Publications:

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Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Frontiers In Neurology

Bar, Omri O; Ebenau, Laurie L; Weiner, Kellee K; Mintz, Mark M; Boles, Richard G RG

Publication Date: 2023

Variant appearance in text: OPRM1: Ser147Cys

PubMed Link: 37234784

Variant Present in the following documents:

• Main text

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Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Frontiers In Pharmacology

Parada-Márquez, Juan Fernando JF; Maldonado-Rodriguez, Nicolás David ND; Triana-Fonseca, Paula P; Contreras-Bravo, Nora Constanza NC; Calderón-Ospina, Carlos Alberto CA; Restrepo, Carlos M CM; Morel, Adrien A; Ortega-Recalde, Oscar Javier OJ; Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2023

Variant appearance in text: rs17174794

PubMed Link: 37021041

Variant Present in the following documents:

• Table2.xlsx, sheet 1

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: OPRM1: 440C>G; Ser147Cys

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

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Functional expression of opioid receptors and other human GPCRs in yeast engineered to produce human sterols.

Nature Communications

Bean, Björn D M BDM; Mulvihill, Colleen J CJ; Garge, Riddhiman K RK; Boutz, Daniel R DR; Rousseau, Olivier O; Floyd, Brendan M BM; Cheney, William W; Gardner, Elizabeth C EC; Ellington, Andrew D AD; Marcotte, Edward M EM; Gollihar, Jimmy D JD; Whiteway, Malcolm M; Martin, Vincent J J VJJ

Publication Date: 2022-05-24

Variant appearance in text: OPRM1: S147C

PubMed Link: 35610225

Variant Present in the following documents:

• 41467_2022_Article_30570.pdf

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Frequency of the Dopamine Receptor D3 (rs6280) vs. Opioid Receptor µ1 (rs1799971) Polymorphic Risk Alleles in Patients with Opioid Use Disorder: A Preponderance of Dopaminergic Mechanisms?

Biomedicines

Gondré-Lewis, Marjorie C MC; Elman, Igor I; Alim, Tanya T; Chapman, Edwin E; Settles-Reaves, Beverlyn B; Galvao, Carine C; Gold, Mark S MS; Baron, David D; Kazmi, Shan S; Gardner, Eliot E; Gupta, Ashim A; Dennen, Catherine C; Blum, Kenneth K

Publication Date: 2022-04-07

Variant appearance in text: rs17174794

PubMed Link: 35453620

Variant Present in the following documents:

• Main text
• biomedicines-10-00870.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: OPRM1: S147C; rs17174794

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: rs17174794

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 11

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Neuropharmacological and Neurogenetic Correlates of Opioid Use Disorder (OUD) As a Function of Ethnicity: Relevance to Precision Addiction Medicine.

Current Neuropharmacology

Abijo, Tomilowo T; Blum, Kenneth K; Gondré-Lewis, Marjorie C MC

Publication Date: 2020

Variant appearance in text: rs17174794

PubMed Link: 31744450

Variant Present in the following documents:

• Main text
• CN-18-578.pdf

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: OPRM1: S147C; rs17174794

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Implication of OPRM1 A118G Polymorphism in Opioids Addicts in Pakistan: In vitro and In silico Analysis.

Journal Of Molecular Neuroscience : Mn

Ahmed, Madiha M; Ul Haq, Ihsan I; Faisal, Muhammad M; Waseem, Durdana D; Taqi, Malik Mumtaz MM

Publication Date: 2018-08

Variant appearance in text: OPRM1: Ser147Cys

PubMed Link: 30033503

Variant Present in the following documents:

• Main text
• 12031_2018_Article_1123.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs17174794

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Convergent Balancing Selection on the Mu-Opioid Receptor in Primates.

Molecular Biology And Evolution

Sweeney, Carolyn G CG; Rando, Juliette M JM; Panas, Helen N HN; Miller, Gregory M GM; Platt, Donna M DM; Vallender, Eric J EJ

Publication Date: 2017-07-01

Variant appearance in text: rs17174794

PubMed Link: 28333316

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: OPRM1: 440C>G; Ser147Cys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: OPRM1: S147C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Emergent biomarker derived from next-generation sequencing to identify pain patients requiring uncommonly high opioid doses.

The Pharmacogenomics Journal

Kringel, D D; Ultsch, A A; Zimmermann, M M; Jansen, J-P JP; Ilias, W W; Freynhagen, R R; Griessinger, N N; Kopf, A A; Stein, C C; Doehring, A A; Resch, E E; Lötsch, J J

Publication Date: 2017-10

Variant appearance in text: OPRM1: Ser147Cys; rs17174794

PubMed Link: 27139154

Variant Present in the following documents:

• Main text
• tpj201628a.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs17174794

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: OPRM1: S147C; rs17174794

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

View BVdb publication page

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Human population genetic structure detected by pain-related mu opioid receptor gene polymorphisms.

Genetics And Molecular Biology

López Soto, Eduardo Javier EJ; Catanesi, Cecilia Inés CI

Publication Date: 2015-05

Variant appearance in text: OPRM1: S147C; rs17174794

PubMed Link: 26273217

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-38-2-152.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: OPRM1: S147C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: OPRM1: S147C; rs17174794

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Cellular signalling of non-synonymous single-nucleotide polymorphisms of the human μ-opioid receptor (OPRM1).

British Journal Of Pharmacology

Knapman, Alisa A; Connor, Mark M

Publication Date: 2015-01

Variant appearance in text: OPRM1: S147C

PubMed Link: 24527749

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs17174794

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Low frequency genetic variants in the μ-opioid receptor (OPRM1) affect risk for addiction to heroin and cocaine.

Neuroscience Letters

Clarke, Toni-Kim TK; Crist, Richard C RC; Kampman, Kyle M KM; Dackis, Charles A CA; Pettinati, Helen M HM; O'Brien, Charles P CP; Oslin, David W DW; Ferraro, Thomas N TN; Lohoff, Falk W FW; Berrettini, Wade H WH

Publication Date: 2013-05-10

Variant appearance in text: OPRM1: S147C; rs17174794

PubMed Link: 23454283

Variant Present in the following documents:

• Main text

View BVdb publication page

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OPRM1 SNP (A118G): involvement in disease development, treatment response, and animal models.

Drug And Alcohol Dependence

Mague, Stephen D SD; Blendy, Julie A JA

Publication Date: 2010-05-01

Variant appearance in text: OPRM1: S147C

PubMed Link: 20074870

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characterization of human variants of the mu-opioid receptor gene.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ravindranathan, Ajay A; Joslyn, Geoff G; Robertson, Margaret M; Schuckit, Marc A MA; Whistler, Jennifer L JL; White, Raymond L RL

Publication Date: 2009-06-30

Variant appearance in text: MOR1: S147C

PubMed Link: 19528663

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between two mu-opioid receptor gene (OPRM1) haplotype blocks and drug or alcohol dependence.

Human Molecular Genetics

Zhang, Huiping H; Luo, Xingguang X; Kranzler, Henry R HR; Lappalainen, Jaakko J; Yang, Bao-Zhu BZ; Krupitsky, Evgeny E; Zvartau, Edwin E; Gelernter, Joel J

Publication Date: 2006-03-15

Variant appearance in text: OPRM1: Ser147Cys

PubMed Link: 16476706

Variant Present in the following documents:

• Main text

View BVdb publication page

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