Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: CYP1B1: R48G

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.

Pakistan Journal Of Medical Sciences

Zahid, Tazeen T; Khan, Muhammad Umer MU; Zulfiqar, Aymn A; Jawad, Fatima F; Saleem, Anosh A; Khan, Ahmad Raza AR

Publication Date: 2023

Variant appearance in text: CYP1B1: 142C>G; R48G

PubMed Link: 36950438

Variant Present in the following documents:

• Main text
• PJMS-39-409.pdf

View BVdb publication page

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Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Peerj

Shahid, Muhammad M; Azfaralariff, Ahmad A; Tufail, Muhammad M; Hussain Khan, Nazeer N; Abdulkareem Najm, Ahmed A; Firasat, Sabika S; Zubair, Muhammad M; Fazry, Shazrul S; Law, Douglas D

Publication Date: 2022

Variant appearance in text: CYP1B1: R48G

PubMed Link: 36518267

Variant Present in the following documents:

• peerj-10-14132-s002.xlsx, sheet 1
• peerj-10-14132-s001.xlsx, sheet 3
• peerj-10-14132-s001.xlsx, sheet 7
• peerj-10-14132-s001.xlsx, sheet 2

View BVdb publication page

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Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: CYP1B1: 142C>G; Arg48Gly; rs10012

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1
• 12920_2022_1372_MOESM2_ESM.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: CYP1B1: R48G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.

Plos One

Tehreem, Raeesa R; Arooj, Anam A; Siddiqui, Sorath Noorani SN; Naz, Shagufta S; Afshan, Kiran K; Firasat, Sabika S

Publication Date: 2022

Variant appearance in text: CYP1B1: 142C>G; Arg48Gly; rs10012

PubMed Link: 36083974

Variant Present in the following documents:

• Main text
• pone.0274335.pdf

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: CYP1B1: R48G

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

View BVdb publication page

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Effects of gene polymorphisms of CYP1A1, CYP1B1, EPHX1, NQO1, and NAT2 on urinary 1-nitropyrene metabolite concentrations.

Heliyon

Yun, Jung-Kuk JK; Ochirpurev, Bolormaa B; Eom, Sang-Yong SY; Toriba, Akira A; Kim, Yong-Dae YD; Kim, Heon H

Publication Date: 2022-08

Variant appearance in text: rs10012

PubMed Link: 36033337

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: CYP1B1: R48G

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
• noac171_suppl_suplementary_table_ss9.xls, sheet 1

View BVdb publication page

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Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Journal Of Clinical Medicine

Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B

Publication Date: 2022-04-28

Variant appearance in text: rs10012

PubMed Link: 35566612

Variant Present in the following documents:

• jcm-11-02486.pdf

View BVdb publication page

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Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.

Vavilovskii Zhurnal Genetiki I Selektsii

Ivanoshchuk, D E DE; Mikhailova, S V SV; Fenkova, O G OG; Shakhtshneider, E V EV; Fursova, A Z AZ; Bychkov, I Y IY; Voevoda, M I MI

Publication Date: 2020-12

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 35087999

Variant Present in the following documents:

• Main text
• VJGB-24-20684.pdf

View BVdb publication page

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Clinical feature-related single-base substitution sequence signatures identified with an unsupervised machine learning approach.

Bmc Medical Genomics

Ji, Hongchen H; Li, Junjie J; Zhang, Qiong Q; Yang, Jingyue J; Duan, Juanli J; Wang, Xiaowen X; Ma, Ben B; Zhang, Zhuochao Z; Pan, Wei W; Zhang, Hongmei H

Publication Date: 2021-12-20

Variant appearance in text: CYP1B1: 142C>G

PubMed Link: 34930241

Variant Present in the following documents:

• 12920_2021_Article_1144.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: CYP1B1: R48G; rs10012

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: CYP1B1: R48G; rs10012

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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The ovarian carcinoma risk with the polymorphisms of CYP1B1 come from the positive selection.

American Journal Of Translational Research

Zhang, Liying L; Feng, Liyuan L; Lou, Meng M; Deng, Xihan X; Liu, Chuanzhong C; Li, Li L

Publication Date: 2021

Variant appearance in text: CYP1B1: Arg48Gly

PubMed Link: 34150017

Variant Present in the following documents:

• Main text

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: CYP1B1: 142C>G; R48G; rs10012

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: CYP1B1: 142C>G; Arg48Gly; rs10012

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.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: CYP1B1: R48G; rs10012

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports

Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR

Publication Date: 2020-12-04

Variant appearance in text: rs10012

PubMed Link: 33277594

Variant Present in the following documents:

• 41598_2020_78231_MOESM1_ESM.pdf

View BVdb publication page

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Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Translational Vision Science & Technology

Lang, Elena E; Koller, Samuel S; Bähr, Luzy L; Töteberg-Harms, Marc M; Atac, David D; Roulez, Françoise F; Bahr, Angela A; Steindl, Katharina K; Feil, Silke S; Berger, Wolfgang W; Gerth-Kahlert, Christina C

Publication Date: 2020-06

Variant appearance in text: rs10012

PubMed Link: 32832252

Variant Present in the following documents:

• Main text
• tvst-9-7-47.pdf

View BVdb publication page

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Genetic Variation and Hot Flashes: A Systematic Review.

The Journal Of Clinical Endocrinology And Metabolism

Crandall, Carolyn J CJ; Diamant, Allison L AL; Maglione, Margaret M; Thurston, Rebecca C RC; Sinsheimer, Janet J

Publication Date: 2020-12-01

Variant appearance in text: CYP1B1: Arg48Gly; rs10012

PubMed Link: 32797194

Variant Present in the following documents:

• Main text

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: CYP1B1: R48G; rs10012

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: rs10012

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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Single Nucleotide Polymorphisms in 25-Hydroxyvitamin D3 1-Alpha-Hydroxylase (CYP27B1) Gene: The Risk of Malignant Tumors and Other Chronic Diseases.

Nutrients

Latacz, Maria M; Snarska, Jadwiga J; Kostyra, Elżbieta E; Fiedorowicz, Ewa E; Savelkoul, Huub Fj HF; Grzybowski, Roman R; Cieślińska, Anna A

Publication Date: 2020-03-18

Variant appearance in text: rs10012

PubMed Link: 32197412

Variant Present in the following documents:

• Main text
• nutrients-12-00801.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: CYP1B1: R48G

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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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: CYP1B1: 142C>G; Arg48Gly

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 9

View BVdb publication page

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Polymorphisms in Phase I (CYP450) Genes CYP1A1 (rs4646421), CYP1B1 (rs1056836), CYP19A1 (rs749292) and CYP2C8 (rs1058930) and Their Relation to Risk of Breast Cancer: A Case-Control Study in Mazandaran Province in North of Iran.

Open Access Macedonian Journal Of Medical Sciences

Golmohammadzadeh, Golpar G; Mohammadpour, Abbas A; Ahangar, Nematollah N; Shokrzadeh, Mohammad M

Publication Date: 2019-08-15

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 31666853

Variant Present in the following documents:

• Main text
• OAMJMS-7-2488.pdf

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: CYP1B1: 142C>G; Arg48Gly; rs10012

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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Steroid hormone-related polymorphisms associate with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium.

Scientific Reports

Sánchez-Maldonado, Jose M JM; Cáliz, Rafael R; Canet, Luz L; Horst, Rob Ter RT; Bakker, Olivier O; den Broeder, Alfons A AA; Martínez-Bueno, Manuel M; Canhão, Helena H; Rodríguez-Ramos, Ana A; Lupiañez, Carmen B CB; Soto-Pino, María José MJ; García, Antonio A; Pérez-Pampin, Eva E; González-Utrilla, Alfonso A; Escudero, Alejandro A; Segura-Catena, Juana J; Netea-Maier, Romana T RT; Ferrer, Miguel Ángel MÁ; Collantes-Estevez, Eduardo E; López Nevot, Miguel Ángel MÁ; Li, Yang Y; Jurado, Manuel M; Fonseca, João E JE; Netea, Mihai G MG; Coenen, Marieke J H MJH; Sainz, Juan J

Publication Date: 2019-10-15

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 31616008

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51255.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: CYP1B1: R48G; rs10012

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomic Biomarkers in Docetaxel Treatment of Prostate Cancer: From Discovery to Implementation.

Genes

Varnai, Reka R; Koskinen, Leena M LM; Mäntylä, Laura E LE; Szabo, Istvan I; FitzGerald, Liesel M LM; Sipeky, Csilla C

Publication Date: 2019-08-08

Variant appearance in text: CYP1B1: Arg48Gly; rs10012

PubMed Link: 31398933

Variant Present in the following documents:

• Main text
• genes-10-00599.pdf

View BVdb publication page

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Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype.

International Journal Of Ophthalmology

Song, Na N; Leng, Lin L; Yang, Xue-Jiao XJ; Zhang, Yu-Qing YQ; Tang, Chun C; Chen, Wen-Shi WS; Zhu, Wei W; Yang, Xian X

Publication Date: 2019

Variant appearance in text: CYP1B1: 142C>G

PubMed Link: 31236345

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.

International Journal Of Ophthalmology

Khafagy, Mohamed M MM; El-Guendy, Nadia N; Tantawy, Marwa A MA; Eldaly, Mohamed A MA; Elhilali, Hala M HM; Abdel Wahab, Abdel Hady A AHA

Publication Date: 2019

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 31024815

Variant Present in the following documents:

• Main text

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: CYP1B1: 142C>G; Arg48Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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CYP1B1: A key regulator of redox homeostasis.

Trends In Cell & Molecular Biology

Falero-Perez, Juliana J; Song, Yong-Seok YS; Sorenson, Christine M CM; Sheibani, Nader N

Publication Date: 2018

Variant appearance in text: CYP1B1: Arg48Gly

PubMed Link: 30894785

Variant Present in the following documents:

• Main text

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: CYP1B1: R48G; rs10012

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

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: rs10012

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Associations of CYP1 polymorphisms with risk of prostate cancer: an updated meta-analysis.

Bioscience Reports

Zhu, Wei W; Liu, Hailang H; Wang, Xinguang X; Lu, Jinjin J; Zhang, Huiping H; Wang, Shaogang S; Yang, Weimin W

Publication Date: 2019-03-29

Variant appearance in text: rs10012

PubMed Link: 30765615

Variant Present in the following documents:

• Main text
• bsr-39-bsr20181876.pdf

View BVdb publication page

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Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

International Journal Of Ophthalmology

Waryah, Yar Muhammad YM; Iqbal, Muhammad M; Sheikh, Shakeel Ahmed SA; Baig, Muhammad Azhar MA; Narsani, Ashok Kumar AK; Atif, Muhammad M; Bhinder, Munir Ahmad MA; Ur Rahman, Attiq A; Memon, Azam Iqbal AI; Pirzado, Muhammad Suleman MS; Waryah, Ali Muhammad AM

Publication Date: 2019

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 30662834

Variant Present in the following documents:

• Main text

View BVdb publication page

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CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.

Journal Of Glaucoma

Coêlho, Rodrigo E A REA; Sena, Dayse R DR; Santa Cruz, Fernando F; Moura, Bárbara C F S BCFS; Han, Cristal C CC; Andrade, Flaviano N FN; Lira, Rodrigo P C RPC

Publication Date: 2019-02

Variant appearance in text: CYP1B1: 142C>G; rs10012

PubMed Link: 30520782

Variant Present in the following documents:

• Main text
• ijg-28-161.pdf

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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: CYP1B1: R48G; rs10012

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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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: CYP1B1: 142C>G; Arg48Gly; rs10012

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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Influence of lifestyle choices on risks of CYP1B1 polymorphisms for prostate cancer.

Journal Of Cellular And Molecular Medicine

Kato, Taku T; Hashimoto, Yutaka Y; Wong, Ryan K RK; Mitsui, Yozo Y; Maekawa, Shigekatsu S; Chang, Inik I; Shahryari, Varahram V; Yamamura, Soichiro S; Majid, Shahana S; Saini, Sharanjot S; Tabatabai, Z Laura ZL; Dahiya, Rajvir R; Deguchi, Takashi T; Tanaka, Yuichiro Y

Publication Date: 2018-10

Variant appearance in text: rs10012

PubMed Link: 30133114

Variant Present in the following documents:

• Main text

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Analysis of CYP1B1 sequence alterations in patients with primary open-angle glaucoma of Saudi origin.

Clinical Ophthalmology (Auckland, N.Z.)

Abu-Amero, Khaled K KK; Sultan, Tahira T; Al-Obeidan, Saleh A SA; Kondkar, Altaf A AA

Publication Date: 2018

Variant appearance in text: CYP1B1: R48G; rs10012

PubMed Link: 30127590

Variant Present in the following documents:

• Main text
• opth-12-1413.pdf

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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: CYP1B1: 142C>G; R48G; rs10012

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

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Assessment of interaction between maternal polycyclic aromatic hydrocarbons exposure and genetic polymorphisms on the risk of congenital heart diseases.

Scientific Reports

Li, Nana N; Mu, Yi Y; Liu, Zhen Z; Deng, Ying Y; Guo, Yixiong Y; Zhang, Xuejuan X; Li, Xiaohong X; Yu, Ping P; Wang, Yanping Y; Zhu, Jun J

Publication Date: 2018-02-15

Variant appearance in text: rs10012

PubMed Link: 29449662

Variant Present in the following documents:

• Main text

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