SRD5A2 c.262C>T ;(p.L88L)

Variant ID: 2-31805706-G-A

NM_000348.4(SRD5A2):c.262C>T;(p.L88L)

This variant was identified in 82 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: rs523349
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Genetic variations predicting progression with docetaxel and novel androgen-receptor pathway inhibitors.

Cancer Science
Shiota, Masaki M; Akamatsu, Shusuke S; Sekine, Yuya Y; Kimura, Hiroko H; Narita, Shintaro S; Fujimoto, Naohiro N; Terada, Naoki N; Blas, Leandro L; Habuchi, Tomonori T; Kamoto, Toshiyuki T; Momozawa, Yukihide Y; Eto, Masatoshi M
Publication Date: 2023-01-05

Variant appearance in text: rs523349
PubMed Link: 36602227
Variant Present in the following documents:
  • Main text
  • CAS-114-1625.pdf
View BVdb publication page



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: rs523349
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The clinical efficacy and limitations of dutasteride-regulated abiraterone metabolism in abiraterone-resistant patients: a prospective single-arm clinical trial in Chinese patients.

Translational Andrology And Urology
Liu, Ying Y; Yang, Tao T; Xu, Chengdang C; Chen, Xi X; Chi, Yongnan Y; Zhou, Weidong W; Le, Wei W; Bian, Cuidong C; Li, Zhenfei Z; Huang, Shengsong S; Wu, Denglong D
Publication Date: 2022-08

Variant appearance in text: rs523349
PubMed Link: 36092845
Variant Present in the following documents:
  • Main text
  • tau-11-08-1169.pdf
View BVdb publication page



The association between single nucleotide polymorphisms and ovarian cancer risk: A systematic review and network meta-analysis.

Cancer Medicine
Hu, Jia J; Xu, Zhe Z; Ye, Zhuomiao Z; Li, Jin J; Hao, Zhinan Z; Wang, Yongjun Y
Publication Date: 2022-05-30

Variant appearance in text: rs523349
PubMed Link: 35637613
Variant Present in the following documents:
  • Main text
  • CAM4-12-541.pdf
View BVdb publication page



Systematic Review and Bioinformatic Analysis of microRNA Expression in Autism Spectrum Disorder Identifies Pathways Associated With Cancer, Metabolism, Cell Signaling, and Cell Adhesion.

Frontiers In Psychiatry
Huang, Zhi-Xiong ZX; Chen, Yanhui Y; Guo, Hong-Ru HR; Chen, Guo-Feng GF
Publication Date: 2021

Variant appearance in text: rs523349
PubMed Link: 34744804
Variant Present in the following documents:
  • Table_4.xlsx, sheet 2
View BVdb publication page



Gene polymorphism-related differences in the outcomes of abiraterone for prostate cancer: a systematic overview.

American Journal Of Cancer Research
Liu, Min M; Shi, Hongzhe H; Yan, Jiaqing J; Zhang, Yuan Y; Ma, Yinglin Y; Le, Kaidi K; Li, Zhongdong Z; Xing, Nianzeng N; Li, Guohui G
Publication Date: 2021

Variant appearance in text: rs523349
PubMed Link: 34094659
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms (SNPs) in prostate cancer: its implications in diagnostics and therapeutics.

American Journal Of Translational Research
Allemailem, Khaled S KS; Almatroudi, Ahmad A; Alrumaihi, Faris F; Makki Almansour, Nahlah N; Aldakheel, Fahad M FM; Rather, Rafiq Ahmad RA; Afroze, Dil D; Rah, Bilal B
Publication Date: 2021

Variant appearance in text: rs523349
PubMed Link: 34017579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms and Pharmacotherapy for Prostate Cancer.

Jma Journal
Shiota, Masaki M; Akamatsu, Shusuke S; Narita, Shintaro S; Terada, Naoki N; Fujimoto, Naohiro N; Eto, Masatoshi M
Publication Date: 2021-04-15

Variant appearance in text: rs523349
PubMed Link: 33997443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics
Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME
Publication Date: 2021

Variant appearance in text: rs523349
PubMed Link: 33981330
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prostate Cancer Mortality Associated with Aggregate Polymorphisms in Androgen-Regulating Genes: The Atherosclerosis Risk in the Communities (ARIC) Study.

Cancers
Prizment, Anna E AE; McSweeney, Sean S; Pankratz, Nathan N; Joshu, Corinne E CE; Hwang, Justin H JH; Platz, Elizabeth A EA; Ryan, Charles J CJ
Publication Date: 2021-04-19

Variant appearance in text: rs523349
PubMed Link: 33921650
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

Bmc Medical Genomics
Heng, Anna Hwee Sing AHS; Say, Yee-How YH; Sio, Yang Yie YY; Ng, Yu Ting YT; Chew, Fook Tim FT
Publication Date: 2021-04-13

Variant appearance in text: rs523349
PubMed Link: 33849530
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_953.pdf
View BVdb publication page



Role of Lipid Metabolism and Signaling in Mammalian Oocyte Maturation, Quality, and Acquisition of Competence.

Frontiers In Cell And Developmental Biology
Khan, Ranjha R; Jiang, Xiaohua X; Hameed, Uzma U; Shi, Qinghua Q
Publication Date: 2021

Variant appearance in text: rs523349
PubMed Link: 33748128
Variant Present in the following documents:
  • Main text
  • fcell-09-639704.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs523349
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Etiology of Hypospadias: A Comparative Review of Genetic Factors and Developmental Processes Between Human and Animal Models.

Research And Reports In Urology
Chang, Jun J; Wang, Shanshan S; Zheng, Zhengui Z
Publication Date: 2020

Variant appearance in text: rs523349
PubMed Link: 33381468
Variant Present in the following documents:
  • Main text
  • rru-12-673.pdf
View BVdb publication page



Steroid 5 alpha-reductase 2 enzyme variants, biomass exposure and tobacco use in Mexican patients with prostate cancer.

Oncology Letters
Delgado-Balderas, Jesus Rolando JR; Gallardo-Blanco, Hugo Leonid HL; Yee-De León, Juan Felipe JF; Rivas-Estilla, Ana Maria AM; Soto-García, Brenda B; Aráiz-Hernández, Diana D; Garza-Guajardo, Raquel R; Náñez-Marín, Melissa M; Hernández-Barajas, David D; García-Bailón, Aldo Missael AM; Vízcarra-Mata, Guillermo G; Ocaña-Munguía, Marco Alberto MA; Gómez-Guerra, Lauro Salvador LS; Sánchez-Domínguez, Celia Nohemí CN
Publication Date: 2020-11

Variant appearance in text: rs523349
PubMed Link: 32989395
Variant Present in the following documents:
  • Main text
  • ol-20-05-12124.pdf
View BVdb publication page



Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.

Biomed Research International
Han, Bing B; Cheng, Tong T; Zhu, Hui H; Yu, Jie J; Zhu, Wen-Jiao WJ; Song, Huai-Dong HD; Yao, Haijun H; Qiao, Jie J
Publication Date: 2020

Variant appearance in text: rs523349
PubMed Link: 32596280
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relation between sex hormones and leucocyte telomere length in men with idiopathic pulmonary fibrosis.

Respirology (Carlton, Vic.)
Fang, Chuling C; Huang, Hui H; Zhang, Qian Q; Wang, Na N; Jing, Xiaoyan X; Guo, Jian J; Ferianc, Martin M; Xu, Zuojun Z
Publication Date: 2020-12

Variant appearance in text: rs523349
PubMed Link: 32583532
Variant Present in the following documents:
  • Main text
  • RESP-25-1265.pdf
View BVdb publication page



Methylation of SRD5A2 promoter predicts a better outcome for castration-resistant prostate cancer patients undergoing androgen deprivation therapy.

Plos One
Wang, Zongwei Z; Deng, Tuo T; Long, Xingbo X; Lin, Xueming X; Wu, Shulin S; Wang, Hongbo H; Ge, Rongbin R; Zhang, Zhenwei Z; Wu, Chin-Lee CL; Taplin, Mary-Ellen ME; Olumi, Aria F AF
Publication Date: 2020

Variant appearance in text: rs523349
PubMed Link: 32134978
Variant Present in the following documents:
  • Main text
  • pone.0229754.pdf
View BVdb publication page



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: rs523349
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: rs523349
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Nature Neuroscience
Schafer, Simon T ST; Paquola, Apua C M ACM; Stern, Shani S; Gosselin, David D; Ku, Manching M; Pena, Monique M; Kuret, Thomas J M TJM; Liyanage, Marvin M; Mansour, Abed AlFatah AA; Jaeger, Baptiste N BN; Marchetto, Maria C MC; Glass, Christopher K CK; Mertens, Jerome J; Gage, Fred H FH
Publication Date: 2019-02

Variant appearance in text: rs523349
PubMed Link: 30617258
Variant Present in the following documents:
  • NIHMS1512664-supplement-Sup_Table_5.xlsx, sheet 1
View BVdb publication page



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: rs523349
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: rs523349
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: rs523349
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: rs523349
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 5
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



Longer TA repeat but not V89L polymorphisms in the SRD5A2 gene may confer acne risk in the Chinese population.

Postepy Dermatologii I Alergologii
Hu, Xue X; Ding, Wei W; Jin, Xinye X; Wang, Jia J; Zou, Dajin D; Chen, Yue Y
Publication Date: 2018-02

Variant appearance in text: rs523349
PubMed Link: 29610568
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.

Scientific Reports
Lin, Chun-Yen CY; Chang, Kai-Wei KW; Lin, Chia-Yi CY; Wu, Jia-Ying JY; Coon, Hilary H; Huang, Pei-Hsin PH; Ho, Hong-Nerng HN; Akbarian, Schahram S; Gau, Susan Shur-Fen SS; Huang, Hsien-Sung HS
Publication Date: 2018-03-09

Variant appearance in text: rs523349
PubMed Link: 29523860
Variant Present in the following documents:
  • 41598_2018_22753_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Genetic Risk Factors for Adverse Metabolic Outcomes in North American Testicular Cancer Survivors.

Journal Of The National Comprehensive Cancer Network : Jnccn
Zaid, Mohammad Abu MA; Gathirua-Mwangi, Wambui G WG; Fung, Chunkit C; Monahan, Patrick O PO; El-Charif, Omar O; Williams, Annalynn M AM; Feldman, Darren R DR; Hamilton, Robert J RJ; Vaughn, David J DJ; Beard, Clair J CJ; Cook, Ryan R; Althouse, Sandra K SK; Ardeshir-Rouhani-Fard, Shirin S; Dinh, Paul C PC; Sesso, Howard D HD; Einhorn, Lawrence H LH; Fossa, Sophie D SD; Travis, Lois B LB; ,
Publication Date: 2018-03

Variant appearance in text: rs523349
PubMed Link: 29523664
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs523349
PubMed Link: 29445914
Variant Present in the following documents:
View BVdb publication page



Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases.

Prostate Cancer And Prostatic Diseases
FitzGerald, L M LM; Zhao, S S; Leonardson, A A; Geybels, M S MS; Kolb, S S; Lin, D W DW; Wright, J L JL; Eeles, R R; Kote-Jarai, Z Z; Govindasami, K K; Giles, G G GG; Southey, M C MC; Schleutker, J J; Tammela, T L TL; Sipeky, C C; Penney, K L KL; Stampfer, M J MJ; Gronberg, H H; Wiklund, F F; Stattin, P P; Hugosson, J J; Karyadi, D M DM; Ostrander, E A EA; Feng, Z Z; Stanford, J L JL
Publication Date: 2018-06

Variant appearance in text: rs523349
PubMed Link: 29298992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Analysis of the SRD5A1 and SRD5A2 Genes in Patients with Benign Prostatic Hyperplasia with Regard to Metabolic Parameters and Selected Hormone Levels.

International Journal Of Environmental Research And Public Health
Rył, Aleksandra A; Rotter, Iwona I; Grzywacz, Anna A; Małecka, Iwona I; Skonieczna-Żydecka, Karolina K; Grzesiak, Katarzyna K; Słojewski, Marcin M; Szylińska, Aleksandra A; Sipak-Szmigiel, Olimpia O; Piasecka, Małgorzata M; Walczakiewicz, Kinga K; Laszczyńska, Maria M
Publication Date: 2017-10-30

Variant appearance in text: rs523349
PubMed Link: 29084161
Variant Present in the following documents:
  • Main text
  • ijerph-14-01318.pdf
View BVdb publication page



Long-term toxicity of cisplatin in germ-cell tumor survivors.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Chovanec, M M; Abu Zaid, M M; Hanna, N N; El-Kouri, N N; Einhorn, L H LH; Albany, C C
Publication Date: 2017-11-01

Variant appearance in text: rs523349
PubMed Link: 29045502
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between SRD5A2 rs523349 and rs9282858 Polymorphisms and Risk of Benign Prostatic Hyperplasia: A Meta-Analysis.

Frontiers In Physiology
Zeng, Xian-Tao XT; Su, Xin-Jun XJ; Li, Sheng S; Weng, Hong H; Liu, Tong-Zu TZ; Wang, Xing-Huan XH
Publication Date: 2017

Variant appearance in text: rs523349
PubMed Link: 28955247
Variant Present in the following documents:
  • Main text
  • fphys-08-00688.pdf
View BVdb publication page



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: rs523349
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology
Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A
Publication Date: 2017-06-14

Variant appearance in text: rs523349
PubMed Link: 28652652
Variant Present in the following documents:
  • Main text
  • WJG-23-3978.pdf
View BVdb publication page



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: rs523349
PubMed Link: 27713515
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Chinese Journal Of Cancer
Disciglio, Vittoria V; Devecchi, Andrea A; Palumbo, Orazio O; Carella, Massimo M; Penso, Donata D; Milione, Massimo M; Valle, Giorgio G; Pierotti, Marco Alessandro MA; Vitellaro, Marco M; Bertario, Lucio L; Canevari, Silvana S; Signoroni, Stefano S; De Cecco, Loris L
Publication Date: 2016-06-07

Variant appearance in text: rs523349
PubMed Link: 27267075
Variant Present in the following documents:
  • 40880_2016_115_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Association of androgen metabolism gene polymorphisms with prostate cancer risk and androgen concentrations: Results from the Prostate Cancer Prevention Trial.

Cancer
Price, Douglas K DK; Chau, Cindy H CH; Till, Cathee C; Goodman, Phyllis J PJ; Leach, Robin J RJ; Johnson-Pais, Teresa L TL; Hsing, Ann W AW; Hoque, Ashraful A; Parnes, Howard L HL; Schenk, Jeannette M JM; Tangen, Catherine M CM; Thompson, Ian M IM; Reichardt, Juergen K V JK; Figg, William D WD
Publication Date: 2016-08-01

Variant appearance in text: rs523349
PubMed Link: 27164191
Variant Present in the following documents:
  • Main text
View BVdb publication page



Joint effects of genetic variants and residential proximity to pesticide applications on hypospadias risk.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Carmichael, Suzan L SL; Yang, Wei W; Ma, Chen C; Roberts, Eric E; Kegley, Susan S; English, Paul P; Lammer, Edward J EJ; Witte, John S JS; Shaw, Gary M GM
Publication Date: 2016-08

Variant appearance in text: rs523349
PubMed Link: 27098078
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling.

Plos One
Wen, Ya Y; Alshikho, Mohamad J MJ; Herbert, Martha R MR
Publication Date: 2016

Variant appearance in text: rs523349
PubMed Link: 27055244
Variant Present in the following documents:
  • pone.0153329.s001.xls, sheet 1
View BVdb publication page



Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.

Brain Imaging And Behavior
Chen, Christina C; Van Horn, John Darrell JD; ,
Publication Date: 2017-02

Variant appearance in text: rs523349
PubMed Link: 26781567
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms in the androgen metabolism pathway and risk of prostate cancer in low incidence Malaysian ethnic groups.

International Journal Of Clinical And Experimental Medicine
Poniah, Prevathe P; Mohamed, Zahurin Z; Apalasamy, Yamunah Devi YD; Mohd Zain, Shamsul S; Kuppusamy, Shanggar S; Razack, Azad Ha AH
Publication Date: 2015

Variant appearance in text: rs523349
PubMed Link: 26770559
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs523349
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs523349
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Finasteride concentrations and prostate cancer risk: results from the Prostate Cancer Prevention Trial.

Plos One
Chau, Cindy H CH; Price, Douglas K DK; Till, Cathee C; Goodman, Phyllis J PJ; Chen, Xiaohong X; Leach, Robin J RJ; Johnson-Pais, Teresa L TL; Hsing, Ann W AW; Hoque, Ashraful A; Tangen, Catherine M CM; Chu, Lisa L; Parnes, Howard L HL; Schenk, Jeannette M JM; Reichardt, Juergen K V JK; Thompson, Ian M IM; Figg, William D WD
Publication Date: 2015

Variant appearance in text: rs523349
PubMed Link: 25955319
Variant Present in the following documents:
  • Main text
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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs523349
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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Replication of a genetic variant for prostate cancer-specific mortality.

Prostate Cancer And Prostatic Diseases
Penney, K L KL; Shui, I M IM; Feng, Z Z; Sesso, H D HD; Stampfer, M J MJ; Stanford, J L JL
Publication Date: 2015-09

Variant appearance in text: rs523349
PubMed Link: 25939514
Variant Present in the following documents:
  • Main text
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Genetic polymorphisms in estrogen-related genes and the risk of breast cancer among Han Chinese women.

International Journal Of Molecular Sciences
Sun, Min-Ying MY; Du, Hong-Yan HY; Zhu, An-Na AN; Liang, Hui-Ying HY; de Garibay, Gorka Ruiz GR; Li, Fen-Xia FX; Li, Ming M; Yang, Xue-Xi XX
Publication Date: 2015-02-13

Variant appearance in text: rs523349
PubMed Link: 25689428
Variant Present in the following documents:
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The association of 5-alpha reductase type 2 (SRD5A2) gene polymorphisms with prostate cancer in a Korean population.

Korean Journal Of Urology
Choi, Se Young SY; Kim, Hae Jong HJ; Cheong, Hyun Sub HS; Myung, Soon Chul SC
Publication Date: 2015-01

Variant appearance in text: rs523349
PubMed Link: 25598933
Variant Present in the following documents:
  • Main text
  • kju-56-19-s001.pdf
  • kju-56-19.pdf
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Associations between Salivary Testosterone Levels, Androgen-Related Genetic Polymorphisms, and Self-Estimated Ejaculation Latency Time.

Sexual Medicine
Jern, Patrick P; Westberg, Lars L; Ankarberg-Lindgren, Carina C; Johansson, Ada A; Gunst, Annika A; Sandnabba, N Kenneth NK; Santtila, Pekka P
Publication Date: 2014-08

Variant appearance in text: rs523349
PubMed Link: 25356307
Variant Present in the following documents:
  • Main text
  • sm20002-0107.pdf
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