Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs6474

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs6474

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: CYP21A2: R103K

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs6474

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: CYP21A2: R103K; rs6474

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: CYP21A2: R103K

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.

International Journal Of Molecular Sciences

Prado, Mayara J MJ; Singh, Shripriya S; Ligabue-Braun, Rodrigo R; Meneghetti, Bruna V BV; Rispoli, Thaiane T; Kopacek, Cristiane C; Monteiro, Karina K; Zaha, Arnaldo A; Rossetti, Maria L R MLR; Pandey, Amit V AV

Publication Date: 2021-12-28

Variant appearance in text: CYP21A2: R103K; rs6474

PubMed Link: 35008721

Variant Present in the following documents:

• Main text
• ijms-23-00296.pdf

View BVdb publication page

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Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.

International Journal Of Molecular Sciences

Prado, Mayara J MJ; Singh, Shripriya S; Ligabue-Braun, Rodrigo R; Meneghetti, Bruna V BV; Rispoli, Thaiane T; Kopacek, Cristiane C; Monteiro, Karina K; Zaha, Arnaldo A; Rossetti, Maria L R MLR; Pandey, Amit V AV

Publication Date: 2021-12-28

Variant appearance in text: CYP21A2: R103K; rs6474

PubMed Link: 35008721

Variant Present in the following documents:

• Main text
• ijms-23-00296.pdf

View BVdb publication page

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The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China.

Clinical, Cosmetic And Investigational Dermatology

Yang, Ting T; Wu, Wen-Juan WJ; Tian, Li-Ming LM; Zhang, Deng-Feng DF; Yang, Xiao-Yan XY; Qi, Jue J; Tu, Ying Y; He, Li L

Publication Date: 2021

Variant appearance in text: rs6474

PubMed Link: 33824600

Variant Present in the following documents:

• Main text
• ccid-14-313.pdf

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: CYP21A2: 308G>A; R103K; rs6474

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: CYP21A2: 308G>A; Arg103Lys

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg

Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W

Publication Date: 2020-10

Variant appearance in text: CYP21A2: 308G>A; Arg103Lys; rs6474

PubMed Link: 32616876

Variant Present in the following documents:

• Main text
• 41431_2020_Article_653.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CYP21A2: R103K

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CYP21A2: 308G>A; Arg103Lys; rs6474

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, 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: CYP21A2: R103K

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports

Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD

Publication Date: 2019-03-12

Variant appearance in text: CYP21A2: R103K

PubMed Link: 30862934

Variant Present in the following documents:

• 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Molecular Genetics & Genomic Medicine

Sproll, Patrick P; Eid, Wassim W; Gomes, Camila R CR; Mendonca, Berenice B BB; Gomes, Nathalia L NL; Costa, Elaine M-F EM; Biason-Lauber, Anna A

Publication Date: 2018-09

Variant appearance in text: CYP21A2: R103K

PubMed Link: 29998616

Variant Present in the following documents:

• Main text
• MGG3-6-785.pdf

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: CYP21A2: 308G>A; R103K; rs6474

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget

Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S

Publication Date: 2017-09-26

Variant appearance in text: CYP21A2: R103K

PubMed Link: 29088767

Variant Present in the following documents:

• oncotarget-08-74049-s002.xlsx, sheet 6

View BVdb publication page

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Steroid hormone profiling in obese and nonobese women with polycystic ovary syndrome.

Scientific Reports

Deng, Yuying Y; Zhang, Yifei Y; Li, Shengxian S; Zhou, Wenzhong W; Ye, Lei L; Wang, Lihua L; Tao, Tao T; Gu, Junjie J; Yang, Zuwei Z; Zhao, Dandan D; Gu, Weiqiong W; Hong, Jie J; Ning, Guang G; Liu, Wei W; Wang, Weiqing W

Publication Date: 2017-10-26

Variant appearance in text: CYP21A2: 308G>A

PubMed Link: 29074860

Variant Present in the following documents:

• 41598_2017_14534_MOESM1_ESM.pdf

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: CYP21A2: R103K; rs6474

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: CYP21A2: R103K

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Chinese Journal Of Cancer

Disciglio, Vittoria V; Devecchi, Andrea A; Palumbo, Orazio O; Carella, Massimo M; Penso, Donata D; Milione, Massimo M; Valle, Giorgio G; Pierotti, Marco Alessandro MA; Vitellaro, Marco M; Bertario, Lucio L; Canevari, Silvana S; Signoroni, Stefano S; De Cecco, Loris L

Publication Date: 2016-06-07

Variant appearance in text: CYP21A2: R103K

PubMed Link: 27267075

Variant Present in the following documents:

• 40880_2016_115_MOESM5_ESM.xlsx, sheet 1

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: rs6474

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1
• srep09124-s3.xls, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: CYP21A2: R103K

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

View BVdb publication page

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Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One

Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S

Publication Date: 2013

Variant appearance in text: CYP21A2: R103K

PubMed Link: 24340040

Variant Present in the following documents:

• pone.0082562.s002.xlsx, sheet 1

View BVdb publication page

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Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.

Plos One

Szabó, Julianna Anna JA; Szilágyi, Ágnes Á; Doleschall, Zoltán Z; Patócs, Attila A; Farkas, Henriette H; Prohászka, Zoltán Z; Rácz, Kárioly K; Füst, George G; Doleschall, Márton M

Publication Date: 2013

Variant appearance in text: rs6474

PubMed Link: 24312389

Variant Present in the following documents:

• Main text
• pone.0081977.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: rs6474

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

Human Molecular Genetics

Weidinger, Stephan S; Willis-Owen, Saffron A G SA; Kamatani, Yoichiro Y; Baurecht, Hansjörg H; Morar, Nilesh N; Liang, Liming L; Edser, Pauline P; Street, Teresa T; Rodriguez, Elke E; O'Regan, Grainne M GM; Beattie, Paula P; Fölster-Holst, Regina R; Franke, Andre A; Novak, Natalija N; Fahy, Caoimhe M CM; Winge, Mårten C G MC; Kabesch, Michael M; Illig, Thomas T; Heath, Simon S; Söderhäll, Cilla C; Melén, Erik E; Pershagen, Göran G; Kere, Juha J; Bradley, Maria M; Lieden, Agne A; Nordenskjold, Magnus M; Harper, John I JI; McLean, W H Irwin WH; Brown, Sara J SJ; Cookson, William O C WO; Lathrop, G Mark GM; Irvine, Alan D AD; Moffatt, Miriam F MF

Publication Date: 2013-12-01

Variant appearance in text: rs6474

PubMed Link: 23886662

Variant Present in the following documents:

• Main text
• ddt317.pdf

View BVdb publication page

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Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma.

American Journal Of Hematology

Li, Yonghong Y; Zheng, Tongzhang T; Kilfoy, Briseis A BA; Lan, Qing Q; Holford, Theodore T; Han, Xuesong X; Zhao, Ping P; Dai, Min M; Leaderer, Brian B; Rothman, Nat N; Zhang, Yawei Y

Publication Date: 2010-03

Variant appearance in text: rs6474

PubMed Link: 20131310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival.

American Journal Of Hematology

Han, Xuesong X; Zheng, Tongzhang T; Foss, Francine M FM; Lan, Qing Q; Holford, Theodore R TR; Rothman, Nathaniel N; Ma, Shuangge S; Zhang, Yawei Y

Publication Date: 2010-01

Variant appearance in text: rs6474

PubMed Link: 20029944

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.

American Journal Of Human Genetics

Roach, Jared C JC; Deutsch, Kerry K; Li, Sarah S; Siegel, Andrew F AF; Bekris, Lynn M LM; Einhaus, Derek C DC; Sheridan, Colleen M CM; Glusman, Gustavo G; Hood, Leroy L; Lernmark, Ake A; Janer, Marta M; , ; ,

Publication Date: 2006-10

Variant appearance in text: rs6474

PubMed Link: 16960798

Variant Present in the following documents:

• Main text

View BVdb publication page

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