Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: NOS1: I734I; rs2293054

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: NOS1: I734I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: NOS1: I734I; rs2293054

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: NOS1: I734I; rs2293054

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: NOS1: I734I; rs2293054

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Assessment of the Telomere Length and Its Effect on the Symptomatology of Parkinson's Disease.

Antioxidants (Basel, Switzerland)

Levstek, Tina T; Redenšek, Sara S; Trošt, Maja M; Dolžan, Vita V; Podkrajšek, Katarina Trebušak KT

Publication Date: 2021-01-19

Variant appearance in text: rs2293054

PubMed Link: 33478114

Variant Present in the following documents:

• Main text
• antioxidants-10-00137.pdf

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: NOS1: I734I; rs2293054

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

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: NOS1: I734I; rs2293054

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2293054

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Factors of Nitric Oxide's System in Psychoneurologic Disorders.

International Journal Of Molecular Sciences

Nasyrova, Regina F RF; Moskaleva, Polina V PV; Vaiman, Elena E EE; Shnayder, Natalya A NA; Blatt, Nataliya L NL; Rizvanov, Albert A AA

Publication Date: 2020-02-26

Variant appearance in text: rs2293054

PubMed Link: 32111088

Variant Present in the following documents:

• Main text
• ijms-21-01604.pdf

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: NOS1: I734I; rs2293054

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_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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Clinical-Pharmacogenetic Predictive Models for Time to Occurrence of Levodopa Related Motor Complications in Parkinson's Disease.

Frontiers In Genetics

Redenšek, Sara S; Jenko Bizjan, Barbara B; Trošt, Maja M; Dolžan, Vita V

Publication Date: 2019

Variant appearance in text: rs2293054

PubMed Link: 31156712

Variant Present in the following documents:

• Main text
• fgene-10-00461.pdf

View BVdb publication page

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Genetic variability of inflammation and oxidative stress genes does not play a major role in the occurrence of adverse events of dopaminergic treatment in Parkinson's disease.

Journal Of Neuroinflammation

Redenšek, Sara S; Flisar, Dušan D; Kojović, Maja M; Kramberger, Milica Gregorič MG; Georgiev, Dejan D; Pirtošek, Zvezdan Z; Trošt, Maja M; Dolžan, Vita V

Publication Date: 2019-02-27

Variant appearance in text: rs2293054

PubMed Link: 30813952

Variant Present in the following documents:

• Main text
• 12974_2019_Article_1439.pdf

View BVdb publication page

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Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study.

Bmc Medical Genomics

Yu, Ting T; Xia, Lei L; Bi, Dan D; Wang, Yangong Y; Shang, Qing Q; Zhu, Dengna D; Song, Juan J; Wang, Yong Y; Wang, Xiaoyang X; Zhu, Changlian C; Xing, Qinghe Q

Publication Date: 2018-06-25

Variant appearance in text: rs2293054

PubMed Link: 29940959

Variant Present in the following documents:

• Main text
• 12920_2018_Article_374.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: NOS1: I734I; rs2293054

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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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: rs2293054

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population.

Annals Of Rehabilitation Medicine

Yoo, Seung Don SD; Park, Jun Sang JS; Yun, Dong Hwan DH; Kim, Hee-Sang HS; Kim, Su Kang SK; Kim, Dong Hwan DH; Chon, Jinmann J; Je, Goun G; Kim, Yoon-Seong YS; Chung, Joo-Ho JH; Chung, Seung Joon SJ; Yeo, Jin Ah JA

Publication Date: 2016-02

Variant appearance in text: NOS1: Ile734Ile; rs2293054

PubMed Link: 26949676

Variant Present in the following documents:

• Main text
• arm-40-102.pdf

View BVdb publication page

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Role of nitric oxide and related molecules in schizophrenia pathogenesis: biochemical, genetic and clinical aspects.

Frontiers In Physiology

Nasyrova, Regina F RF; Ivashchenko, Dmitriy V DV; Ivanov, Mikhail V MV; Neznanov, Nikolay G NG

Publication Date: 2015

Variant appearance in text: rs2293054

PubMed Link: 26029110

Variant Present in the following documents:

• Main text
• fphys-06-00139.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: NOS1: I734I; rs2293054

PubMed Link: 25944692

Variant Present in the following documents:

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

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: NOS1: I734I

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: NOS1: I734I; rs2293054

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.

Birth Defects Research. Part B, Developmental And Reproductive Toxicology

Soldano, Karen L KL; Garrett, Melanie E ME; Cope, Heidi L HL; Rusnak, J Michael JM; Ellis, Nathen J NJ; Dunlap, Kaitlyn L KL; Speer, Marcy C MC; Gregory, Simon G SG; Ashley-Koch, Allison E AE

Publication Date: 2013-10

Variant appearance in text: rs2293054

PubMed Link: 24323870

Variant Present in the following documents:

• Main text

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: NOS1: I734I; rs2293054

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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Genetic association studies of antioxidant pathway genes and schizophrenia.

Antioxidants & Redox Signaling

Chowdari, Kodavali V KV; Bamne, Mikhil N MN; Nimgaonkar, Vishwajit L VL

Publication Date: 2011-10-01

Variant appearance in text: rs2293054

PubMed Link: 20673164

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Han, Xuesong X; Zheng, Tongzhang T; Lan, Qing Q; Zhang, Yaqun Y; Kilfoy, Briseis A BA; Qin, Qin Q; Rothman, Nathaniel N; Zahm, Shelia H SH; Holford, Theodore R TR; Leaderer, Brian B; Zhang, Yawei Y

Publication Date: 2009-05

Variant appearance in text: rs2293054

PubMed Link: 19423521

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease.

Neurogenetics

Hancock, Dana B DB; Martin, Eden R ER; Vance, Jeffery M JM; Scott, William K WK

Publication Date: 2008-10

Variant appearance in text: rs2293054

PubMed Link: 18663495

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics

Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ

Publication Date: 2007-07-02

Variant appearance in text: rs2293054

PubMed Link: 17601350

Variant Present in the following documents:

• Main text
• 1471-2156-8-43.pdf

View BVdb publication page

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