STN1 c.451A>T ;(p.T151S)

Variant ID: 10-105659826-T-A

NM_024928.4(STN1):c.451A>T;(p.T151S)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Clinical characteristics and genetic analysis of a Chinese pedigree of type 2 diabetes complicated with interstitial lung disease.

Frontiers In Endocrinology
Zhang, Qinghua Q; Wang, Yan Y; Tian, Chang C; Yu, Jinyan J; Li, Yanlei Y; Yang, Junling J
Publication Date: 2022

Variant appearance in text: rs2487999
PubMed Link: 36733806
Variant Present in the following documents:
  • Main text
  • fendo-13-1050200.pdf
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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2487999
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Loneliness, Depression, and Genetics in the Elderly: Prognostic Factors of a Worse Health Condition?

International Journal Of Environmental Research And Public Health
Delgado-Losada, María Luisa ML; Bouhaben, Jaime J; Arroyo-Pardo, Eduardo E; Aparicio, Aránzazu A; López-Parra, Ana María AM
Publication Date: 2022-11-22

Variant appearance in text: rs2487999
PubMed Link: 36497531
Variant Present in the following documents:
  • Main text
  • ijerph-19-15456.pdf
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Prediction of telomere length and telomere attrition using a genetic risk score: The multi-ethnic study of atherosclerosis (MESA).

Frontiers In Aging
Castro-Diehl, Cecilia C; Smith, Jennifer A JA; Zhao, Wei W; Wang, Xu X; Mukherjee, Bhramar B; Seeman, Teresa T; Needham, Belinda L BL
Publication Date: 2022

Variant appearance in text: rs2487999
PubMed Link: 36304436
Variant Present in the following documents:
  • Main text
  • fragi-03-1021051.pdf
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Leukocyte telomere length, allelic variations in related genes and risk of coronary heart disease in people with long-standing type 1 diabetes.

Cardiovascular Diabetology
Sanchez, Manuel M; Kannengiesser, Caroline C; Hoang, Sophie S; Potier, Louis L; Fumeron, Frédéric F; Venteclef, Nicolas N; Scheen, André A; Gautier, Jean-François JF; Hadjadj, Samy S; Marre, Michel M; Roussel, Ronan R; Mohammedi, Kamel K; Velho, Gilberto G
Publication Date: 2022-10-11

Variant appearance in text: rs2487999
PubMed Link: 36221106
Variant Present in the following documents:
  • Main text
  • 12933_2022_Article_1635.pdf
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Individual Differences in Relative Telomere Length in Mentally Healthy Subjects: The Effect of TERT Gene Polymorphism and Urban Residency.

Russian Journal Of Genetics
Kazantseva, A V AV; Davydova, Yu D YD; Enikeeva, R F RF; Mustafin, R N RN; Lobaskova, M M MM; Malykh, S B SB; Khusnutdinova, E K EK
Publication Date: 2022

Variant appearance in text: rs2487999
PubMed Link: 36119151
Variant Present in the following documents:
  • Main text
  • 11177_2022_Article_1662.pdf
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Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.

Cell Genomics
Taub, Margaret A MA; Conomos, Matthew P MP; Keener, Rebecca R; Iyer, Kruthika R KR; Weinstock, Joshua S JS; Yanek, Lisa R LR; Lane, John J; Miller-Fleming, Tyne W TW; Brody, Jennifer A JA; Raffield, Laura M LM; McHugh, Caitlin P CP; Jain, Deepti D; Gogarten, Stephanie M SM; Laurie, Cecelia A CA; Keramati, Ali A; Arvanitis, Marios M; Smith, Albert V AV; Heavner, Benjamin B; Barwick, Lucas L; Becker, Lewis C LC; Bis, Joshua C JC; Blangero, John J; Bleecker, Eugene R ER; Burchard, Esteban G EG; Celedón, Juan C JC; Chang, Yen Pei C YPC; Custer, Brian B; Darbar, Dawood D; de Las Fuentes, Lisa L; DeMeo, Dawn L DL; Freedman, Barry I BI; Garrett, Melanie E ME; Gladwin, Mark T MT; Heckbert, Susan R SR; Hidalgo, Bertha A BA; Irvin, Marguerite R MR; Islam, Talat T; Johnson, W Craig WC; Kaab, Stefan S; Launer, Lenore L; Lee, Jiwon J; Liu, Simin S; Moscati, Arden A; North, Kari E KE; Peyser, Patricia A PA; Rafaels, Nicholas N; Seidman, Christine C; Weeks, Daniel E DE; Wen, Fayun F; Wheeler, Marsha M MM; Williams, L Keoki LK; Yang, Ivana V IV; Zhao, Wei W; Aslibekyan, Stella S; Auer, Paul L PL; Bowden, Donald W DW; Cade, Brian E BE; Chen, Zhanghua Z; Cho, Michael H MH; Cupples, L Adrienne LA; Curran, Joanne E JE; Daya, Michelle M; Deka, Ranjan R; Eng, Celeste C; Fingerlin, Tasha E TE; Guo, Xiuqing X; Hou, Lifang L; Hwang, Shih-Jen SJ; Johnsen, Jill M JM; Kenny, Eimear E EE; Levin, Albert M AM; Liu, Chunyu C; Minster, Ryan L RL; Naseri, Take T; Nouraie, Mehdi M; Reupena, Muagututi'a Sefuiva MS; Sabino, Ester C EC; Smith, Jennifer A JA; Smith, Nicholas L NL; Su, Jessica Lasky JL; Taylor, James G JG; Telen, Marilyn J MJ; Tiwari, Hemant K HK; Tracy, Russell P RP; White, Marquitta J MJ; Zhang, Yingze Y; Wiggins, Kerri L KL; Weiss, Scott T ST; Vasan, Ramachandran S RS; Taylor, Kent D KD; Sinner, Moritz F MF; Silverman, Edwin K EK; Shoemaker, M Benjamin MB; Sheu, Wayne H-H WH; Sciurba, Frank F; Schwartz, David A DA; Rotter, Jerome I JI; Roden, Daniel D; Redline, Susan S; Raby, Benjamin A BA; Psaty, Bruce M BM; Peralta, Juan M JM; Palmer, Nicholette D ND; Nekhai, Sergei S; Montgomery, Courtney G CG; Mitchell, Braxton D BD; Meyers, Deborah A DA; McGarvey, Stephen T ST; , ; Mak, Angel Cy AC; Loos, Ruth Jf RJ; Kumar, Rajesh R; Kooperberg, Charles C; Konkle, Barbara A BA; Kelly, Shannon S; Kardia, Sharon Lr SL; Kaplan, Robert R; He, Jiang J; Gui, Hongsheng H; Gilliland, Frank D FD; Gelb, Bruce D BD; Fornage, Myriam M; Ellinor, Patrick T PT; de Andrade, Mariza M; Correa, Adolfo A; Chen, Yii-Der Ida YI; Boerwinkle, Eric E; Barnes, Kathleen C KC; Ashley-Koch, Allison E AE; Arnett, Donna K DK; , ; , ; , ; Laurie, Cathy C CC; Abecasis, Goncalo G; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Levy, Daniel D; Ruczinski, Ingo I; Aviv, Abraham A; Blackwell, Thomas W TW; Thornton, Timothy T; O'Connell, Jeff J; Cox, Nancy J NJ; Perry, James A JA; Armanios, Mary M; Battle, Alexis A; Pankratz, Nathan N; Reiner, Alexander P AP; Mathias, Rasika A RA
Publication Date: 2022-01-12

Variant appearance in text: rs2487999
PubMed Link: 35530816
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
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Are long telomeres better than short? Relative contributions of genetically predicted telomere length to neoplastic and non-neoplastic disease risk and population health burden.

Plos One
Protsenko, Ekaterina E; Rehkopf, David D; Prather, Aric A AA; Epel, Elissa E; Lin, Jue J
Publication Date: 2020

Variant appearance in text: rs2487999
PubMed Link: 33031470
Variant Present in the following documents:
  • Main text
  • pone.0240185.pdf
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Identification of Leukocyte telomere length-related genetic variants contributing to predisposition of Esophageal Squamous Cell Carcinoma.

Journal Of Cancer
Li, Ziqiang Z; Song, Yemei Y; Xu, Yeyang Y; Shen, Yue Y; Zhang, Nasha N; Yang, Ming M; Yu, Dianke D
Publication Date: 2020

Variant appearance in text: rs2487999
PubMed Link: 32742450
Variant Present in the following documents:
  • Main text
  • jcav11p5025.pdf
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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: rs2487999
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Leukocyte Telomere Length and Its Interaction with Germline Variation in Telomere-Related Genes in Relation to Pancreatic Adenocarcinoma Risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Antwi, Samuel O SO; Bamlet, William R WR; Rabe, Kari G KG; Cawthon, Richard M RM; Umudi, Isoken I; Druliner, Brooke R BR; Sicotte, Hugues H; Oberg, Ann L AL; Jatoi, Aminah A; Boardman, Lisa A LA; Petersen, Gloria M GM
Publication Date: 2020-07

Variant appearance in text: rs2487999
PubMed Link: 32312758
Variant Present in the following documents:
  • Main text
View BVdb publication page



Telomeres and Telomere Length: A General Overview.

Cancers
Srinivas, Nalini N; Rachakonda, Sivaramakrishna S; Kumar, Rajiv R
Publication Date: 2020-02-28

Variant appearance in text: rs2487999
PubMed Link: 32121056
Variant Present in the following documents:
  • Main text
  • cancers-12-00558.pdf
View BVdb publication page



Expression of telomerase reverse transcriptase positively correlates with duration of lithium treatment in bipolar disorder.

Psychiatry Research
Lundberg, Martin M; Biernacka, Joanna M JM; Lavebratt, Catharina C; Druliner, Brooke B; Ryu, Euijung E; Geske, Jennifer J; Colby, Colin C; Boardman, Lisa L; Frye, Mark M; Schalling, Martin M
Publication Date: 2020-04

Variant appearance in text: rs2487999
PubMed Link: 32114208
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA methylation-based estimator of telomere length.

Aging
Lu, Ake T AT; Seeboth, Anne A; Tsai, Pei-Chien PC; Sun, Dianjianyi D; Quach, Austin A; Reiner, Alex P AP; Kooperberg, Charles C; Ferrucci, Luigi L; Hou, Lifang L; Baccarelli, Andrea A AA; Li, Yun Y; Harris, Sarah E SE; Corley, Janie J; Taylor, Adele A; Deary, Ian J IJ; Stewart, James D JD; Whitsel, Eric A EA; Assimes, Themistocles L TL; Chen, Wei W; Li, Shengxu S; Mangino, Massimo M; Bell, Jordana T JT; Wilson, James G JG; Aviv, Abraham A; Marioni, Riccardo E RE; Raj, Kenneth K; Horvath, Steve S
Publication Date: 2019-08-18

Variant appearance in text: rs2487999
PubMed Link: 31422385
Variant Present in the following documents:
  • aging-11-102173-s010.pdf
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: rs2487999
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



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: rs2487999
PubMed Link: 29890168
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
View BVdb publication page



GWAS of epigenetic aging rates in blood reveals a critical role for TERT.

Nature Communications
Lu, Ake T AT; Xue, Luting L; Salfati, Elias L EL; Chen, Brian H BH; Ferrucci, Luigi L; Levy, Daniel D; Joehanes, Roby R; Murabito, Joanne M JM; Kiel, Douglas P DP; Tsai, Pei-Chien PC; Yet, Idil I; Bell, Jordana T JT; Mangino, Massimo M; Tanaka, Toshiko T; McRae, Allan F AF; Marioni, Riccardo E RE; Visscher, Peter M PM; Wray, Naomi R NR; Deary, Ian J IJ; Levine, Morgan E ME; Quach, Austin A; Assimes, Themistocles T; Tsao, Philip S PS; Absher, Devin D; Stewart, James D JD; Li, Yun Y; Reiner, Alex P AP; Hou, Lifang L; Baccarelli, Andrea A AA; Whitsel, Eric A EA; Aviv, Abraham A; Cardona, Alexia A; Day, Felix R FR; Wareham, Nicholas J NJ; Perry, John R B JRB; Ong, Ken K KK; Raj, Kenneth K; Lunetta, Kathryn L KL; Horvath, Steve S
Publication Date: 2018-01-26

Variant appearance in text: rs2487999
PubMed Link: 29374233
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_2697.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: rs2487999
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Shorter leukocyte telomere length is associated with higher risk of infections: a prospective study of 75,309 individuals from the general population.

Haematologica
Helby, Jens J; Nordestgaard, Børge G BG; Benfield, Thomas T; Bojesen, Stig E SE
Publication Date: 2017-08

Variant appearance in text: rs2487999
PubMed Link: 28522577
Variant Present in the following documents:
  • Main text
  • 1021457.pdf
  • 2016.161943.HELBY_SUPPL.pdf
View BVdb publication page



Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Nature Genetics
Phelan, Catherine M CM; Kuchenbaecker, Karoline B KB; Tyrer, Jonathan P JP; Kar, Siddhartha P SP; Lawrenson, Kate K; Winham, Stacey J SJ; Dennis, Joe J; Pirie, Ailith A; Riggan, Marjorie J MJ; Chornokur, Ganna G; Earp, Madalene A MA; Lyra, Paulo C PC; Lee, Janet M JM; Coetzee, Simon S; Beesley, Jonathan J; McGuffog, Lesley L; Soucy, Penny P; Dicks, Ed E; Lee, Andrew A; Barrowdale, Daniel D; Lecarpentier, Julie J; Leslie, Goska G; Aalfs, Cora M CM; Aben, Katja K H KKH; Adams, Marcia M; Adlard, Julian J; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N; , ; Aravantinos, Gerasimos G; Arnold, Norbert N; Arun, Banu K BK; Arver, Brita B; Azzollini, Jacopo J; Balmaña, Judith J; Banerjee, Susana N SN; Barjhoux, Laure L; Barkardottir, Rosa B RB; Bean, Yukie Y; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Bernardini, Marcus Q MQ; Birrer, Michael J MJ; Bjorge, Line L; Black, Amanda A; Blankstein, Kenneth K; Blok, Marinus J MJ; Bodelon, Clara C; Bogdanova, Natalia N; Bojesen, Anders A; Bonanni, Bernardo B; Borg, Åke Å; Bradbury, Angela R AR; Brenton, James D JD; Brewer, Carole C; Brinton, Louise L; Broberg, Per P; Brooks-Wilson, Angela A; Bruinsma, Fiona F; Brunet, Joan J; Buecher, Bruno B; Butzow, Ralf R; Buys, Saundra S SS; Caldes, Trinidad T; Caligo, Maria A MA; Campbell, Ian I; Cannioto, Rikki R; Carney, Michael E ME; Cescon, Terence T; Chan, Salina B SB; Chang-Claude, Jenny J; Chanock, Stephen S; Chen, Xiao Qing XQ; Chiew, Yoke-Eng YE; Chiquette, Jocelyne J; Chung, Wendy K WK; Claes, Kathleen B M KBM; Conner, Thomas T; Cook, Linda S LS; Cook, Jackie J; Cramer, Daniel W DW; Cunningham, Julie M JM; D'Aloisio, Aimee A AA; Daly, Mary B MB; Damiola, Francesca F; Damirovna, Sakaeva Dina SD; Dansonka-Mieszkowska, Agnieszka A; Dao, Fanny F; Davidson, Rosemarie R; DeFazio, Anna A; Delnatte, Capucine C; Doheny, Kimberly F KF; Diez, Orland O; Ding, Yuan Chun YC; Doherty, Jennifer Anne JA; Domchek, Susan M SM; Dorfling, Cecilia M CM; Dörk, Thilo T; Dossus, Laure L; Duran, Mercedes M; Dürst, Matthias M; Dworniczak, Bernd B; Eccles, Diana D; Edwards, Todd T; Eeles, Ros R; Eilber, Ursula U; Ejlertsen, Bent B; Ekici, Arif B AB; Ellis, Steve S; Elvira, Mingajeva M; , ; Eng, Kevin H KH; Engel, Christoph C; Evans, D Gareth DG; Fasching, Peter A PA; Ferguson, Sarah S; Ferrer, Sandra Fert SF; Flanagan, James M JM; Fogarty, Zachary C ZC; Fortner, Renée T RT; Fostira, Florentia F; Foulkes, William D WD; Fountzilas, George G; Fridley, Brooke L BL; Friebel, Tara M TM; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; García, María J MJ; Garcia-Barberan, Vanesa V; Gehrig, Andrea A; , ; Gentry-Maharaj, Aleksandra A; Gerdes, Anne-Marie AM; Giles, Graham G GG; Glasspool, Rosalind R; Glendon, Gord G; Godwin, Andrew K AK; Goldgar, David E DE; Goranova, Teodora T; Gore, Martin M; Greene, Mark H MH; Gronwald, Jacek J; Gruber, Stephen S; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hamann, Ute U; Hansen, Thomas V O TVO; Harrington, Patricia A PA; Harris, Holly R HR; Hauke, Jan J; , ; Hein, Alexander A; Henderson, Alex A; Hildebrandt, Michelle A T MAT; Hillemanns, Peter P; Hodgson, Shirley S; Høgdall, Claus K CK; Høgdall, Estrid E; Hogervorst, Frans B L FBL; Holland, Helene H; Hooning, Maartje J MJ; Hosking, Karen K; Huang, Ruea-Yea RY; Hulick, Peter J PJ; Hung, Jillian J; Hunter, David J DJ; Huntsman, David G DG; Huzarski, Tomasz T; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Iversen, Edwin S ES; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Jernetz, Mats M; Jensen, Allan A; Jensen, Uffe Birk UB; John, Esther M EM; Johnatty, Sharon S; Jones, Michael E ME; Kannisto, Päivi P; Karlan, Beth Y BY; Karnezis, Anthony A; Kast, Karin K; , ; Kennedy, Catherine J CJ; Khusnutdinova, Elza E; Kiemeney, Lambertus A LA; Kiiski, Johanna I JI; Kim, Sung-Won SW; Kjaer, Susanne K SK; Köbel, Martin M; Kopperud, Reidun K RK; Kruse, Torben A TA; Kupryjanczyk, Jolanta J; Kwong, Ava A; Laitman, Yael Y; Lambrechts, Diether D; Larrañaga, Nerea N; Larson, Melissa C MC; Lazaro, Conxi C; Le, Nhu D ND; Le Marchand, Loic L; Lee, Jong Won JW; Lele, Shashikant B SB; Leminen, Arto A; Leroux, Dominique D; Lester, Jenny J; Lesueur, Fabienne F; Levine, Douglas A DA; Liang, Dong D; Liebrich, Clemens C; Lilyquist, Jenna J; Lipworth, Loren L; Lissowska, Jolanta J; Lu, Karen H KH; Lubinński, Jan J; Luccarini, Craig C; Lundvall, Lene L; Mai, Phuong L PL; Mendoza-Fandiño, Gustavo G; Manoukian, Siranoush S; Massuger, Leon F A G LFAG; May, Taymaa T; Mazoyer, Sylvie S; McAlpine, Jessica N JN; McGuire, Valerie V; McLaughlin, John R JR; McNeish, Iain I; Meijers-Heijboer, Hanne H; Meindl, Alfons A; Menon, Usha U; Mensenkamp, Arjen R AR; Merritt, Melissa A MA; Milne, Roger L RL; Mitchell, Gillian G; Modugno, Francesmary F; Moes-Sosnowska, Joanna J; Moffitt, Melissa M; Montagna, Marco M; Moysich, Kirsten B KB; Mulligan, Anna Marie AM; Musinsky, Jacob J; Nathanson, Katherine L KL; Nedergaard, Lotte L; Ness, Roberta B RB; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nussbaum, Robert L RL; Odunsi, Kunle K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Olswold, Curtis C; O'Malley, David M DM; Ong, Kai-Ren KR; Onland-Moret, N Charlotte NC; , ; Orr, Nicholas N; Orsulic, Sandra S; Osorio, Ana A; Palli, Domenico D; Papi, Laura L; Park-Simon, Tjoung-Won TW; Paul, James J; Pearce, Celeste L CL; Pedersen, Inge Søkilde IS; Peeters, Petra H M PHM; Peissel, Bernard B; Peixoto, Ana A; Pejovic, Tanja T; Pelttari, Liisa M LM; Permuth, Jennifer B JB; Peterlongo, Paolo P; Pezzani, Lidia L; Pfeiler, Georg G; Phillips, Kelly-Anne KA; Piedmonte, Marion M; Pike, Malcolm C MC; Piskorz, Anna M AM; Poblete, Samantha R SR; Pocza, Timea T; Poole, Elizabeth M EM; Poppe, Bruce B; Porteous, Mary E ME; Prieur, Fabienne F; Prokofyeva, Darya D; Pugh, Elizabeth E; Pujana, Miquel Angel MA; Pujol, Pascal P; Radice, Paolo P; Rantala, Johanna J; Rappaport-Fuerhauser, Christine C; Rennert, Gad G; Rhiem, Kerstin K; Rice, Patricia P; Richardson, Andrea A; Robson, Mark M; Rodriguez, Gustavo C GC; Rodríguez-Antona, Cristina C; Romm, Jane J; Rookus, Matti A MA; Rossing, Mary Anne MA; Rothstein, Joseph H JH; Rudolph, Anja A; Runnebaum, Ingo B IB; Salvesen, Helga B HB; Sandler, Dale P DP; Schoemaker, Minouk J MJ; Senter, Leigha L; Setiawan, V Wendy VW; Severi, Gianluca G; Sharma, Priyanka P; Shelford, Tameka T; Siddiqui, Nadeem N; Side, Lucy E LE; Sieh, Weiva W; Singer, Christian F CF; Sobol, Hagay H; Song, Honglin H; Southey, Melissa C MC; Spurdle, Amanda B AB; Stadler, Zsofia Z; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sucheston-Campbell, Lara E LE; Sukiennicki, Grzegorz G; Sutphen, Rebecca R; Sutter, Christian C; Swerdlow, Anthony J AJ; Szabo, Csilla I CI; Szafron, Lukasz L; Tan, Yen Y YY; Taylor, Jack A JA; Tea, Muy-Kheng MK; Teixeira, Manuel R MR; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Thomsen, Liv Cecilie Vestrheim LCV; Thull, Darcy L DL; Tihomirova, Laima L; Tinker, Anna V AV; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda Ewart AE; Tone, Alicia A; Trabert, Britton B; Travis, Ruth C RC; Trichopoulou, Antonia A; Tung, Nadine N; Tworoger, Shelley S SS; van Altena, Anne M AM; Van Den Berg, David D; van der Hout, Annemarie H AH; van der Luijt, Rob B RB; Van Heetvelde, Mattias M; Van Nieuwenhuysen, Els E; van Rensburg, Elizabeth J EJ; Vanderstichele, Adriaan A; Varon-Mateeva, Raymonda R; Vega, Ana A; Edwards, Digna Velez DV; Vergote, Ignace I; Vierkant, Robert A RA; Vijai, Joseph J; Vratimos, Athanassios A; Walker, Lisa L; Walsh, Christine C; Wand, Dorothea D; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Webb, Penelope M PM; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wentzensen, Nicolas N; Whittemore, Alice S AS; Wijnen, Juul T JT; Wilkens, Lynne R LR; Wolk, Alicja A; Woo, Michelle M; Wu, Xifeng X; Wu, Anna H AH; Yang, Hannah H; Yannoukakos, Drakoulis D; Ziogas, Argyrios A; Zorn, Kristin K KK; Narod, Steven A SA; Easton, Douglas F DF; Amos, Christopher I CI; Schildkraut, Joellen M JM; Ramus, Susan J SJ; Ottini, Laura L; Goodman, Marc T MT; Park, Sue K SK; Kelemen, Linda E LE; Risch, Harvey A HA; Thomassen, Mads M; Offit, Kenneth K; Simard, Jacques J; Schmutzler, Rita Katharina RK; Hazelett, Dennis D; Monteiro, Alvaro N AN; Couch, Fergus J FJ; Berchuck, Andrew A; Chenevix-Trench, Georgia G; Goode, Ellen L EL; Sellers, Thomas A TA; Gayther, Simon A SA; Antoniou, Antonis C AC; Pharoah, Paul D P PDP
Publication Date: 2017-05

Variant appearance in text: rs2487999
PubMed Link: 28346442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

American Journal Of Human Genetics
Chami, Nathalie N; Chen, Ming-Huei MH; Slater, Andrew J AJ; Eicher, John D JD; Evangelou, Evangelos E; Tajuddin, Salman M SM; Love-Gregory, Latisha L; Kacprowski, Tim T; Schick, Ursula M UM; Nomura, Akihiro A; Giri, Ayush A; Lessard, Samuel S; Brody, Jennifer A JA; Schurmann, Claudia C; Pankratz, Nathan N; Yanek, Lisa R LR; Manichaikul, Ani A; Pazoki, Raha R; Mihailov, Evelin E; Hill, W David WD; Raffield, Laura M LM; Burt, Amber A; Bartz, Traci M TM; Becker, Diane M DM; Becker, Lewis C LC; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; O'Donoghue, Michelle L ML; Crosslin, David R DR; de Denus, Simon S; Dubé, Marie-Pierre MP; Elliott, Paul P; Engström, Gunnar G; Evans, Michele K MK; Floyd, James S JS; Fornage, Myriam M; Gao, He H; Greinacher, Andreas A; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hernesniemi, Jussi J; Highland, Heather M HM; Hirschhorn, Joel N JN; Hofman, Albert A; Irvin, Marguerite R MR; Kähönen, Mika M; Lange, Ethan E; Launer, Lenore J LJ; Lehtimäki, Terho T; Li, Jin J; Liewald, David C M DC; Linneberg, Allan A; Liu, Yongmei Y; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; Mägi, Reedik R; Mathias, Rasika A RA; Melander, Olle O; Metspalu, Andres A; Mononen, Nina N; Nalls, Mike A MA; Nickerson, Deborah A DA; Nikus, Kjell K; O'Donnell, Chris J CJ; Orho-Melander, Marju M; Pedersen, Oluf O; Petersmann, Astrid A; Polfus, Linda L; Psaty, Bruce M BM; Raitakari, Olli T OT; Raitoharju, Emma E; Richard, Melissa M; Rice, Kenneth M KM; Rivadeneira, Fernando F; Rotter, Jerome I JI; Schmidt, Frank F; Smith, Albert Vernon AV; Starr, John M JM; Taylor, Kent D KD; Teumer, Alexander A; Thuesen, Betina H BH; Torstenson, Eric S ES; Tracy, Russell P RP; Tzoulaki, Ioanna I; Zakai, Neil A NA; Vacchi-Suzzi, Caterina C; van Duijn, Cornelia M CM; van Rooij, Frank J A FJ; Cushman, Mary M; Deary, Ian J IJ; Velez Edwards, Digna R DR; Vergnaud, Anne-Claire AC; Wallentin, Lars L; Waterworth, Dawn M DM; White, Harvey D HD; Wilson, James G JG; Zonderman, Alan B AB; Kathiresan, Sekar S; Grarup, Niels N; Esko, Tõnu T; Loos, Ruth J F RJ; Lange, Leslie A LA; Faraday, Nauder N; Abumrad, Nada A NA; Edwards, Todd L TL; Ganesh, Santhi K SK; Auer, Paul L PL; Johnson, Andrew D AD; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2016-07-07

Variant appearance in text: rs2487999
PubMed Link: 27346685
Variant Present in the following documents:
  • Main text
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Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer.

Oncotarget
Suraweera, Nirosha N; Mouradov, Dmitri D; Li, Shan S; Jorissen, Robert N RN; Hampson, Debbie D; Ghosh, Anil A; Sengupta, Neel N; Thaha, Mohamed M; Ahmed, Shafi S; Kirwan, Michael M; Aleva, Floor F; Propper, David D; Feakins, Roger M RM; Vulliamy, Tom T; Elwood, Ngaire J NJ; Tian, Pei P; Ward, Robyn L RL; Hawkins, Nicholas J NJ; Xu, Zheng-Zhou ZZ; Molloy, Peter L PL; Jones, Ian T IT; Croxford, Matthew M; Gibbs, Peter P; Silver, Andrew A; Sieber, Oliver M OM
Publication Date: 2016-06-14

Variant appearance in text: rs2487999
PubMed Link: 27167335
Variant Present in the following documents:
  • Main text
  • oncotarget-07-36474.pdf
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2487999
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Cdk1 regulates the temporal recruitment of telomerase and Cdc13-Stn1-Ten1 complex for telomere replication.

Molecular And Cellular Biology
Liu, Chang-Ching CC; Gopalakrishnan, Veena V; Poon, Lai-Fong LF; Yan, TingDong T; Li, Shang S
Publication Date: 2014-01

Variant appearance in text: rs2487999
PubMed Link: 24164896
Variant Present in the following documents:
  • Main text
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A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.

Human Molecular Genetics
Pooley, Karen A KA; Bojesen, Stig E SE; Weischer, Maren M; Nielsen, Sune F SF; Thompson, Deborah D; Amin Al Olama, Ali A; Michailidou, Kyriaki K; Tyrer, Jonathan P JP; Benlloch, Sara S; Brown, Judith J; Audley, Tina T; Luben, Robert R; Khaw, K-T KT; Neal, David E DE; Hamdy, Freddie C FC; Donovan, Jenny L JL; Kote-Jarai, Zsofia Z; Baynes, Caroline C; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Dicks, Ed E; Yang, Rongxi R; Rudolph, Anja A; Schildkraut, Joellen J; Chang-Claude, Jenny J; Burwinkel, Barbara B; Chenevix-Trench, Georgia G; Pharoah, Paul D P PD; Berchuck, Andrew A; Eeles, Rosalind A RA; Easton, Douglas F DF; Dunning, Alison M AM; Nordestgaard, Børge G BG
Publication Date: 2013-12-15

Variant appearance in text: rs2487999
PubMed Link: 23900074
Variant Present in the following documents:
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A prospective study of leukocyte telomere length and risk of type 2 diabetes in postmenopausal women.

Diabetes
You, Nai-Chieh Y NC; Chen, Brian H BH; Song, Yiqing Y; Lu, XuYang X; Chen, Yilin Y; Manson, JoAnn E JE; Kang, Mo M; Howard, Barbara V BV; Margolis, Karen L KL; Curb, J David JD; Phillips, Lawrence S LS; Stefanick, Marcia L ML; Tinker, Lesley F LF; Liu, Simin S
Publication Date: 2012-11

Variant appearance in text: rs2487999
PubMed Link: 22829448
Variant Present in the following documents:
  • Main text
  • 2998.pdf
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Genome-wide association study of relative telomere length.

Plos One
Prescott, Jennifer J; Kraft, Peter P; Chasman, Daniel I DI; Savage, Sharon A SA; Mirabello, Lisa L; Berndt, Sonja I SI; Weissfeld, Joel L JL; Han, Jiali J; Hayes, Richard B RB; Chanock, Stephen J SJ; Hunter, David J DJ; De Vivo, Immaculata I
Publication Date: 2011-05-10

Variant appearance in text: rs2487999
PubMed Link: 21573004
Variant Present in the following documents:
  • Main text
  • pone.0019635.pdf
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Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Levy, Daniel D; Neuhausen, Susan L SL; Hunt, Steven C SC; Kimura, Masayuki M; Hwang, Shih-Jen SJ; Chen, Wei W; Bis, Joshua C JC; Fitzpatrick, Annette L AL; Smith, Erin E; Johnson, Andrew D AD; Gardner, Jeffrey P JP; Srinivasan, Sathanur R SR; Schork, Nicholas N; Rotter, Jerome I JI; Herbig, Utz U; Psaty, Bruce M BM; Sastrasinh, Malinee M; Murray, Sarah S SS; Vasan, Ramachandran S RS; Province, Michael A MA; Glazer, Nicole L NL; Lu, Xiaobin X; Cao, Xiaojian X; Kronmal, Richard R; Mangino, Massimo M; Soranzo, Nicole N; Spector, Tim D TD; Berenson, Gerald S GS; Aviv, Abraham A
Publication Date: 2010-05-18

Variant appearance in text: rs2487999
PubMed Link: 20421499
Variant Present in the following documents:
  • Main text
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