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: 1347T>C

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: rs1056837

PubMed Link: 36518267

Variant Present in the following documents:

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

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: CYP1B1: D449D; rs1056837

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: CYP1B1: D449D

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_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: 1347T>C; rs1056837

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: D449D

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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: rs1056837

PubMed Link: 35802478

Variant Present in the following documents:

• Main text
• noac171_suppl_suplementary_table_ss9.xls, sheet 1
• noac171_suppl_suplementary_table_s1.xlsx, sheet 1
• noac171.pdf
• noac171_suppl_suplementary_table_s7.xlsx, 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: rs1056837

PubMed Link: 35566612

Variant Present in the following documents:

• jcm-11-02486.pdf

View BVdb publication page

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Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota.

The Pharmacogenomics Journal

Lopes, Guilherme S GS; Lopes, Jaime L JL; Bielinski, Suzette J SJ; Armasu, Sebastian M SM; Zhu, Ye Y; Cavanaugh, Dana C DC; Moyer, Ann M AM; Jacobson, Debra J DJ; Wang, Liwei L; Jiang, Ruoxiang R; St Sauver, Jennifer L JL; Larson, Nicholas B NB

Publication Date: 2022-03

Variant appearance in text: rs1056837

PubMed Link: 35102242

Variant Present in the following documents:

• Main text
• 41397_2022_Article_265.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: rs1056837

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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: 1347T>C; D449D; rs1056837

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report.

World Journal Of Clinical Cases

Wu, Jian J; Yuan, Yuan Y; Wang, Xin X; Shao, Dong-Ying DY; Liu, Li-Guo LG; He, Jian J; Li, Peng P

Publication Date: 2021-05-06

Variant appearance in text: rs1056837

PubMed Link: 33969094

Variant Present in the following documents:

• Main text

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: Asp449Asp; rs1056837

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: D449D; rs1056837

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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: CYP1B1: 1347T>C; D449D; rs1056837

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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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: CYP1B1: 1347T>C

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

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: rs1056837

PubMed Link: 32832252

Variant Present in the following documents:

• Main text
• tvst-9-7-47.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: rs1056837

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 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: D449D; rs1056837

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Massively parallel reporter assays of melanoma risk variants identify MX2 as a gene promoting melanoma.

Nature Communications

Choi, Jiyeon J; Zhang, Tongwu T; Vu, Andrew A; Ablain, Julien J; Makowski, Matthew M MM; Colli, Leandro M LM; Xu, Mai M; Hennessey, Rebecca C RC; Yin, Jinhu J; Rothschild, Harriet H; Gräwe, Cathrin C; Kovacs, Michael A MA; Funderburk, Karen M KM; Brossard, Myriam M; Taylor, John J; Pasaniuc, Bogdan B; Chari, Raj R; Chanock, Stephen J SJ; Hoggart, Clive J CJ; Demenais, Florence F; Barrett, Jennifer H JH; Law, Matthew H MH; Iles, Mark M MM; Yu, Kai K; Vermeulen, Michiel M; Zon, Leonard I LI; Brown, Kevin M KM

Publication Date: 2020-06-01

Variant appearance in text: rs1056837

PubMed Link: 32483191

Variant Present in the following documents:

• Main text

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: rs1056837

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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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: D449D; rs1056837

PubMed Link: 32153331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: CYP1B1: 1347T>C; D449D; rs1056837

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_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: CYP1B1: 1347T>C; Asp449=; rs1056837

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: CYP1B1: D449D; rs1056837

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_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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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: 1347T>C; D449D

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: D449D; rs1056837

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: D449D; rs1056837

PubMed Link: 31024815

Variant Present in the following documents:

• Main text

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: rs1056837

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: D449D; rs1056837

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: 1347T>C; D449D; rs1056837

PubMed Link: 30520782

Variant Present in the following documents:

• Main text
• ijg-28-161.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1056837

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1347T>C; rs1056837

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs1056837

PubMed Link: 30133114

Variant Present in the following documents:

• Main text

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: D449D; rs1056837

PubMed Link: 30127590

Variant Present in the following documents:

• Main text
• opth-12-1413.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: CYP1B1: 1347T>C; D449D; rs1056837

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology

Cust, Anne E AE; Drummond, Martin M; Kanetsky, Peter A PA; , ; , ; Goldstein, Alisa M AM; Barrett, Jennifer H JH; MacGregor, Stuart S; Law, Matthew H MH; Iles, Mark M MM; Bui, Minh M; Hopper, John L JL; Brossard, Myriam M; Demenais, Florence F; Taylor, John C JC; Hoggart, Clive C; Brown, Kevin M KM; Landi, Maria Teresa MT; Newton-Bishop, Julia A JA; Mann, Graham J GJ; Bishop, D Timothy DT

Publication Date: 2018-12

Variant appearance in text: rs1056837

PubMed Link: 29890168

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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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: rs1056837

PubMed Link: 29449662

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21380.pdf

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: rs1056837

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: CYP1B1: D449D; rs1056837

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects.

Drug Design, Development And Therapy

Woo, Hye In HI; Kim, Suk Ran SR; Huh, Wooseong W; Ko, Jae-Wook JW; Lee, Soo-Youn SY

Publication Date: 2017

Variant appearance in text: CYP1B1: 1347T>C; Asp449=; rs1056837

PubMed Link: 28435225

Variant Present in the following documents:

• Main text

View BVdb publication page

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Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype.

Human Genomics

Jorge-Nebert, Lucia F LF; Zhang, Ge G; Wilson, Keith M KM; Jiang, Zhengwen Z; Butler, Randall R; Gluckman, Jack L JL; Pinney, Susan M SM; Nebert, Daniel W DW

Publication Date: 2016-11-28

Variant appearance in text: CYP1B1: D449D; rs1056837

PubMed Link: 27894333

Variant Present in the following documents:

• Main text
• 40246_2016_Article_94.pdf

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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: 1347T>C; Asp449Asp

PubMed Link: 27777502

Variant Present in the following documents:

• Main text

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: CYP1B1: 1347T>C; Asp449=

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.

Human Genome Variation

Rauf, Bushra B; Irum, Bushra B; Kabir, Firoz F; Firasat, Sabika S; Naeem, Muhammad Asif MA; Khan, Shaheen N SN; Husnain, Tayyab T; Riazuddin, Sheikh S; Akram, Javed J; Riazuddin, S Amer SA

Publication Date: 2016

Variant appearance in text: rs1056837

PubMed Link: 27508083

Variant Present in the following documents:

• Main text
• hgv201621.pdf

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: CYP1B1: D449D; rs1056837

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1

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