, Nadeau JH, Bishop CE
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Liver enzyme levels (gamma-glutamyl transferase). The EFO term serum gamma-glutamyl transferase measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
JC Chambers, W Zhang, J Sehmi, X Li, MN Wass, P Van der Harst, H Holm, S Sanna, M Kavousi, SE Baumeister, LJ Coin, G Deng, C Gieger, NL Heard-Costa, JJ Hottenga, B Kühnel, V Kumar, V Lagou, L Liang, J Luan, PM Vidal, I Mateo Leach, PF O'Reilly, JF Peden, N Rahmioglu, P Soininen, EK Speliotes, X Yuan, G Thorleifsson, BZ Alizadeh, LD Atwood, IB Borecki, MJ Brown, P Charoen, F Cucca, D Das, EJ de Geus, AL Dixon, A Döring, G Ehret, GI Eyjolfsson, M Farrall, NG Forouhi, N Friedrich, W Goessling, DF Gudbjartsson, TB Harris, AL Hartikainen, S Heath, GM Hirschfield, A Hofman, G Homuth, E Hyppönen, HL Janssen, T Johnson, AJ Kangas, IP Kema, JP Kühn, S Lai, M Lathrop, MM Lerch, Y Li, TJ Liang, JP Lin, RJ Loos, NG Martin, MF Moffatt, GW Montgomery, PB Munroe, K Musunuru, Y Nakamura, CJ O'Donnell, I Olafsson, BW Penninx, A Pouta, BP Prins, I Prokopenko, R Puls, A Ruokonen, MJ Savolainen, D Schlessinger, JN Schouten, U Seedorf, S Sen-Chowdhry, KA Siminovitch, JH Smit, TD Spector, W Tan, TM Teslovich, T Tukiainen, AG Uitterlinden, MM Van der Klauw, RS Vasan, C Wallace, H Wallaschofski, HE Wichmann, G Willemsen, P Würtz, C Xu, LM Yerges-Armstrong, GR Abecasis, KR Ahmadi, DI Boomsma, M Caulfield, WO Cookson, CM van Duijn, P Froguel, K Matsuda, MI McCarthy, C Meisinger, V Mooser, KH Pietiläinen, G Schumann, H Snieder, MJ Sternberg, RP Stolk, HC Thomas, U Thorsteinsdottir, M Uda, G Waeber, NJ Wareham, DM Waterworth, H Watkins, JB Whitfield, JC Witteman, BH Wolffenbuttel, CS Fox, M Ala-Korpela, K Stefansson, P Vollenweider, H Völzke, EE Schadt, J Scott, MR Järvelin, P Elliott, JS Kooner
The total transcriptome including genes that are differentially expressed in cocaine addicts compared to control subjects. Post-mortem brain samples were collected from the dorsolateral prefrontal cortex (dlPFC) of the cocaine addict group and the control group. To assess gene expression, RNA-seq was performed. Data taken from Supplementary Table 2. Values presented are k.diff values. Data available from GEO with accession number GSE99349."
Authors:
Efrain A Ribeiro, Joseph R Scarpa, Susanna P Garamszegi, Andrew Kasarskis, Deborah C Mash, Eric J Nestler
Data from GEO GSE194368 and analyzed using GEO2R, only top gene shown. Authors identified transcriptional adaptations of GR signaling in the amygdala of humans with OUD. Thus, GRs, their coregulators and downstream systems may represent viable therapeutic targets to treat the “stress side” of OUD.
Authors:
Stephanie A Carmack, Janaina C M Vendruscolo, M Adrienne McGinn, Jorge Miranda-Barrientos, Vez Repunte-Canonigo, Gabriel D Bosse, Daniele Mercatelli, Federico M Giorgi, Yu Fu, Anthony J Hinrich, Francine M Jodelka, Karen Ling, Robert O Messing, Randall T Peterson, Frank Rigo, Scott Edwards, Pietro P Sanna, Marisela Morales, Michelle L Hastings, George F Koob, Leandro F Vendruscolo
The dataset used in this study (Bulk RNA-Seq) was previously published and can be found at NCBI GEO (GSE182321), this analysis was conducted by GEO2R to compare control and OUD samples, only top differentially expressed genes are reported. To understand mechanisms and identify potential targets for intervention in the current crisis of opioid use disorder (OUD), postmortem brains represent an under-utilized resource. To refine previously reported gene signatures of neurobiological alterations in OUD from the dorsolateral prefrontal cortex (Brodmann Area 9, BA9), we explored the role of microRNAs (miRNA) as powerful epigenetic regulators of gene function.
Differential gene expression between CS14 and CS22 - Adj-P value
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS17, CS17 and CS22. Here the differential expression comparison between CS14 and CS22 is shown. Gene expressions values, Ensembl Gene ids and the corresponding Adjusted P value are presented. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Gene expression changes in the post-mortem nucleus accumbens of chronic heroin abusers. Overall, little overlap in gene expression profiles was seen between the two drug-abusing cohorts: out of the approximately 39,000 transcripts investigated, the abundance of only 25 was significantly changed in both cocaine and heroin abusers, with nearly one-half of these being altered in opposite directions. 1050 Transcripts had different in abundance between the majority of heroin subjects and their matched controls.
Cerebellum Gene Expression Correlates for AMDIST135 measured in BXD RI Females & Males obtained using SJUT Cerebellum mRNA M430 (Mar05) RMA. The AMDIST135 measures Morphine distance (cm) travelled minutes 120-135 under the domain Morphine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for NEPCOUNT15 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The NEPCOUNT15 measures Novel environment vertical activity counts minutes 0-15 under the domain Morphine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for NEPCOUNT15 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The NEPCOUNT15 measures Novel environment vertical activity counts minutes 0-15 under the domain Morphine. The correlates were thresholded at a p-value of less than 0.001.
Whole Brain Gene Expression Correlates for NEPDIST15 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The NEPDIST15 measures Novel environment distance (cm) travelled minutes 0-15 under the domain Morphine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for NEPDIST15 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The NEPDIST15 measures Novel environment distance (cm) travelled minutes 0-15 under the domain Morphine. The correlates were thresholded at a p-value of less than 0.001.
Whole Brain Gene Expression Correlates for OF_DIST_5_10 measured in BXD RI Females obtained using INIA Brain mRNA M430 (Jun06) RMA. The OF_DIST_5_10 measures Open Field - Total distance traveled 5-10 minutes under the domain Basal Behavior. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for OF_DIST_5_10 measured in BXD RI Females obtained using INIA Brain mRNA M430 (Jun06) RMA. The OF_DIST_5_10 measures Open Field - Total distance traveled 5-10 minutes under the domain Basal Behavior. The correlates were thresholded at a p-value of less than 0.001.
Whole Brain Gene Expression Correlates for PNOVEL_ACOUNT_1 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The PNOVEL_ACOUNT_1 measures Novel Open Field - TOTAL locomotion (activity beam breaks) in the periphery under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for SHCOUNT15 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The SHCOUNT15 measures Open Field - locomotion (activity beam breaks) 0-15 min under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
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