PRIM1 c.14A>C ;(p.D5A)

Variant ID: 12-57146069-T-G

NM_000946.2(PRIM1):c.14A>C;(p.D5A)

This variant was identified in 49 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: PRIM1: D5A; rs2277339
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

International Journal Of Molecular Sciences
Chen, Mengchi M; Jiang, Haotian H; Zhang, Chunping C
Publication Date: 2023-02-23

Variant appearance in text: rs2277339
PubMed Link: 36901862
Variant Present in the following documents:
  • Main text
  • ijms-24-04423.pdf
View BVdb publication page



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: PRIM1: D5A; rs2277339
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits.

Plos Genetics
Chun, Sung S; Akle, Sebastian S; Teodosiadis, Athanasios A; Cade, Brian E BE; Wang, Heming H; Sofer, Tamar T; Evans, Daniel S DS; Stone, Katie L KL; Gharib, Sina A SA; Mukherjee, Sutapa S; Palmer, Lyle J LJ; Hillman, David D; Rotter, Jerome I JI; Hanis, Craig L CL; Stamatoyannopoulos, John A JA; Redline, Susan S; Cotsapas, Chris C; Sunyaev, Shamil R SR
Publication Date: 2022-12-27

Variant appearance in text: rs2277339
PubMed Link: 36574455
Variant Present in the following documents:
  • Main text
  • pgen.1010557.pdf
View BVdb publication page



Your height affects your health: genetic determinants and health-related outcomes in Taiwan.

Bmc Medicine
Chiou, Jian-Shiun JS; Cheng, Chi-Fung CF; Liang, Wen-Miin WM; Chou, Chen-Hsing CH; Wang, Chung-Hsing CH; Lin, Wei-De WD; Chiu, Mu-Lin ML; Cheng, Wei-Chung WC; Lin, Cheng-Wen CW; Lin, Ting-Hsu TH; Liao, Chiu-Chu CC; Huang, Shao-Mei SM; Tsai, Chang-Hai CH; Lin, Ying-Ju YJ; Tsai, Fuu-Jen FJ
Publication Date: 2022-07-13

Variant appearance in text: rs2277339
PubMed Link: 35831902
Variant Present in the following documents:
  • Main text
View BVdb publication page



Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Breast Cancer Risk Prediction Among Asian Women.

Jama Network Open
Yang, Yaohua Y; Tao, Ran R; Shu, Xiang X; Cai, Qiuyin Q; Wen, Wanqing W; Gu, Kai K; Gao, Yu-Tang YT; Zheng, Ying Y; Kweon, Sun-Seog SS; Shin, Min-Ho MH; Choi, Ji-Yeob JY; Lee, Eun-Sook ES; Kong, Sun-Young SY; Park, Boyoung B; Park, Min Ho MH; Jia, Guochong G; Li, Bingshan B; Kang, Daehee D; Shu, Xiao-Ou XO; Long, Jirong J; Zheng, Wei W
Publication Date: 2022-03-01

Variant appearance in text: rs2277339
PubMed Link: 35311964
Variant Present in the following documents:
  • jamanetwopen-e2149030-s001.pdf
View BVdb publication page



Obesity and risk of female reproductive conditions: A Mendelian randomisation study.

Plos Medicine
Venkatesh, Samvida S SS; Ferreira, Teresa T; Benonisdottir, Stefania S; Rahmioglu, Nilufer N; Becker, Christian M CM; Granne, Ingrid I; Zondervan, Krina T KT; Holmes, Michael V MV; Lindgren, Cecilia M CM; Wittemans, Laura B L LBL
Publication Date: 2022-02

Variant appearance in text: rs2277339
PubMed Link: 35104295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Obesity and risk of female reproductive conditions: A Mendelian randomisation study.

Plos Medicine
Venkatesh, Samvida S SS; Ferreira, Teresa T; Benonisdottir, Stefania S; Rahmioglu, Nilufer N; Becker, Christian M CM; Granne, Ingrid I; Zondervan, Krina T KT; Holmes, Michael V MV; Lindgren, Cecilia M CM; Wittemans, Laura B L LBL
Publication Date: 2022-02

Variant appearance in text: rs2277339
PubMed Link: 35104295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is Genetic Risk for Sleep Apnea Causally Linked With Glaucoma Susceptibility?

Investigative Ophthalmology & Visual Science
Ingold, Nathan N; Campos, Adrian I AI; Han, Xikun X; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Mackey, David A DA; Rentería, Miguel E ME; Law, Matthew H MH; MacGregor, Stuart S
Publication Date: 2022-01-03

Variant appearance in text: rs2277339
PubMed Link: 35050305
Variant Present in the following documents:
  • iovs-63-1-25_s001.pdf
View BVdb publication page



Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.

Human Molecular Genetics
Thompson, Andrew A; King, Katharine K; Morris, Andrew P AP; Pirmohamed, Munir M
Publication Date: 2021-10-13

Variant appearance in text: rs2277339
PubMed Link: 34104963
Variant Present in the following documents:
  • Main text
  • ddab147.pdf
View BVdb publication page



Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications
Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX
Publication Date: 2021-05-24

Variant appearance in text: PRIM1: 14A>C; D5A; rs2277339
PubMed Link: 34031426
Variant Present in the following documents:
  • 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.

Nature Genetics
Bonder, Marc Jan MJ; Smail, Craig C; Gloudemans, Michael J MJ; Frésard, Laure L; Jakubosky, David D; D'Antonio, Matteo M; Li, Xin X; Ferraro, Nicole M NM; Carcamo-Orive, Ivan I; Mirauta, Bogdan B; Seaton, Daniel D DD; Cai, Na N; Vakili, Dara D; Horta, Danilo D; Zhao, Chunli C; Zastrow, Diane B DB; Bonner, Devon E DE; , ; , ; , ; , ; Wheeler, Matthew T MT; Kilpinen, Helena H; Knowles, Joshua W JW; Smith, Erin N EN; Frazer, Kelly A KA; Montgomery, Stephen B SB; Stegle, Oliver O
Publication Date: 2021-03

Variant appearance in text: rs2277339
PubMed Link: 33664507
Variant Present in the following documents:
  • NIHMS1666585-supplement-2.pdf
View BVdb publication page



Targeting Loss of Heterozygosity: A Novel Paradigm for Cancer Therapy.

Pharmaceuticals (Basel, Switzerland)
Zhang, Xiaonan X; Sjöblom, Tobias T
Publication Date: 2021-01-13

Variant appearance in text: rs2277339
PubMed Link: 33450833
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00057.pdf
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: PRIM1: D5A
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 21
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 20
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Functionally informed fine-mapping and polygenic localization of complex trait heritability.

Nature Genetics
Weissbrod, Omer O; Hormozdiari, Farhad F; Benner, Christian C; Cui, Ran R; Ulirsch, Jacob J; Gazal, Steven S; Schoech, Armin P AP; van de Geijn, Bryce B; Reshef, Yakir Y; Márquez-Luna, Carla C; O'Connor, Luke L; Pirinen, Matti M; Finucane, Hilary K HK; Price, Alkes L AL
Publication Date: 2020-12

Variant appearance in text: rs2277339
PubMed Link: 33199916
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.

Communications Biology
Pei, Yu-Fang YF; Liu, Yao-Zhong YZ; Yang, Xiao-Lin XL; Zhang, Hong H; Feng, Gui-Juan GJ; Wei, Xin-Tong XT; Zhang, Lei L
Publication Date: 2020-10-23

Variant appearance in text: rs2277339
PubMed Link: 33097823
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1334.pdf
View BVdb publication page



The NEMP family supports metazoan fertility and nuclear envelope stiffness.

Science Advances
Tsatskis, Yonit Y; Rosenfeld, Robyn R; Pearson, Joel D JD; Boswell, Curtis C; Qu, Yi Y; Kim, Kyunga K; Fabian, Lacramioara L; Mohammad, Ariz A; Wang, Xian X; Robson, Michael I MI; Krchma, Karen K; Wu, Jun J; Gonçalves, João J; Hodzic, Didier D; Wu, Shu S; Potter, Daniel D; Pelletier, Laurence L; Dunham, Wade H WH; Gingras, Anne-Claude AC; Sun, Yu Y; Meng, Jin J; Godt, Dorothea D; Schedl, Tim T; Ciruna, Brian B; Choi, Kyunghee K; Perry, John R B JRB; Bremner, Rod R; Schirmer, Eric C EC; Brill, Julie A JA; Jurisicova, Andrea A; McNeill, Helen H
Publication Date: 2020-08

Variant appearance in text: rs2277339
PubMed Link: 32923640
Variant Present in the following documents:
  • Main text
  • abb4591_SM.pdf
  • abb4591.pdf
View BVdb publication page



Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.

Nature Genetics
Ishigaki, Kazuyoshi K; Akiyama, Masato M; Kanai, Masahiro M; Takahashi, Atsushi A; Kawakami, Eiryo E; Sugishita, Hiroki H; Sakaue, Saori S; Matoba, Nana N; Low, Siew-Kee SK; Okada, Yukinori Y; Terao, Chikashi C; Amariuta, Tiffany T; Gazal, Steven S; Kochi, Yuta Y; Horikoshi, Momoko M; Suzuki, Ken K; Ito, Kaoru K; Koyama, Satoshi S; Ozaki, Kouichi K; Niida, Shumpei S; Sakata, Yasushi Y; Sakata, Yasuhiko Y; Kohno, Takashi T; Shiraishi, Kouya K; Momozawa, Yukihide Y; Hirata, Makoto M; Matsuda, Koichi K; Ikeda, Masashi M; Iwata, Nakao N; Ikegawa, Shiro S; Kou, Ikuyo I; Tanaka, Toshihiro T; Nakagawa, Hidewaki H; Suzuki, Akari A; Hirota, Tomomitsu T; Tamari, Mayumi M; Chayama, Kazuaki K; Miki, Daiki D; Mori, Masaki M; Nagayama, Satoshi S; Daigo, Yataro Y; Miki, Yoshio Y; Katagiri, Toyomasa T; Ogawa, Osamu O; Obara, Wataru W; Ito, Hidemi H; Yoshida, Teruhiko T; Imoto, Issei I; Takahashi, Takashi T; Tanikawa, Chizu C; Suzuki, Takao T; Sinozaki, Nobuaki N; Minami, Shiro S; Yamaguchi, Hiroki H; Asai, Satoshi S; Takahashi, Yasuo Y; Yamaji, Ken K; Takahashi, Kazuhisa K; Fujioka, Tomoaki T; Takata, Ryo R; Yanai, Hideki H; Masumoto, Akihide A; Koretsune, Yukihiro Y; Kutsumi, Hiromu H; Higashiyama, Masahiko M; Murayama, Shigeo S; Minegishi, Naoko N; Suzuki, Kichiya K; Tanno, Kozo K; Shimizu, Atsushi A; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Uemura, Hirokazu H; Tanaka, Keitaro K; Naito, Mariko M; Sasaki, Makoto M; Wakai, Kenji K; Tsugane, Shoichiro S; Yamamoto, Masayuki M; Yamamoto, Kazuhiko K; Murakami, Yoshinori Y; Nakamura, Yusuke Y; Raychaudhuri, Soumya S; Inazawa, Johji J; Yamauchi, Toshimasa T; Kadowaki, Takashi T; Kubo, Michiaki M; Kamatani, Yoichiro Y
Publication Date: 2020-07

Variant appearance in text: rs2277339
PubMed Link: 32514122
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: PRIM1: 14A>C; Asp5Ala; rs2277339
PubMed Link: 32433464
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_16399.pdf
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_16399_MOESM1_ESM.pdf
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications
Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y
Publication Date: 2019-09-27

Variant appearance in text: PRIM1: D5A; rs2277339
PubMed Link: 31562340
Variant Present in the following documents:
  • 41467_2019_12276_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: PRIM1: D5A; rs2277339
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2277339
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of Reproductive Traits and Cardiometabolic Disease Risk in African American Women.

Nursing Research
Hardy, Theresa M TM; Barcelona, Veronica V; Sun, Yan V YV; Taylor, Jacquelyn Y JY
Publication Date: 2019

Variant appearance in text: rs2277339
PubMed Link: 30570522
Variant Present in the following documents:
  • Main text
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: PRIM1: D5A; rs2277339
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Transcriptome-Wide Association Study Identifies Susceptibility Loci and Genes for Age at Natural Menopause.

Reproductive Sciences (Thousand Oaks, Calif.)
Shi, Jiajun J; Wu, Lang L; Li, Bingshan B; Lu, Yingchang Y; Guo, Xingyi X; Cai, Qiuyin Q; Long, Jirong J; Wen, Wanqing W; Zheng, Wei W; Shu, Xiao-Ou XO
Publication Date: 2019-04

Variant appearance in text: rs2277339
PubMed Link: 29848177
Variant Present in the following documents:
  • Main text
View BVdb publication page



Elucidating the genetic architecture of reproductive ageing in the Japanese population.

Nature Communications
Horikoshi, Momoko M; Day, Felix R FR; Akiyama, Masato M; Hirata, Makoto M; Kamatani, Yoichiro Y; Matsuda, Koichi K; Ishigaki, Kazuyoshi K; Kanai, Masahiro M; Wright, Hollis H; Toro, Carlos A CA; Ojeda, Sergio R SR; Lomniczi, Alejandro A; Kubo, Michiaki M; Ong, Ken K KK; Perry, John R B JRB
Publication Date: 2018-05-17

Variant appearance in text: rs2277339
PubMed Link: 29773799
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4398.pdf
View BVdb publication page



An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Genome Medicine
Zhao, Junfei J; Cheng, Feixiong F; Jia, Peilin P; Cox, Nancy N; Denny, Joshua C JC; Zhao, Zhongming Z
Publication Date: 2018-01-29

Variant appearance in text: PRIM1: D5A; rs2277339
PubMed Link: 29378629
Variant Present in the following documents:
  • 13073_2018_513_MOESM4_ESM.xlsx, sheet 1
  • 13073_2018_513_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017

Variant appearance in text: PRIM1: 14A>C; Asp5Ala
PubMed Link: 28472130
Variant Present in the following documents:
  • pone.0176516.s002.xlsx, sheet 1
View BVdb publication page



Genetic variants of age at menopause are not related to timing of ovarian failure in breast cancer survivors.

Menopause (New York, N.Y.)
Homer, Michael V MV; Charo, Lindsey M LM; Natarajan, Loki L; Haunschild, Carolyn C; Chung, Karine K; Mao, Jun J JJ; DeMichele, Angela M AM; Su, H Irene HI
Publication Date: 2017-06

Variant appearance in text: rs2277339
PubMed Link: 28118297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.

Menopause (New York, N.Y.)
Pasquale, Louis R LR; Aschard, Hugues H; Kang, Jae H JH; Bailey, Jessica N Cooke JN; Lindström, Sara S; Chasman, Daniel I DI; Christen, William G WG; Allingham, R Rand RR; Ashley-Koch, Allison A; Lee, Richard K RK; Moroi, Sayoko E SE; Brilliant, Murray H MH; Wollstein, Gadi G; Schuman, Joel S JS; Fingert, John J; Budenz, Donald L DL; Realini, Tony T; Gaasterland, Terry T; Gaasterland, Douglas D; Scott, William K WK; Singh, Kuldev K; Sit, Arthur J AJ; Igo, Robert P RP; Song, Yeunjoo E YE; Hark, Lisa L; Ritch, Robert R; Rhee, Douglas J DJ; Gulati, Vikas V; Havens, Shane S; Vollrath, Douglas D; Zack, Donald J DJ; Medeiros, Felipe F; Weinreb, Robert N RN; Pericak-Vance, Margaret A MA; Liu, Yutao Y; Kraft, Peter P; Richards, Julia E JE; Rosner, Bernard A BA; Hauser, Michael A MA; Haines, Jonathan L JL; Wiggs, Janey L JL
Publication Date: 2017-02

Variant appearance in text: rs2277339
PubMed Link: 27760082
Variant Present in the following documents:
  • Main text
  • menop-24-150.pdf
View BVdb publication page



Age at menarche and age at natural menopause in East Asian women: a genome-wide association study.

Age (Dordrecht, Netherlands)
Shi, Jiajun J; Zhang, Ben B; Choi, Ji-Yeob JY; Gao, Yu-Tang YT; Li, Huaixing H; Lu, Wei W; Long, Jirong J; Kang, Daehee D; Xiang, Yong-Bing YB; Wen, Wanqing W; Park, Sue K SK; Ye, Xingwang X; Noh, Dong-Young DY; Zheng, Ying Y; Wang, Yiqin Y; Chung, Seokang S; Lin, Xu X; Cai, Qiuyin Q; Shu, Xiao-Ou XO
Publication Date: 2016-12

Variant appearance in text: rs2277339
PubMed Link: 27629107
Variant Present in the following documents:
  • Main text
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: PRIM1: D5A
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
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: rs2277339
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Nature Genetics
Day, Felix R FR; Ruth, Katherine S KS; Thompson, Deborah J DJ; Lunetta, Kathryn L KL; Pervjakova, Natalia N; Chasman, Daniel I DI; Stolk, Lisette L; Finucane, Hilary K HK; Sulem, Patrick P; Bulik-Sullivan, Brendan B; Esko, Tõnu T; Johnson, Andrew D AD; Elks, Cathy E CE; Franceschini, Nora N; He, Chunyan C; Altmaier, Elisabeth E; Brody, Jennifer A JA; Franke, Lude L LL; Huffman, Jennifer E JE; Keller, Margaux F MF; McArdle, Patrick F PF; Nutile, Teresa T; Porcu, Eleonora E; Robino, Antonietta A; Rose, Lynda M LM; Schick, Ursula M UM; Smith, Jennifer A JA; Teumer, Alexander A; Traglia, Michela M; Vuckovic, Dragana D; Yao, Jie J; Zhao, Wei W; Albrecht, Eva E; Amin, Najaf N; Corre, Tanguy T; Hottenga, Jouke-Jan JJ; Mangino, Massimo M; Smith, Albert V AV; Tanaka, Toshiko T; Abecasis, Goncalo G; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antoniou, Antonis C AC; Arndt, Volker V; Arnold, Alice M AM; Barbieri, Caterina C; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bernstein, Leslie L; Bielinski, Suzette J SJ; Blomqvist, Carl C; Boerwinkle, Eric E; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Boutin, Thibaud S TS; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Campbell, Archie A; Campbell, Harry H; Chanock, Stephen J SJ; Chapman, J Ross JR; Chen, Yii-Der Ida YI; Chenevix-Trench, Georgia G; Couch, Fergus J FJ; Coviello, Andrea D AD; Cox, Angela A; Czene, Kamila K; Darabi, Hatef H; De Vivo, Immaculata I; Demerath, Ellen W EW; Dennis, Joe J; Devilee, Peter P; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Eicher, John D JD; Fasching, Peter A PA; Faul, Jessica D JD; Figueroa, Jonine J; Flesch-Janys, Dieter D; Gandin, Ilaria I; Garcia, Melissa E ME; García-Closas, Montserrat M; Giles, Graham G GG; Girotto, Giorgia G GG; Goldberg, Mark S MS; González-Neira, Anna A; Goodarzi, Mark O MO; Grove, Megan L ML; Gudbjartsson, Daniel F DF; Guénel, Pascal P; Guo, Xiuqing X; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Henderson, Brian E BE; Hocking, Lynne J LJ; Hofman, Albert A; Homuth, Georg G; Hooning, Maartje J MJ; Hopper, John L JL; Hu, Frank B FB; Huang, Jinyan J; Humphreys, Keith K; Hunter, David J DJ; Jakubowska, Anna A; Jones, Samuel E SE; Kabisch, Maria M; Karasik, David D; Knight, Julia A JA; Kolcic, Ivana I; Kooperberg, Charles C; Kosma, Veli-Matti VM; Kriebel, Jennifer J; Kristensen, Vessela V; Lambrechts, Diether D; Langenberg, Claudia C; Li, Jingmei J; Li, Xin X; Lindström, Sara S; Liu, Yongmei Y; Luan, Jian'an J; Lubinski, Jan J; Mägi, Reedik R; Mannermaa, Arto A; Manz, Judith J; Margolin, Sara S; Marten, Jonathan J; Martin, Nicholas G NG; Masciullo, Corrado C; Meindl, Alfons A; Michailidou, Kyriaki K; Mihailov, Evelin E; Milani, Lili L; Milne, Roger L RL; Müller-Nurasyid, Martina M; Nalls, Michael M; Neale, Ben M BM; Nevanlinna, Heli H; Neven, Patrick P; Newman, Anne B AB; Nordestgaard, Børge G BG; Olson, Janet E JE; Padmanabhan, Sandosh S; Peterlongo, Paolo P; Peters, Ulrike U; Petersmann, Astrid A; Peto, Julian J; Pharoah, Paul D P PDP; Pirastu, Nicola N NN; Pirie, Ailith A; Pistis, Giorgio G; Polasek, Ozren O; Porteous, David D; Psaty, Bruce M BM; Pylkäs, Katri K; Radice, Paolo P; Raffel, Leslie J LJ; Rivadeneira, Fernando F; Rudan, Igor I; Rudolph, Anja A; Ruggiero, Daniela D; Sala, Cinzia F CF; Sanna, Serena S; Sawyer, Elinor J EJ; Schlessinger, David D; Schmidt, Marjanka K MK; Schmidt, Frank F; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Scott, Robert A RA; Seynaeve, Caroline M CM; Simard, Jacques J; Sorice, Rossella R; Southey, Melissa C MC; Stöckl, Doris D; Strauch, Konstantin K; Swerdlow, Anthony A; Taylor, Kent D KD; Thorsteinsdottir, Unnur U; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; Tryggvadottir, Laufey L; Turner, Stephen T ST; Vozzi, Diego D; Wang, Qin Q; Wellons, Melissa M; Willemsen, Gonneke G; Wilson, James F JF; Winqvist, Robert R; Wolffenbuttel, Bruce B H R BBHR; Wright, Alan F AF; Yannoukakos, Drakoulis D; Zemunik, Tatijana T; Zheng, Wei W; Zygmunt, Marek M; Bergmann, Sven S; Boomsma, Dorret I DI; Buring, Julie E JE; Ferrucci, Luigi L; Montgomery, Grant W GW; Gudnason, Vilmundur V; Spector, Tim D TD; van Duijn, Cornelia M CM; Alizadeh, Behrooz Z BZ; Ciullo, Marina M; Crisponi, Laura L; Easton, Douglas F DF; Gasparini, Paolo P PP; Gieger, Christian C; Harris, Tamara B TB; Hayward, Caroline C; Kardia, Sharon L R SLR; Kraft, Peter P; McKnight, Barbara B; Metspalu, Andres A; Morrison, Alanna C AC; Reiner, Alex P AP; Ridker, Paul M PM; Rotter, Jerome I JI; Toniolo, Daniela D; Uitterlinden, André G AG; Ulivi, Sheila S; Völzke, Henry H; Wareham, Nicholas J NJ; Weir, David R DR; Yerges-Armstrong, Laura M LM; , ; , ; , ; , ; , ; , ; Price, Alkes L AL; Stefansson, Kari K; Visser, Jenny A JA; Ong, Ken K KK; Chang-Claude, Jenny J; Murabito, Joanne M JM; Perry, John R B JRB; Murray, Anna A
Publication Date: 2015-11

Variant appearance in text: rs2277339
PubMed Link: 26414677
Variant Present in the following documents:
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Gene variants associated with age at menopause are also associated with polycystic ovary syndrome, gonadotrophins and ovarian volume.

Human Reproduction (Oxford, England)
Saxena, R R; Bjonnes, A C AC; Georgopoulos, N A NA; Koika, V V; Panidis, D D; Welt, C K CK
Publication Date: 2015-07

Variant appearance in text: rs2277339
PubMed Link: 25994816
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  • Main text
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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: PRIM1: D5A; rs2277339
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
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Environmental and genetic contributors to salivary testosterone levels in infants.

Frontiers In Endocrinology
Xia, Kai K; Yu, Yang Y; Ahn, Mihye M; Zhu, Hongtu H; Zou, Fei F; Gilmore, John H JH; Knickmeyer, Rebecca C RC
Publication Date: 2014

Variant appearance in text: rs2277339
PubMed Link: 25400620
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  • Main text
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: PRIM1: D5A; rs2277339
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: PRIM1: D5A; rs2277339
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
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Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.

Nature Communications
Lindström, Sara S; Thompson, Deborah J DJ; Paterson, Andrew D AD; Li, Jingmei J; Gierach, Gretchen L GL; Scott, Christopher C; Stone, Jennifer J; Douglas, Julie A JA; dos-Santos-Silva, Isabel I; Fernandez-Navarro, Pablo P; Verghase, Jajini J; Smith, Paula P; Brown, Judith J; Luben, Robert R; Wareham, Nicholas J NJ; Loos, Ruth J F RJ; Heit, John A JA; Pankratz, V Shane VS; Norman, Aaron A; Goode, Ellen L EL; Cunningham, Julie M JM; deAndrade, Mariza M; Vierkant, Robert A RA; Czene, Kamila K; Fasching, Peter A PA; Baglietto, Laura L; Southey, Melissa C MC; Giles, Graham G GG; Shah, Kaanan P KP; Chan, Heang-Ping HP; Helvie, Mark A MA; Beck, Andrew H AH; Knoblauch, Nicholas W NW; Hazra, Aditi A; Hunter, David J DJ; Kraft, Peter P; Pollan, Marina M; Figueroa, Jonine D JD; Couch, Fergus J FJ; Hopper, John L JL; Hall, Per P; Easton, Douglas F DF; Boyd, Norman F NF; Vachon, Celine M CM; Tamimi, Rulla M RM
Publication Date: 2014-10-24

Variant appearance in text: rs2277339
PubMed Link: 25342443
Variant Present in the following documents:
  • NIHMS629503-supplement-1.pdf
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Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.

Frontiers In Genetics
Allen, Emily G EG; Grus, Wendy E WE; Narayan, Sarayu S; Espinel, Whitney W; Sherman, Stephanie L SL
Publication Date: 2014

Variant appearance in text: rs2277339
PubMed Link: 25147555
Variant Present in the following documents:
  • Main text
  • fgene-05-00260.pdf
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Meta-analysis of loci associated with age at natural menopause in African-American women.

Human Molecular Genetics
Chen, Christina T L CT; Liu, Ching-Ti CT; Chen, Gary K GK; Andrews, Jeanette S JS; Arnold, Alice M AM; Dreyfus, Jill J; Franceschini, Nora N; Garcia, Melissa E ME; Kerr, Kathleen F KF; Li, Guo G; Lohman, Kurt K KK; Musani, Solomon K SK; Nalls, Michael A MA; Raffel, Leslie J LJ; Smith, Jennifer J; Ambrosone, Christine B CB; Bandera, Elisa V EV; Bernstein, Leslie L; Britton, Angela A; Brzyski, Robert G RG; Cappola, Anne A; Carlson, Christopher S CS; Couper, David D; Deming, Sandra L SL; Goodarzi, Mark O MO; Heiss, Gerardo G; John, Esther M EM; Lu, Xiaoning X; Le Marchand, Loic L; Marciante, Kristin K; Mcknight, Barbara B; Millikan, Robert R; Nock, Nora L NL; Olshan, Andrew F AF; Press, Michael F MF; Vaiyda, Dhananjay D; Woods, Nancy F NF; Taylor, Herman A HA; Zhao, Wei W; Zheng, Wei W; Evans, Michele K MK; Harris, Tamara B TB; Henderson, Brian E BE; Kardia, Sharon L R SL; Kooperberg, Charles C; Liu, Yongmei Y; Mosley, Thomas H TH; Psaty, Bruce B; Wellons, Melissa M; Windham, Beverly G BG; Zonderman, Alan B AB; Cupples, L Adrienne LA; Demerath, Ellen W EW; Haiman, Christopher C; Murabito, Joanne M JM; Rajkovic, Aleksandar A
Publication Date: 2014-06-15

Variant appearance in text: rs2277339
PubMed Link: 24493794
Variant Present in the following documents:
  • Main text
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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs2277339
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
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Genomic markers of ovarian reserve.

Seminars In Reproductive Medicine
Wood, Michelle A MA; Rajkovic, Aleksandar A
Publication Date: 2013-11

Variant appearance in text: rs2277339
PubMed Link: 24101221
Variant Present in the following documents:
  • Main text
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Evaluating GWAS-identified SNPs for age at natural menopause among chinese women.

Plos One
Shen, Chong C; Delahanty, Ryan J RJ; Gao, Yu-Tang YT; Lu, Wei W; Xiang, Yong-Bing YB; Zheng, Ying Y; Cai, Qiuyin Q; Zheng, Wei W; Shu, Xiao-Ou XO; Long, Jirong J
Publication Date: 2013

Variant appearance in text: rs2277339
PubMed Link: 23536822
Variant Present in the following documents:
  • Main text
  • pone.0058766.pdf
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Reproductive aging-associated common genetic variants and the risk of breast cancer.

Breast Cancer Research : Bcr
He, Chunyan C; Chasman, Daniel I DI; Dreyfus, Jill J; Hwang, Shih-Jen SJ; Ruiter, Rikje R; Sanna, Serena S; Buring, Julie E JE; Fernández-Rhodes, Lindsay L; Franceschini, Nora N; Hankinson, Susan E SE; Hofman, Albert A; Lunetta, Kathryn L KL; Palmieri, Giuseppe G; Porcu, Eleonora E; Rivadeneira, Fernando F; Rose, Lynda M LM; Splansky, Greta L GL; Stolk, Lisette L; Uitterlinden, André G AG; Chanock, Stephen J SJ; Crisponi, Laura L; Demerath, Ellen W EW; Murabito, Joanne M JM; Ridker, Paul M PM; Stricker, Bruno H BH; Hunter, David J DJ
Publication Date: 2012-03-20

Variant appearance in text: rs2277339
PubMed Link: 22433456
Variant Present in the following documents:
  • Main text
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

Nature Genetics
Stolk, Lisette L; Perry, John R B JR; Chasman, Daniel I DI; He, Chunyan C; Mangino, Massimo M; Sulem, Patrick P; Barbalic, Maja M; Broer, Linda L; Byrne, Enda M EM; Ernst, Florian F; Esko, Tõnu T; Franceschini, Nora N; Gudbjartsson, Daniel F DF; Hottenga, Jouke-Jan JJ; Kraft, Peter P; McArdle, Patrick F PF; Porcu, Eleonora E; Shin, So-Youn SY; Smith, Albert V AV; van Wingerden, Sophie S; Zhai, Guangju G; Zhuang, Wei V WV; Albrecht, Eva E; Alizadeh, Behrooz Z BZ; Aspelund, Thor T; Bandinelli, Stefania S; Lauc, Lovorka Barac LB; Beckmann, Jacques S JS; Boban, Mladen M; Boerwinkle, Eric E; Broekmans, Frank J FJ; Burri, Andrea A; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Constance C; Cornelis, Marilyn C MC; Corre, Tanguy T; Coviello, Andrea D AD; d'Adamo, Pio P; Davies, Gail G; de Faire, Ulf U; de Geus, Eco J C EJ; Deary, Ian J IJ; Dedoussis, George V Z GV; Deloukas, Panagiotis P; Ebrahim, Shah S; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan G JG; Fauser, Bart C J M BC; Ferreli, Liana L; Ferrucci, Luigi L; Fischer, Krista K; Folsom, Aaron R AR; Garcia, Melissa E ME; Gasparini, Paolo P; Gieger, Christian C; Glazer, Nicole N; Grobbee, Diederick E DE; Hall, Per P; Haller, Toomas T; Hankinson, Susan E SE; Hass, Merli M; Hayward, Caroline C; Heath, Andrew C AC; Hofman, Albert A; Ingelsson, Erik E; Janssens, A Cecile J W AC; Johnson, Andrew D AD; Karasik, David D; Kardia, Sharon L R SL; Keyzer, Jules J; Kiel, Douglas P DP; Kolcic, Ivana I; Kutalik, Zoltán Z; Lahti, Jari J; Lai, Sandra S; Laisk, Triin T; Laven, Joop S E JS; Lawlor, Debbie A DA; Liu, Jianjun J; Lopez, Lorna M LM; Louwers, Yvonne V YV; Magnusson, Patrik K E PK; Marongiu, Mara M; Martin, Nicholas G NG; Klaric, Irena Martinovic IM; Masciullo, Corrado C; McKnight, Barbara B; Medland, Sarah E SE; Melzer, David D; Mooser, Vincent V; Navarro, Pau P; Newman, Anne B AB; Nyholt, Dale R DR; Onland-Moret, N Charlotte NC; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peeters, Petra H M PH; Pistis, Giorgio G; Plump, Andrew S AS; Polasek, Ozren O; Pop, Victor J M VJ; Psaty, Bruce M BM; Räikkönen, Katri K; Rehnberg, Emil E; Rotter, Jerome I JI; Rudan, Igor I; Sala, Cinzia C; Salumets, Andres A; Scuteri, Angelo A; Singleton, Andrew A; Smith, Jennifer A JA; Snieder, Harold H; Soranzo, Nicole N; Stacey, Simon N SN; Starr, John M JM; Stathopoulou, Maria G MG; Stirrups, Kathleen K; Stolk, Ronald P RP; Styrkarsdottir, Unnur U; Sun, Yan V YV; Tenesa, Albert A; Thorand, Barbara B; Toniolo, Daniela D; Tryggvadottir, Laufey L; Tsui, Kim K; Ulivi, Sheila S; van Dam, Rob M RM; van der Schouw, Yvonne T YT; van Gils, Carla H CH; van Nierop, Peter P; Vink, Jacqueline M JM; Visscher, Peter M PM; Voorhuis, Marlies M; Waeber, Gérard G; Wallaschofski, Henri H; Wichmann, H Erich HE; Widen, Elisabeth E; Wijnands-van Gent, Colette J M CJ; Willemsen, Gonneke G; Wilson, James F JF; Wolffenbuttel, Bruce H R BH; Wright, Alan F AF; Yerges-Armstrong, Laura M LM; Zemunik, Tatijana T; Zgaga, Lina L; Zillikens, M Carola MC; Zygmunt, Marek M; , ; Arnold, Alice M AM; Boomsma, Dorret I DI; Buring, Julie E JE; Crisponi, Laura L; Demerath, Ellen W EW; Gudnason, Vilmundur V; Harris, Tamara B TB; Hu, Frank B FB; Hunter, David J DJ; Launer, Lenore J LJ; Metspalu, Andres A; Montgomery, Grant W GW; Oostra, Ben A BA; Ridker, Paul M PM; Sanna, Serena S; Schlessinger, David D; Spector, Tim D TD; Stefansson, Kari K; Streeten, Elizabeth A EA; Thorsteinsdottir, Unnur U; Uda, Manuela M; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Völzke, Henry H; Murray, Anna A; Murabito, Joanne M JM; Visser, Jenny A JA; Lunetta, Kathryn L KL
Publication Date: 2012-01-22

Variant appearance in text: rs2277339
PubMed Link: 22267201
Variant Present in the following documents:
  • Main text
  • nihms342040.pdf
  • NIHMS342040-supplement-1.pdf
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Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene.

The Journal Of Clinical Endocrinology And Metabolism
Jones, Michelle R MR; Mathur, Ruchi R; Cui, Jinrui J; Guo, Xiuqing X; Azziz, Ricardo R; Goodarzi, Mark O MO
Publication Date: 2009-12

Variant appearance in text: rs2277339
PubMed Link: 19837928
Variant Present in the following documents:
  • Main text
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Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

Human Reproduction Update
Simoni, M M; Tempfer, C B CB; Destenaves, B B; Fauser, B C J M BC
Publication Date: 2008

Variant appearance in text: rs2277339
PubMed Link: 18603647
Variant Present in the following documents:
  • Main text
  • dmn024.pdf
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