Publications:

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: DTNBP1: P272S; rs17470454

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1
• noac171_suppl_suplementary_table_s1.xlsx, sheet 1

View BVdb publication page

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Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies.

Frontiers In Pharmacology

Tsermpini, Evangelia Eirini EE; Redenšek, Sara S; Dolžan, Vita V

Publication Date: 2021

Variant appearance in text: rs17470454

PubMed Link: 35140610

Variant Present in the following documents:

• Main text
• fphar-12-834129.pdf

View BVdb publication page

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Molecular features and vulnerabilities of recurrent chordomas.

Journal Of Experimental & Clinical Cancer Research : Cr

Seeling, Carolin C; Lechel, André A; Svinarenko, Michael M; Möller, Peter P; Barth, Thomas F E TFE; Mellert, Kevin K

Publication Date: 2021-07-30

Variant appearance in text: DTNBP1: P272S; rs17470454

PubMed Link: 34330313

Variant Present in the following documents:

• 13046_2021_2037_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Hermansky-Pudlak syndrome: Mutation update.

Human Mutation

Huizing, Marjan M; Malicdan, May C V MCV; Wang, Jennifer A JA; Pri-Chen, Hadass H; Hess, Richard A RA; Fischer, Roxanne R; O'Brien, Kevin J KJ; Merideth, Melissa A MA; Gahl, William A WA; Gochuico, Bernadette R BR

Publication Date: 2020-03

Variant appearance in text: DTNBP1: 814C>T

PubMed Link: 31898847

Variant Present in the following documents:

• Main text

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: DTNBP1: P272S; rs17470454

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: DTNBP1: 814C>T; Pro272Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: DTNBP1: P272S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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: DTNBP1: P272S; rs17470454

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DTNBP1: 814C>T; Pro272Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: Dysbindin: P272S; rs17470454

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Hierarchical Classes Analysis (HICLAS): A novel data reduction method to examine associations between biallelic SNPs and perceptual organization phenotypes in schizophrenia.

Schizophrenia Research. Cognition

Joseph, Jamie J; Gara, Michael A MA; Silverstein, Steven M SM

Publication Date: 2015-06-01

Variant appearance in text: rs17470454

PubMed Link: 26346124

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs17470454

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10

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: DTNBP1: P272S; rs17470454

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: DTNBP1: P272S; rs17470454

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: DTNBP1: P272S; rs17470454

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Genomics and pharmacogenomics of schizophrenia.

Cns Neuroscience & Therapeutics

Cacabelos, Ramón R; Martínez-Bouza, Rocío R

Publication Date: 2011-10

Variant appearance in text: rs17470454

PubMed Link: 20718829

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry.

Schizophrenia Research

Strohmaier, Jana J; Frank, Josef J; Wendland, Jens R JR; Schumacher, Johannes J; Jamra, Rami Abou RA; Treutlein, Jens J; Nieratschker, Vanessa V; Breuer, René R; Mattheisen, Manuel M; Herms, Stefan S; Mühleisen, Thomas W TW; Maier, Wolfgang W; Nöthen, Markus M MM; Cichon, Sven S; Rietschel, Marcella M; Schulze, Thomas G TG

Publication Date: 2010-05

Variant appearance in text: rs17470454

PubMed Link: 20083391

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics

Mengel-From, Jonas J; Wong, Terence H TH; Morling, Niels N; Rees, Jonathan L JL; Jackson, Ian J IJ

Publication Date: 2009-12-30

Variant appearance in text: rs17470454

PubMed Link: 20042077

Variant Present in the following documents:

• Main text
• 1471-2156-10-88.pdf

View BVdb publication page

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The dystrobrevin-binding protein 1 gene: features and networks.

Molecular Psychiatry

Guo, A Y AY; Sun, J J; Riley, B P BP; Thiselton, D L DL; Kendler, K S KS; Zhao, Z Z

Publication Date: 2009-01

Variant appearance in text: DTNBP1: P272S; rs17470454

PubMed Link: 18663367

Variant Present in the following documents:

• Main text

View BVdb publication page

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DTNBP1 (Dystrobrevin binding protein 1) and schizophrenia: association evidence in the 3' end of the gene.

Human Heredity

Duan, Jubao J; Martinez, Maria M; Sanders, Alan R AR; Hou, Cuiping C; Burrell, Gregory J GJ; Krasner, Aaron J AJ; Schwartz, Daniel B DB; Gejman, Pablo V PV

Publication Date: 2007

Variant appearance in text: DTNBP1: Pro272Ser; rs17470454

PubMed Link: 17476109

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia.

American Journal Of Human Genetics

Mutsuddi, Mousumi M; Morris, Derek W DW; Waggoner, Skye G SG; Daly, Mark J MJ; Scolnick, Edward M EM; Sklar, Pamela P

Publication Date: 2006-11

Variant appearance in text: rs17470454

PubMed Link: 17033966

Variant Present in the following documents:

• Main text

View BVdb publication page

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