Publications:

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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: P437L

PubMed Link: 36518267

Variant Present in the following documents:

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

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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: 1310C>T

PubMed Link: 36083974

Variant Present in the following documents:

• Main text
• pone.0274335.pdf

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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: P437L; rs56175199

PubMed Link: 35087999

Variant Present in the following documents:

• Main text
• VJGB-24-20684.pdf

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: CYP1B1: P437L; rs56175199

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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Updates on the molecular genetics of primary congenital glaucoma (Review).

Experimental And Therapeutic Medicine

Ling, Chen C; Zhang, Dingding D; Zhang, Jing J; Sun, Huanxin H; Du, Qiu Q; Li, Xuefei X

Publication Date: 2020-08

Variant appearance in text: CYP1B1: 1310C>T

PubMed Link: 32742340

Variant Present in the following documents:

• Main text
• etm-20-02-0968.pdf

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: CYP1B1: P437L; rs56175199

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: CYP1B1: P437L

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.

Molecular Vision

Rashid, Muhammad M; Yousaf, Sairah S; Sheikh, Shakeel A SA; Sajid, Zureesha Z; Shabbir, Asra S AS; Kausar, Tasleem T; Tariq, Nabeela N; Usman, Muhammad M; Shaikh, Rehan S RS; Ali, Muhammad M; Bukhari, Shazia A SA; Waryah, Ali M AM; Qasim, Muhammad M; Riazuddin, Saima S; Ahmed, Zubair M ZM

Publication Date: 2019

Variant appearance in text: CYP1B1: 1310C>T; Pro437Leu

PubMed Link: 30820150

Variant Present in the following documents:

• Main text
• mv-v25-144.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: P437L

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: 1310C>T

PubMed Link: 30520782

Variant Present in the following documents:

• Main text
• ijg-28-161.pdf

View BVdb publication page

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Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.

Bioscience Reports

Ou, Zhiying Z; Liu, Guangjian G; Liu, Wenping W; Deng, Yehua Y; Zheng, Ling L; Zhang, Shu S; Feng, Guangqiang G

Publication Date: 2018-08-31

Variant appearance in text: CYP1B1: P437L

PubMed Link: 29903728

Variant Present in the following documents:

• Main text
• bsr-38-bsr20180056.pdf
• bsr20180056_Supp1.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs56175199

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Journal Of Pediatric Genetics

Chouiter, Leila L; Nadifi, Sellama S

Publication Date: 2017-12

Variant appearance in text: CYP1B1: Pro437Leu

PubMed Link: 29142762

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

Plos One

Banerjee, Antara A; Chakraborty, Subhadip S; Chakraborty, Abhijit A; Chakrabarti, Saikat S; Ray, Kunal K

Publication Date: 2016

Variant appearance in text: CYP1B1: P437L

PubMed Link: 27243976

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cancer Activation and Polymorphisms of Human Cytochrome P450 1B1.

Toxicological Research

Chun, Young-Jin YJ; Kim, Donghak D

Publication Date: 2016-04

Variant appearance in text: CYP1B1: P437L

PubMed Link: 27123158

Variant Present in the following documents:

• Main text
• tr-32-089.pdf

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Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice

Faiq, Muneeb M; Sharma, Reetika R; Dada, Rima R; Mohanty, Kuldeep K; Saluja, Daman D; Dada, Tanuj T

Publication Date: 2013

Variant appearance in text: CYP1B1: P437L

PubMed Link: 26997785

Variant Present in the following documents:

• Main text
• jocgp-07-066.pdf

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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: GLC3A: P437L; rs56175199

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYP1B1: P437L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Cytochrome P450 1B1 and Primary Congenital Glaucoma.

Journal Of Ophthalmic & Vision Research

Zhao, Yun Y; Sorenson, Christine M CM; Sheibani, Nader N

Publication Date: 2015

Variant appearance in text: CYP1B1: P437L

PubMed Link: 26005555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

Plos One

de Melo, Mônica Barbosa MB; Mandal, Anil K AK; Tavares, Ivan M IM; Ali, Mohammed Hasnat MH; Kabra, Meha M; de Vasconcellos, José Paulo Cabral JP; Senthil, Sirisha S; Sallum, Juliana M F JM; Kaur, Inderjeet I; Betinjane, Alberto J AJ; Moura, Christiane R CR; Paula, Jayter S JS; Costa, Karita A KA; Sarfarazi, Mansoor M; Paolera, Mauricio Della MD; Finzi, Simone S; Ferraz, Victor E F VE; Costa, Vital P VP; Belfort, Rubens R; Chakrabarti, Subhabrata S

Publication Date: 2015

Variant appearance in text: CYP1B1: P437L

PubMed Link: 25978063

Variant Present in the following documents:

• Main text
• pone.0127147.pdf

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs56175199

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

Transactions Of The American Ophthalmological Society

Wiggs, Janey L JL; Langgurth, Anne M AM; Allen, Keri F KF

Publication Date: 2014-07

Variant appearance in text: CYP1B1: 1310C>T; P437L; rs56175199

PubMed Link: 25646030

Variant Present in the following documents:

• Main text

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs56175199

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Molecular Vision

Abu-Amero, Khaled K KK; Osman, Essam A EA; Mousa, Ahmed A; Wheeler, Joshua J; Whigham, Benjamin B; Allingham, R Rand RR; Hauser, Michael A MA; Al-Obeidan, Saleh A SA

Publication Date: 2011

Variant appearance in text: CYP1B1: P437L

PubMed Link: 22128238

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary Congenital Glaucoma and the Involvement of CYP1B1.

Middle East African Journal Of Ophthalmology

Kaur, Kiranpreet K; Mandal, Anil K AK; Chakrabarti, Subhabrata S

Publication Date: 2011-01

Variant appearance in text: CYP1B1: P437L

PubMed Link: 21572728

Variant Present in the following documents:

• Main text

View BVdb publication page

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CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Molecular Vision

Campos-Mollo, Ezequiel E; López-Garrido, María-Pilar MP; Blanco-Marchite, Cristina C; Garcia-Feijoo, Julián J; Peralta, Jesús J; Belmonte-Martínez, José J; Ayuso, Carmen C; Escribano, Julio J

Publication Date: 2009

Variant appearance in text: CYP1B1: P437L

PubMed Link: 19234632

Variant Present in the following documents:

• Main text
• mv-v15-417.pdf

View BVdb publication page

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