AOC1 c.1933C>T ;(p.H645Y)

Variant ID: 7-150557665-C-T

NM_001091.3(AOC1):c.1933C>T;(p.H645Y)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain.

Biomedicines
Okutan, Gülşah G; Ruiz Casares, Eva E; Perucho Alcalde, Teresa T; Sánchez Niño, Guerthy Melissa GM; Penadés, Bruno F BF; Terrén Lora, Ana A; Torrente Estríngana, Lorena L; López Oliva, Sara S; San Mauro Martín, Ismael I
Publication Date: 2023-02-22

Variant appearance in text: rs1049793
PubMed Link: 36979637
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00660.pdf
View BVdb publication page



Diamine Oxidase Activity Deficit and Idiopathic Rhinitis: A New Subgroup of Non-Allergic Rhinitis?

Life (Basel, Switzerland)
Mayo-Yáñez, Miguel M; Díaz-Díaz, Andrea A; Calvo-Henríquez, Christian C; Lechien, Jerome R JR; Vaira, Luigi A LA; Figueroa, Angélica A
Publication Date: 2023-01-14

Variant appearance in text: rs1049793
PubMed Link: 36676189
Variant Present in the following documents:
  • Main text
  • life-13-00240.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: rs1049793
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Relationship between allergic rhinitis and diamine oxidase activity: A preliminary report.

Allergologie Select
Mayo-Yáñez, Miguel M; Díaz-Díaz, Andrea A; Vázquez-Barro, Juan C JC; Herranz González-Botas, Jesús J; Figueroa, Angélica A; Martín-Martín, Carlos S CS
Publication Date: 2021

Variant appearance in text: rs1049793
PubMed Link: 34235375
Variant Present in the following documents:
  • Main text
  • allergologieselect-5-187.pdf
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs1049793
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Histamine Intolerance in Children: A Narrative Review.

Nutrients
Nazar, Wojciech W; Plata-Nazar, Katarzyna K; Sznurkowska, Katarzyna K; Szlagatys-Sidorkiewicz, Agnieszka A
Publication Date: 2021-04-28

Variant appearance in text: rs1049793
PubMed Link: 33924863
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs1049793
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Histamine Intolerance: The Current State of the Art.

Biomolecules
Comas-Basté, Oriol O; Sánchez-Pérez, Sònia S; Veciana-Nogués, Maria Teresa MT; Latorre-Moratalla, Mariluz M; Vidal-Carou, María Del Carmen MDC
Publication Date: 2020-08-14

Variant appearance in text: rs1049793
PubMed Link: 32824107
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01181.pdf
View BVdb publication page



A Machine Learning-Based Identification of Genes Affecting the Pharmacokinetics of Tacrolimus Using the DMETTM Plus Platform.

International Journal Of Molecular Sciences
Gim, Jeong-An JA; Kwon, Yonghan Y; Lee, Hyun A HA; Lee, Kyeong-Ryoon KR; Kim, Soohyun S; Choi, Yoonjung Y; Kim, Yu Kyong YK; Lee, Howard H
Publication Date: 2020-04-04

Variant appearance in text: rs1049793
PubMed Link: 32260456
Variant Present in the following documents:
  • Main text
  • ijms-21-02517.pdf
View BVdb publication page



Exploiting loss of heterozygosity for allele-selective colorectal cancer chemotherapy.

Nature Communications
Rendo, Veronica V; Stoimenov, Ivaylo I; Mateus, André A; Sjöberg, Elin E; Svensson, Richard R; Gustavsson, Anna-Lena AL; Johansson, Lars L; Ng, Adrian A; OʼBrien, Casey C; Giannakis, Marios M; Artursson, Per P; Nygren, Peter P; Cheong, Ian I; Sjöblom, Tobias T
Publication Date: 2020-03-11

Variant appearance in text: rs1049793
PubMed Link: 32161261
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15111.pdf
  • 41467_2020_15111_MOESM1_ESM.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs1049793
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1049793
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Frontiers In Genetics
Klein, Kathrin K; Tremmel, Roman R; Winter, Stefan S; Fehr, Sarah S; Battke, Florian F; Scheurenbrand, Tim T; Schaeffeler, Elke E; Biskup, Saskia S; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2019

Variant appearance in text: rs1049793
PubMed Link: 30766545
Variant Present in the following documents:
  • Main text
  • fgene-10-00007.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: rs1049793
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1049793
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1049793
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic Variation in the Histamine Production, Response, and Degradation Pathway Is Associated with Histamine Pharmacodynamic Response in Children with Asthma.

Frontiers In Pharmacology
Jones, Bridgette L BL; Sherwin, Catherine M T CM; Liu, Xiaoxi X; Dai, Hongying H; Vyhlidal, Carrie A CA
Publication Date: 2016

Variant appearance in text: rs1049793
PubMed Link: 28101058
Variant Present in the following documents:
  • Main text
  • fphar-07-00524.pdf
View BVdb publication page



FCERI and Histamine Metabolism Gene Variability in Selective Responders to NSAIDS.

Frontiers In Pharmacology
Amo, Gemma G; Cornejo-García, José A JA; García-Menaya, Jesus M JM; Cordobes, Concepcion C; Torres, M J MJ; Esguevillas, Gara G; Mayorga, Cristobalina C; Martinez, Carmen C; Blanca-Lopez, Natalia N; Canto, Gabriela G; Ramos, Alfonso A; Blanca, Miguel M; Agúndez, José A G JA; García-Martín, Elena E
Publication Date: 2016

Variant appearance in text: rs1049793
PubMed Link: 27746735
Variant Present in the following documents:
  • Main text
  • fphar-07-00353.pdf
View BVdb publication page



DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine.

Oncotarget
Arbitrio, Mariamena M; Di Martino, Maria Teresa MT; Scionti, Francesca F; Agapito, Giuseppe G; Guzzi, Pietro Hiram PH; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P
Publication Date: 2016-08-16

Variant appearance in text: rs1049793
PubMed Link: 27304055
Variant Present in the following documents:
  • Main text
  • oncotarget-07-54028.pdf
View BVdb publication page



Associations of Polymorphisms in HRH2, HRH3, DAO, and HNMT Genes with Risk of Chronic Heart Failure.

Biomed Research International
He, Gong-Hao GH; Cai, Wen-Ke WK; Zhang, Jia-Bin JB; Ma, Chao-Yu CY; Yan, Feng F; Lu, Jun J; Xu, Gui-Li GL
Publication Date: 2016

Variant appearance in text: rs1049793
PubMed Link: 26989676
Variant Present in the following documents:
  • Main text
  • BMRI2016-1208476.pdf
View BVdb publication page



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: rs1049793
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1049793
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genetic Variation along the Histamine Pathway in Children with Allergic versus Nonallergic Asthma.

American Journal Of Respiratory Cell And Molecular Biology
Anvari, Sara S; Vyhlidal, Carrie A CA; Dai, Hongying H; Jones, Bridgette L BL
Publication Date: 2015-12

Variant appearance in text: rs1049793
PubMed Link: 25909280
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs1049793
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs1049793
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



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: rs1049793
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs1049793
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs1049793
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs1049793
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



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: rs1049793
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



The diamine oxidase gene is associated with hypersensitivity response to non-steroidal anti-inflammatory drugs.

Plos One
Agúndez, José A G JA; Ayuso, Pedro P; Cornejo-García, José A JA; Blanca, Miguel M; Torres, María J MJ; Doña, Inmaculada I; Salas, María M; Blanca-López, Natalia N; Canto, Gabriela G; Rondon, Carmen C; Campo, Paloma P; Laguna, José J JJ; Fernández, Javier J; Martínez, Carmen C; García-Martín, Elena E
Publication Date: 2012

Variant appearance in text: rs1049793
PubMed Link: 23152756
Variant Present in the following documents:
  • Main text
  • pone.0047571.pdf
View BVdb publication page



DMET-analyzer: automatic analysis of Affymetrix DMET data.

Bmc Bioinformatics
Guzzi, Pietro Hiram PH; Agapito, Giuseppe G; Di Martino, Maria Teresa MT; Arbitrio, Mariamena M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P; Cannataro, Mario M
Publication Date: 2012-10-05

Variant appearance in text: rs1049793
PubMed Link: 23035929
Variant Present in the following documents:
  • Main text
View BVdb publication page



Defining risk factors for red man syndrome in children and adults.

The Pediatric Infectious Disease Journal
Myers, Angela L AL; Gaedigk, Andrea A; Dai, Hongying H; James, Laura P LP; Jones, Bridgette L BL; Neville, Kathleen A KA
Publication Date: 2012-05

Variant appearance in text: rs1049793
PubMed Link: 22327873
Variant Present in the following documents:
  • Main text
View BVdb publication page



A peroxisome proliferator-activated receptor gamma (PPARG) polymorphism is associated with zoledronic acid-related osteonecrosis of the jaw in multiple myeloma patients: analysis by DMET microarray profiling.

British Journal Of Haematology
Di Martino, Maria T MT; Arbitrio, Mariamena M; Guzzi, Pietro H PH; Leone, Emanuela E; Baudi, Francesco F; Piro, Eugenio E; Prantera, Tullia T; Cucinotto, Iole I; Calimeri, Teresa T; Rossi, Marco M; Veltri, Pierangelo P; Cannataro, Mario M; Tagliaferri, Pierosandro P; Tassone, Pierfrancesco P
Publication Date: 2011-08

Variant appearance in text: rs1049793
PubMed Link: 21517810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of two histamine-metabolizing enzymes genes and childhood allergic asthma: a case control study.

Clinical And Molecular Allergy : Cma
Szczepankiewicz, Aleksandra A; Bręborowicz, Anna A; Sobkowiak, Paulina P; Popiel, Anna A
Publication Date: 2010-11-01

Variant appearance in text: rs1049793
PubMed Link: 21040557
Variant Present in the following documents:
  • Main text
  • 1476-7961-8-14.pdf
View BVdb publication page