Publications:

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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: G61E

PubMed Link: 36950438

Variant Present in the following documents:

• Main text
• PJMS-39-409.pdf

View BVdb publication page

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Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.

Indian Journal Of Ophthalmology

Sahu, Animesh A; Kaur, Savleen S; Sukhija, Jaspreet J; Srivastava, Priyanka P; Kaur, Anupriya A

Publication Date: 2023-03

Variant appearance in text: CYP1B1: 182G>A

PubMed Link: 36872713

Variant Present in the following documents:

• Main text
• IJO-71-935.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CYP1B1: 182G>A; Gly61Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A bibliometric analysis of the application of stem cells in glaucoma research from 1999 to 2022.

Frontiers In Cell And Developmental Biology

Tao, Yuanyuan Y; Zhang, Qian Q; Meng, Ming M; Huang, Jufang J

Publication Date: 2023

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 36743419

Variant Present in the following documents:

• fcell-11-1081898.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: G61E

PubMed Link: 36518267

Variant Present in the following documents:

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

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: 182G>A

PubMed Link: 36083974

Variant Present in the following documents:

• Main text
• pone.0274335.pdf

View BVdb publication page

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Cytochrome P450 1B1: role in health and disease and effect of nutrition on its expression.

Rsc Advances

Shah, Bakht Ramin BR; Xu, Wei W; Mraz, Jan J

Publication Date: 2019-07-01

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 35515562

Variant Present in the following documents:

• Main text
• RA-009-C9RA03674A.pdf

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: CYP1B1: 182G>A; rs28936700

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.

Journal Of Clinical Medicine

Shah, Manali M; Bouhenni, Rachida R; Benmerzouga, Imaan I

Publication Date: 2022-04-06

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 35407656

Variant Present in the following documents:

• Main text
• jcm-11-02048.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CYP1B1: G61E; rs28936700

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: CYP1B1: 182G>A; Gly61Glu; rs28936700

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: CYP1B1: 182G>A; Gly61Glu; rs28936700

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran.

Journal Of Ophthalmic & Vision Research

Heshmati, Ali A; Taghizadeh, Peyman P; Ahmadieh, Hamid H; Yaseri, Mehdi M; Suri, Fatemeh F; Alizadeh, Mahsa M; Dadashzadeh, Marjan M; Khatami, Hajar H; Navi, Monireh Moradkhah MM; Zamanparvar, Parisa P; Behboudi, Hassan H; Elahi, Elahe E

Publication Date: 2021

Variant appearance in text: CYP1B1: 182G>A

PubMed Link: 34840680

Variant Present in the following documents:

• Main text
• jovr-16-574.pdf

View BVdb publication page

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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: G61E; rs28936700

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.

International Journal Of Molecular And Cellular Medicine

Tolezano, Giovanna Cantini GC; da Costa, Silvia Souza SS; Scliar, Marília de Oliveira MO; Fernandes, Walter Luis Magalhães WLM; Otto, Paulo Alberto PA; Bertola, Débora Romeo DR; Rosenberg, Carla C; Vianna-Morgante, Angela Maria AM; Krepischi, Ana Cristina Victorino ACV

Publication Date: 2020

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 33688487

Variant Present in the following documents:

• ijmcm-9-296.pdf

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: rs28936700

PubMed Link: 33277594

Variant Present in the following documents:

• 41598_2020_78231_MOESM1_ESM.pdf

View BVdb publication page

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The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).

Plos One

Alghamdi, Amani A; Aldossary, Wadha W; Albahkali, Sarah S; Alotaibi, Batoul B; Alrfaei, Bahauddeen M BM

Publication Date: 2020

Variant appearance in text: CYP1B1: 182G>A; G61E

PubMed Link: 33170892

Variant Present in the following documents:

• Main text
• pone.0241902.pdf

View BVdb publication page

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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: 182G>A

PubMed Link: 32742340

Variant Present in the following documents:

• Main text
• etm-20-02-0968.pdf

View BVdb publication page

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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: G61E; rs28936700

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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The Identification and Stereochemistry Analysis of a Novel Mutation p.(D367Tfs*61) in the CYP1B1 Gene: A Case Report.

Journal Of Current Ophthalmology

Salehi Chaleshtori, Ahmad Reza AR; Garshasbi, Masoud M; Salehi, Ali A; Noruzinia, Mehrdad M

Publication Date: 2020

Variant appearance in text: CYP1B1: G61E

PubMed Link: 32510024

Variant Present in the following documents:

• JCO-32-114.pdf

View BVdb publication page

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Investigation of CYP1B1 Gene Involvement in Primary Congenital Glaucoma in Iraqi Children.

Middle East African Journal Of Ophthalmology

Jubair, Suzanne S; N Al-Rubae'i, Salwa H SH; M Al-Sharifi, Ali N AN; Jabbar Suleiman, Ahmed Abdul AA

Publication Date: 2019

Variant appearance in text: CYP1B1: 182G>A; rs28936700

PubMed Link: 32153331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: CYP1B1: 182G>A; Gly61Glu

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Primary congenital glaucoma: An updated review.

Saudi Journal Of Ophthalmology : Official Journal Of The Saudi Ophthalmological Society

Badawi, Abdulrahman H AH; Al-Muhaylib, Ahmed A AA; Al Owaifeer, Adi Mohammed AM; Al-Essa, Rakan S RS; Al-Shahwan, Sami A SA

Publication Date: 2019

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 31920449

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CYP1B1: 182G>A; rs28936700

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CYP1B1: 182G>A; Gly61Glu; rs28936700

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.

Molecular Vision

Hadrami, Mouna M; Bonnet, Crystel C; Zeitz, Christina C; Veten, Fatimetou F; Biya, Med M; Hamed, Cheikh T CT; Condroyer, Christel C; Wang, Panfeng P; Sidi, Med Mahmoud MM; Cheikh, Sidi S; Zhang, Qingjiong Q; Audo, Isabelle I; Petit, Christine C; Houmeida, Ahmed A

Publication Date: 2019

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 31367175

Variant Present in the following documents:

• Main text
• mv-v25-373.pdf

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: CYP1B1: G61E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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: G61E

PubMed Link: 31024815

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: 182G>A

PubMed Link: 30520782

Variant Present in the following documents:

• Main text
• ijg-28-161.pdf

View BVdb publication page

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Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma.

Journal Of Ophthalmic & Vision Research

Sarfarazi, Mansoor M

Publication Date: 2018

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 30479704

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.

Prenatal Diagnosis

Vossaert, Liesbeth L; Wang, Qun Q; Salman, Roseen R; Zhuo, Xinming X; Qu, Chunjing C; Henke, David D; Seubert, Ron R; Chow, Jennifer J; U'ren, Lance L; Enright, Brennan B; Stilwell, Jackie J; Kaldjian, Eric E; Yang, Yaping Y; Shaw, Chad C; Levy, Brynn B; Wapner, Ronald R; Breman, Amy A; Van den Veyver, Ignatia I; Beaudet, Arthur A

Publication Date: 2018-12

Variant appearance in text: CYP1B1: Gly61Glu

PubMed Link: 30357877

Variant Present in the following documents:

• PD-38-1069-s003.xlsx, sheet 1

View BVdb publication page

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP1B1: G61E; rs28936700

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: G61E

PubMed Link: 30127590

Variant Present in the following documents:

• Main text
• opth-12-1413.pdf

View BVdb publication page

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Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.

Scientific Reports

Huang, Chukai C; Xie, Lijing L; Wu, Zhenggen Z; Cao, Yingjie Y; Zheng, Yuqian Y; Pang, Chi-Pui CP; Zhang, Mingzhi M

Publication Date: 2018-03-14

Variant appearance in text: CYP1B1: G61E

PubMed Link: 29540704

Variant Present in the following documents:

• Main text
• 41598_2018_Article_22337.pdf

View BVdb publication page

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Primary congenital and developmental glaucomas.

Human Molecular Genetics

Lewis, Carly J CJ; Hedberg-Buenz, Adam A; DeLuca, Adam P AP; Stone, Edwin M EM; Alward, Wallace L M WLM; Fingert, John H JH

Publication Date: 2017-08-01

Variant appearance in text: CYP1B1: G61E

PubMed Link: 28549150

Variant Present in the following documents:

• Main text

View BVdb publication page

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Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.

Plos One

García-Antón, María T MT; Salazar, Juan J JJ; de Hoz, Rosa R; Rojas, Blanca B; Ramírez, Ana I AI; Triviño, Alberto A; Aroca-Aguilar, José-Daniel JD; García-Feijoo, Julián J; Escribano, Julio J; Ramírez, José M JM

Publication Date: 2017

Variant appearance in text: CYP1B1: 182G>A; Gly61Glu; rs28936700

PubMed Link: 28448622

Variant Present in the following documents:

• Main text
• pone.0176386.pdf

View BVdb publication page

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Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Molecular Vision

Reis, Linda M LM; Tyler, Rebecca C RC; Weh, Eric E; Hendee, Kathryn E KE; Kariminejad, Ariana A; Abdul-Rahman, Omar O; Ben-Omran, Tawfeg T; Manning, Melanie A MA; Yesilyurt, Ahmet A; McCarty, Catherine A CA; Kitchner, Terrie E TE; Costakos, Deborah D; Semina, Elena V EV

Publication Date: 2016

Variant appearance in text: CYP1B1: 182G>A; Gly61Glu

PubMed Link: 27777502

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Aryl Hydrocarbon Receptor Relays Metabolic Signals to Promote Cellular Regeneration.

Stem Cells International

Casado, Fanny L FL

Publication Date: 2016

Variant appearance in text: CYP1B1: G61e

PubMed Link: 27563312

Variant Present in the following documents:

• SCI2016-4389802.pdf

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: G61E

PubMed Link: 27243976

Variant Present in the following documents:

• Main text
• pone.0156252.pdf

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: G61E

PubMed Link: 27123158

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G61E

PubMed Link: 26997785

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice

Faiq, Muneeb M; Mohanty, Kuldeep K; Dada, Rima R; Dada, Tanuj T

Publication Date: 2013

Variant appearance in text: CYP1B1: G61E

PubMed Link: 26997777

Variant Present in the following documents:

• Main text
• jocgp-07-025.pdf

View BVdb publication page

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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics

Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T

Publication Date: 2016-01-07

Variant appearance in text: CYP1B1: G61E; rs28936700

PubMed Link: 26744305

Variant Present in the following documents:

• 40246_2015_58_MOESM5_ESM.xlsx, sheet 2

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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: G61E; rs28936700

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research

Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P

Publication Date: 2015

Variant appearance in text: CYP1B1: G61E

PubMed Link: 26594346

Variant Present in the following documents:

• Main text

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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: G61E

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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