Publications:

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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: rs676387

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Expression profiling of precuneus layer III cathepsin D-immunopositive pyramidal neurons in mild cognitive impairment and Alzheimer's disease: Evidence for neuronal signaling vulnerability.

The Journal Of Comparative Neurology

He, Bin B; Perez, Sylvia E SE; Lee, Sang H SH; Ginsberg, Stephen D SD; Malek-Ahmadi, Michael M; Mufson, Elliott J EJ

Publication Date: 2020-11-01

Variant appearance in text: rs676387

PubMed Link: 32323319

Variant Present in the following documents:

• Main text

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Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry.

Ebiomedicine

Yang, Yaohua Y; Shu, Xiang X; Shu, Xiao-Ou XO; Bolla, Manjeet K MK; Kweon, Sun-Seog SS; Cai, Qiuyin Q; Michailidou, Kyriaki K; Wang, Qin Q; Dennis, Joe J; Park, Boyoung B; Matsuo, Keitaro K; Kwong, Ava A; Park, Sue Kyung SK; Wu, Anna H AH; Teo, Soo Hwang SH; Iwasaki, Motoki M; Choi, Ji-Yeob JY; Li, Jingmei J; Hartman, Mikael M; Shen, Chen-Yang CY; Muir, Kenneth K; Lophatananon, Artitaya A; Li, Bingshan B; Wen, Wanqing W; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Aronson, Kristan J KJ; Spinell, John J JJ; Gago-Dominguez, Manuela M; John, Esther M EM; Kurian, Allison W AW; Chang-Claude, Jenny J; Chen, Shou-Tung ST; Dörk, Thilo T; Evans, D Gareth R DGR; Schmidt, Marjanka K MK; Shin, Min-Ho MH; Giles, Graham G GG; Milne, Roger L RL; Simard, Jacques J; Kubo, Michiaki M; Kraft, Peter P; Kang, Daehee D; Easton, Douglas F DF; Zheng, Wei W; Long, Jirong J

Publication Date: 2019-10

Variant appearance in text: rs676387

PubMed Link: 31629678

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.

Human Molecular Genetics

Johansson, Åsa Å; Rask-Andersen, Mathias M; Karlsson, Torgny T; Ek, Weronica E WE

Publication Date: 2019-12-01

Variant appearance in text: rs676387

PubMed Link: 31361310

Variant Present in the following documents:

• Main text
• ddz175.pdf
• s10_table_ddz175.xlsx, sheet 1

View BVdb publication page

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Mitochondrial pyruvate import is a metabolic vulnerability in androgen receptor-driven prostate cancer.

Nature Metabolism

Bader, David A DA; Hartig, Sean M SM; Putluri, Vasanta V; Foley, Christopher C; Hamilton, Mark P MP; Smith, Eric A EA; Saha, Pradip K PK; Panigrahi, Anil A; Walker, Christopher C; Zong, Lin L; Martini-Stoica, Heidi H; Chen, Rui R; Rajapakshe, Kimal K; Coarfa, Cristian C; Sreekumar, Arun A; Mitsiades, Nicholas N; Bankson, James A JA; Ittmann, Michael M MM; O'Malley, Bert W BW; Putluri, Nagireddy N; McGuire, Sean E SE

Publication Date: 2019-01

Variant appearance in text: rs676387

PubMed Link: 31198906

Variant Present in the following documents:

• NIHMS1508495-supplement-Data_Set_1.xlsx, sheet 6
• NIHMS1508495-supplement-Data_Set_1.xlsx, sheet 5

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: HSD17B1: 540-150C>A; rs676387

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Interaction between dietary acrylamide intake and genetic variants for estrogen receptor-positive breast cancer risk.

European Journal Of Nutrition

Hogervorst, Janneke G F JGF; van den Brandt, Piet A PA; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2019-04

Variant appearance in text: rs676387

PubMed Link: 29445914

Variant Present in the following documents:

View BVdb publication page

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Epidemiology of estrogen and dementia in women with Down syndrome.

Free Radical Biology & Medicine

Schupf, Nicole N; Lee, Joseph H JH; Pang, Deborah D; Zigman, Warren B WB; Tycko, Benjamin B; Krinsky-McHale, Sharon S; Silverman, Wayne W

Publication Date: 2018-01

Variant appearance in text: rs676387

PubMed Link: 28843780

Variant Present in the following documents:

• Main text

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: rs676387

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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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs676387

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.

Journal Of Assisted Reproduction And Genetics

Osiński, Maciej M; Mostowska, Adrianna A; Wirstlein, Przemyslaw P; Skrzypczak, Jana J; Jagodziński, Paweł Piotr PP; Szczepańska, Malgorzata M

Publication Date: 2017-06

Variant appearance in text: rs676387

PubMed Link: 28405865

Variant Present in the following documents:

• Main text
• 10815_2017_Article_911.pdf

View BVdb publication page

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Molecular basis for prostate cancer racial disparities.

Frontiers In Bioscience (Landmark Edition)

Singh, Santosh K SK; Lillard, James W JW; Singh, Rajesh R

Publication Date: 2017-01-01

Variant appearance in text: rs676387

PubMed Link: 27814623

Variant Present in the following documents:

• Main text

View BVdb publication page

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The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk.

Scientific Reports

Hogervorst, Janneke G F JG; van den Brandt, Piet A PA; Godschalk, Roger W L RW; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2016-10-07

Variant appearance in text: rs676387

PubMed Link: 27713515

Variant Present in the following documents:

View BVdb publication page

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Current knowledge of the multifunctional 17β-hydroxysteroid dehydrogenase type 1 (HSD17B1).

Gene

He, Wanhong W; Gauri, Misra M; Li, Tang T; Wang, Ruixuan R; Lin, Sheng-Xiang SX

Publication Date: 2016-08-15

Variant appearance in text: rs676387

PubMed Link: 27102893

Variant Present in the following documents:

• Main text

View BVdb publication page

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A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH

Publication Date: 2015

Variant appearance in text: rs676387

PubMed Link: 25592580

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ethnical disparities of prostate cancer predisposition: genetic polymorphisms in androgen-related genes.

American Journal Of Cancer Research

Li, Jie J; Mercer, Emma E; Gou, Xin X; Lu, Yong-Jie YJ

Publication Date: 2013

Variant appearance in text: rs676387

PubMed Link: 23593537

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in HSD17B1: Early Onset and Increased Risk of Alzheimer's Disease in Women with Down Syndrome.

Current Gerontology And Geriatrics Research

Lee, Joseph H JH; Gurney, Susan S; Pang, Deborah D; Temkin, Alexis A; Park, Naeun N; Janicki, Sarah C SC; Zigman, Warren B WB; Silverman, Wayne W; Tycko, Benjamin B; Schupf, Nicole N

Publication Date: 2012

Variant appearance in text: rs676387

PubMed Link: 22474448

Variant Present in the following documents:

• Main text
• CGGR2012-361218.pdf

View BVdb publication page

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Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

The Lancet. Oncology

Zhang, Ben B; Beeghly-Fadiel, Alicia A; Long, Jirong J; Zheng, Wei W

Publication Date: 2011-05

Variant appearance in text: rs676387

PubMed Link: 21514219

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in genes involved in the estrogen pathway and mammographic density.

Bmc Cancer

Dumas, Isabelle I; Diorio, Caroline C

Publication Date: 2010-11-22

Variant appearance in text: rs676387

PubMed Link: 21092186

Variant Present in the following documents:

• Main text
• 1471-2407-10-636.pdf

View BVdb publication page

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Effect modification of endocrine disruptors and testicular germ cell tumour risk by hormone-metabolizing genes.

International Journal Of Andrology

Chia, V M VM; Li, Y Y; Quraishi, S M SM; Graubard, B I BI; Figueroa, J D JD; Weber, J-P JP; Chanock, S J SJ; Rubertone, M V MV; Erickson, R L RL; McGlynn, K A KA

Publication Date: 2010-08-01

Variant appearance in text: rs676387

PubMed Link: 19627379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

Carcinogenesis

Freedman, Neal D ND; Ahn, Jiyoung J; Hou, Lifang L; Lissowska, Jolanta J; Zatonski, Witold W; Yeager, Meredith M; Chanock, Stephen J SJ; Chow, Wong Ho WH; Abnet, Christian C CC

Publication Date: 2009-01

Variant appearance in text: rs676387

PubMed Link: 19015200

Variant Present in the following documents:

• Main text

View BVdb publication page

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HSD17B1 genetic variants and hormone receptor-defined breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Gaudet, Mia M MM; Chanock, Stephen S; Dunning, Alison A; Driver, Kristy K; Brinton, Louise A LA; Lissowska, Jolanta J; Peplonska, Beata B; Pharoah, Paul P; Garcia-Closas, Montserrat M

Publication Date: 2008-10

Variant appearance in text: rs676387

PubMed Link: 18843021

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the HSD17B1 gene and risk of prostate cancer.

Plos Genetics

Kraft, Peter P; Pharoah, Paul P; Chanock, Stephen J SJ; Albanes, Demetrius D; Kolonel, Laurence N LN; Hayes, Richard B RB; Altshuler, David D; Andriole, Gerald G; Berg, Christine C; Boeing, Heiner H; Burtt, Noel P NP; Bueno-de-Mesquita, Bas B; Calle, Eugenia E EE; Cann, Howard H; Canzian, Federico F; Chen, Yen-Ching YC; Crawford, David E DE; Dunning, Alison M AM; Feigelson, Heather S HS; Freedman, Matthew L ML; Gaziano, John M JM; Giovannucci, Ed E; Gonzalez, Carlos Alberto CA; Haiman, Christopher A CA; Hallmans, Goran G; Henderson, Brian E BE; Hirschhorn, Joel N JN; Hunter, David J DJ; Kaaks, Rudolf R; Key, Timothy T; Le Marchand, Loic L; Ma, Jing J; Overvad, Kim K; Palli, Domenico D; Pike, Malcolm C MC; Riboli, Elio E; Rodriguez, Carmen C; Setiawan, Wendy V WV; Stampfer, Meir J MJ; Stram, Daniel O DO; Thomas, Gilles G; Thun, Michael J MJ; Travis, Ruth R; Trichopoulou, Antonia A; Virtamo, Jarmo J; Wacholder, Sholom S

Publication Date: 2005-11

Variant appearance in text: rs676387

PubMed Link: 16311626

Variant Present in the following documents:

• pgen.0010068.pdf

View BVdb publication page

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