Publications:

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Biochemical Properties and Physiological Functions of pLG72: Twenty Years of Investigations.

Biomolecules

Murtas, Giulia G; Pollegioni, Loredano L; Molla, Gianluca G; Sacchi, Silvia S

Publication Date: 2022-06-20

Variant appearance in text: G72: R30K; rs2391191

PubMed Link: 35740983

Variant Present in the following documents:

• Main text
• biomolecules-12-00858.pdf

View BVdb publication page

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d-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia.

International Journal Of Molecular Sciences

Cheng, Yu-Jung YJ; Lin, Chieh-Hsin CH; Lane, Hsien-Yuan HY

Publication Date: 2021-10-09

Variant appearance in text: G72: R30K; rs2391191

PubMed Link: 34681579

Variant Present in the following documents:

• Main text
• ijms-22-10917.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: DAOA: R30K; rs2391191

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: DAOA: R30K; rs2391191

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: DAOA: Arg30Lys; rs2391191

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: DAOA: 89G>A; R30K; rs2391191

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

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: DAOA: 89G>A; Arg30Lys

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: DAOA: R30K; rs2391191

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: DAOA: R30K; rs2391191

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: DAOA: R30K; rs2391191

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 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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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: DAOA: 89G>A; Arg30Lys; rs2391191

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

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Human D-Amino Acid Oxidase: Structure, Function, and Regulation.

Frontiers In Molecular Biosciences

Pollegioni, Loredano L; Sacchi, Silvia S; Murtas, Giulia G

Publication Date: 2018

Variant appearance in text: G72: R30K

PubMed Link: 30547037

Variant Present in the following documents:

• fmolb-05-00107.pdf

View BVdb publication page

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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: DAOA: R30K; rs2391191

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: DAOA: 89G>A; Arg30Lys; rs2391191

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: DAOA: 89G>A; R30K; rs2391191

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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D-Amino Acid Oxidase-pLG72 Interaction and D-Serine Modulation.

Frontiers In Molecular Biosciences

Pollegioni, Loredano L; Piubelli, Luciano L; Molla, Gianluca G; Rosini, Elena E

Publication Date: 2018

Variant appearance in text: G72: Arg30Lys; rs2391191

PubMed Link: 29417050

Variant Present in the following documents:

• Main text
• fmolb-05-00003.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: DAOA: R30K; rs2391191

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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The association between gene variants and longitudinal structural brain changes in psychosis: a systematic review of longitudinal neuroimaging genetics studies.

Npj Schizophrenia

Harari, Julia H JH; Díaz-Caneja, Covadonga M CM; Janssen, Joost J; Martínez, Kenia K; Arias, Bárbara B; Arango, Celso C

Publication Date: 2017-11-01

Variant appearance in text: G72: Arg30Lys; rs2391191

PubMed Link: 29093492

Variant Present in the following documents:

• Main text
• 41537_2017_Article_36.pdf

View BVdb publication page

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A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease.

Neural Plasticity

Vélez, Jorge I JI; Rivera, Dora D; Mastronardi, Claudio A CA; Patel, Hardip R HR; Tobón, Carlos C; Villegas, Andrés A; Cai, Yeping Y; Easteal, Simon S; Lopera, Francisco F; Arcos-Burgos, Mauricio M

Publication Date: 2016

Variant appearance in text: DAOA: Arg30Lys; rs2391191

PubMed Link: 26949549

Variant Present in the following documents:

• Main text
• NP2016-9760314.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: DAOA: R30K; rs2391191

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Identification of pLG72-Induced Oxidative Stress Using Systemic Approaches.

Biomed Research International

Wang, Maofeng M; Chen, Hsi-Ju HJ; Zhang, Jun J; Li, Weimin W; Xie, Xinyou X; Chang, Hao-Teng HT

Publication Date: 2015

Variant appearance in text: DAOA: ARG30LYS; rs2391191

PubMed Link: 26539492

Variant Present in the following documents:

• Main text
• BMRI2015-429253.pdf

View BVdb publication page

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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: DAOA: R30K; rs2391191

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: DAOA: R30K; rs2391191

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: DAOA: R30K

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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: DAOA: R30K; rs2391191

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Effects of the neurogranin variant rs12807809 on thalamocortical morphology in schizophrenia.

Plos One

Thong, Jamie Yu Jin JY; Qiu, Anqi A; Sum, Min Yi MY; Kuswanto, Carissa Nadia CN; Tuan, Ta Ahn TA; Donohoe, Gary G; Sitoh, Yih Yian YY; Sim, Kang K

Publication Date: 2013

Variant appearance in text: DAOA: Arg30Lys; rs2391191

PubMed Link: 24386483

Variant Present in the following documents:

• Main text
• pone.0085603.pdf

View BVdb publication page

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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: DAOA: R30K; rs2391191

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Structural, phylogenetic and docking studies of D-amino acid oxidase activator (DAOA), a candidate schizophrenia gene.

Theoretical Biology & Medical Modelling

Sehgal, Sheikh Arslan SA; Khattak, Naureen Aslam NA; Mir, Asif A

Publication Date: 2013-01-04

Variant appearance in text: DAOA: Arg30Lys

PubMed Link: 23286827

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular evidence of N-methyl-D-aspartate receptor hypofunction in schizophrenia.

Molecular Psychiatry

Weickert, C S CS; Fung, S J SJ; Catts, V S VS; Schofield, P R PR; Allen, K M KM; Moore, L T LT; Newell, K A KA; Pellen, D D; Huang, X-F XF; Catts, S V SV; Weickert, T W TW

Publication Date: 2013-11

Variant appearance in text: DAOA: Arg30Lys

PubMed Link: 23070074

Variant Present in the following documents:

• mp2012137a.pdf

View BVdb publication page

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Reduced cortical thickness is associated with the glutamatergic regulatory gene risk variant DAOA Arg30Lys in schizophrenia.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Schultz, C Christoph CC; Nenadic, Igor I; Koch, Kathrin K; Wagner, Gerd G; Roebel, Martin M; Schachtzabel, Claudia C; Mühleisen, Thomas W TW; Nöthen, Markus M MM; Cichon, Sven S; Deufel, Thomas T; Kiehntopf, Michael M; Rietschel, Marcella M; Reichenbach, Jürgen R JR; Sauer, Heinrich H; Schlösser, Ralf G M RG

Publication Date: 2011-07

Variant appearance in text: DAOA: Arg30Lys; rs2391191

PubMed Link: 21508934

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample.

Biological Psychiatry

Soronen, Pia P; Silander, Kaisa K; Antila, Mervi M; Palo, Outi M OM; Tuulio-Henriksson, Annamari A; Kieseppä, Tuula T; Ellonen, Pekka P; Wedenoja, Juho J; Turunen, Joni A JA; Pietiläinen, Olli P H OP; Hennah, William W; Lönnqvist, Jouko J; Peltonen, Leena L; Partonen, Timo T; Paunio, Tiina T

Publication Date: 2008-09-01

Variant appearance in text: DAOA: Arg30Lys; rs2391191

PubMed Link: 18466879

Variant Present in the following documents:

• Main text

View BVdb publication page

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