UIMC1 c.1344C>A ;(p.T448=)

Variant ID: 5-176378574-G-T

NM_001199298.1(UIMC1):c.1344C>A;(p.T448=)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


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: N/A
PubMed Link: 36467812
Variant Present in the following documents:
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: UIMC1: T448T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: UIMC1: T448T
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Effect of Genetic Variation in CYP450 on Gonadal Impairment in a European Cohort of Female Childhood Cancer Survivors, Based on a Candidate Gene Approach: Results from the PanCareLIFE Study.

Cancers
van der Perk, M E Madeleine MEM; Broer, Linda L; Yasui, Yutaka Y; Robison, Leslie L LL; Hudson, Melissa M MM; Laven, Joop S E JSE; van der Pal, Helena J HJ; Tissing, Wim J E WJE; Versluys, Birgitta B; Bresters, Dorine D; Kaspers, Gertjan J L GJL; de Vries, Andrica C H ACH; Lambalk, Cornelis B CB; Overbeek, Annelies A; Loonen, Jacqueline J JJ; Beerendonk, Catharina C M CCM; Byrne, Julianne J; Berger, Claire C; Clemens, Eva E; Dirksen, Uta U; Falck Winther, Jeanette J; Fosså, Sophie D SD; Grabow, Desiree D; Muraca, Monica M; Kaiser, Melanie M; Kepák, Tomáš T; Kruseova, Jarmila J; Modan-Moses, Dalit D; Spix, Claudia C; Zolk, Oliver O; Kaatsch, Peter P; Krijthe, Jesse H JH; Kremer, Leontien C M LCM; Brooke, Russell J RJ; Baedke, Jessica L JL; van Schaik, Ron H N RHN; van den Anker, John N JN; Uitterlinden, André G AG; Bos, Annelies M E AME; van Leeuwen, Flora E FE; van Dulmen-den Broeder, Eline E; van der Kooi, Anne-Lotte L F ALF; van den Heuvel-Eibrink, Marry M MM; On Behalf Of The PanCareLIFE Consortium,
Publication Date: 2021-09-13

Variant appearance in text: rs365132
PubMed Link: 34572825
Variant Present in the following documents:
  • Main text
  • cancers-13-04598.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: UIMC1: Thr448Thr; rs365132
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function.

Human Reproduction (Oxford, England)
van der Kooi, Anne-Lotte L F ALF; van Dijk, Marloes M; Broer, Linda L; van den Berg, Marleen H MH; Laven, Joop S E JSE; van Leeuwen, Flora E FE; Lambalk, Cornelis B CB; Overbeek, Annelies A; Loonen, Jacqueline J JJ; van der Pal, Helena J HJ; Tissing, Wim J WJ; Versluys, Birgitta B; Bresters, Dorine D; Beerendonk, Catharina C M CCM; Ronckers, Cécile R CR; van der Heiden-van der Loo, Margriet M; Kaspers, Gertjan L GL; de Vries, Andrica C H ACH; Robison, Leslie L LL; Hudson, Melissa M MM; Chemaitilly, Wassim W; Byrne, Julianne J; Berger, Claire C; Clemens, Eva E; Dirksen, Uta U; Falck Winther, Jeanette J; Fosså, Sophie D SD; Grabow, Desiree D; Haupt, Riccardo R; Kaiser, Melanie M; Kepak, Tomas T; Kruseova, Jarmila J; Modan-Moses, Dalit D; Pluijm, Saskia M F SMF; Spix, Claudia C; Zolk, Oliver O; Kaatsch, Peter P; Krijthe, Jesse H JH; Kremer, Leontien C LC; Yasui, Yutaka Y; Brooke, Russell J RJ; Uitterlinden, André G AG; van den Heuvel-Eibrink, Marry M MM; van Dulmen-den Broeder, Eline E
Publication Date: 2021-03-18

Variant appearance in text: rs365132
PubMed Link: 33582778
Variant Present in the following documents:
  • Main text
  • deaa342.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: UIMC1: 1344C>A; rs365132
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



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: rs365132
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Is menopause still evolving? Evidence from a longitudinal study of multiethnic populations and its relevance to women's health.

Bmc Women'S Health
Chan, Shirley S; Gomes, Alyssa A; Singh, Rama Shankar RS
Publication Date: 2020-04-19

Variant appearance in text: rs365132
PubMed Link: 32307019
Variant Present in the following documents:
  • Main text
  • 12905_2020_Article_932.pdf
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: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: UIMC1: 1344C>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_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: rs365132
PubMed Link: 30570522
Variant Present in the following documents:
  • Main text
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: UIMC1: 1344C>A; rs365132
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: rs365132
PubMed Link: 29848177
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
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: rs365132
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: rs365132
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: rs365132
PubMed Link: 27629107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs365132
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-3.pdf
View BVdb publication page



Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women.

Oncotarget
Ling, Hong H; Li, Shan S; Wu, Yang Y; Zheng, Yi-Zi YZ; Qiao, Feng F; Yao, Ling L; Cao, Zhi-Gang ZG; Ye, Fu-Gui FG; Wu, Jiong J; Hu, Xin X; Wang, Bin B; Shao, Zhi-Ming ZM
Publication Date: 2016-03-01

Variant appearance in text: rs365132
PubMed Link: 26848770
Variant Present in the following documents:
  • Main text
  • oncotarget-07-09759.pdf
  • oncotarget-07-09759-s001.pdf
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: rs365132
PubMed Link: 26414677
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs365132
PubMed Link: 25994816
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N/A
PubMed Link: 25944692
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: N/A
PubMed Link: 25496518
Variant Present in the following documents:
View BVdb publication page



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: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page



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: rs365132
PubMed Link: 25147555
Variant Present in the following documents:
  • Main text
  • fgene-05-00260.pdf
View BVdb publication page



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: rs365132
PubMed Link: 24493794
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: N/A
PubMed Link: 24219164
Variant Present in the following documents:
View BVdb publication page



Genomic markers of ovarian reserve.

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

Variant appearance in text: rs365132
PubMed Link: 24101221
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs365132
PubMed Link: 23536822
Variant Present in the following documents:
  • Main text
  • pone.0058766.pdf
View BVdb publication page



Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study.

Human Reproduction (Oxford, England)
Carty, C L CL; Spencer, K L KL; Setiawan, V W VW; Fernandez-Rhodes, L L; Malinowski, J J; Buyske, S S; Young, A A; Jorgensen, N W NW; Cheng, I I; Carlson, C S CS; Brown-Gentry, K K; Goodloe, R R; Park, A A; Parikh, N I NI; Henderson, B B; Le Marchand, L L; Wactawski-Wende, J J; Fornage, M M; Matise, T C TC; Hindorff, L A LA; Arnold, A M AM; Haiman, C A CA; Franceschini, N N; Peters, U U; Crawford, D C DC
Publication Date: 2013-06

Variant appearance in text: rs365132
PubMed Link: 23508249
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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: rs365132
PubMed Link: 22433456
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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: rs365132
PubMed Link: 22267201
Variant Present in the following documents:
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  • NIHMS342040-supplement-1.pdf
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ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure.

Orphanet Journal Of Rare Diseases
Qin, Yingying Y; Sun, Mei M; You, Li L; Wei, Deying D; Sun, Jielin J; Liang, Xiaoyan X; Zhang, Bo B; Jiang, Hong H; Xu, Jianfeng J; Chen, Zi-Jiang ZJ
Publication Date: 2012-01-17

Variant appearance in text: rs365132
PubMed Link: 22248077
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Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.

Human Molecular Genetics
Chen, Christina T L CT; Fernández-Rhodes, Lindsay L; Brzyski, Robert G RG; Carlson, Christopher S CS; Chen, Zhao Z; Heiss, Gerardo G; North, Kari E KE; Woods, Nancy F NF; Rajkovic, Aleksandar A; Kooperberg, Charles C; Franceschini, Nora N
Publication Date: 2012-03-15

Variant appearance in text: rs365132
PubMed Link: 22131368
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Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.

Human Molecular Genetics
Murray, Anna A; Bennett, Claire E CE; Perry, John R B JR; Weedon, Michael N MN; Jacobs, Patricia A PA; Morris, Danielle H DH; Orr, Nicholas N; Schoemaker, Minouk J MJ; Jones, Michael M; Ashworth, Alan A; Swerdlow, Anthony J AJ; ,
Publication Date: 2011-01-01

Variant appearance in text: rs365132
PubMed Link: 20952801
Variant Present in the following documents:
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  • ddq417.pdf
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Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.

Nature Genetics
He, Chunyan C; Kraft, Peter P; Chen, Constance C; Buring, Julie E JE; Paré, Guillaume G; Hankinson, Susan E SE; Chanock, Stephen J SJ; Ridker, Paul M PM; Hunter, David J DJ; Chasman, Daniel I DI
Publication Date: 2009-06

Variant appearance in text: rs365132
PubMed Link: 19448621
Variant Present in the following documents:
  • Main text
  • nihms113594.pdf
  • NIHMS113594-supplement-1.pdf
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