REEP3 c.105+10983T>C

Variant ID: 10-65337153-T-C

NM_001001330.2(REEP3):c.105+10983T>C

This variant was identified in 11 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: rs10822184
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Lower androgen levels promote abnormal cartilage development in female patients with adolescent idiopathic scoliosis.

Annals Of Translational Medicine
Wu, Yuan-Tao YT; Tang, Ming-Xing MX; Wang, Yun-Jia YJ; Li, Jiong J; Wang, Yu-Xiang YX; Deng, Ang A; Guo, Chao-Feng CF; Zhang, Hong-Qi HQ
Publication Date: 2021-05

Variant appearance in text: rs10822184
PubMed Link: 34268397
Variant Present in the following documents:
  • Main text
  • atm-09-09-784.pdf
View BVdb publication page



Differential DNA Methylation in Prostate Tumors from Puerto Rican Men.

International Journal Of Molecular Sciences
Ruiz-Deya, Gilberto G; Matta, Jaime J; Encarnación-Medina, Jarline J; Ortiz-Sanchéz, Carmen C; Dutil, Julie J; Putney, Ryan R; Berglund, Anders A; Dhillon, Jasreman J; Kim, Youngchul Y; Park, Jong Y JY
Publication Date: 2021-01-13

Variant appearance in text: rs10822184
PubMed Link: 33450964
Variant Present in the following documents:
  • Main text
  • ijms-22-00733.pdf
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The Potential Effect of Aberrant Testosterone Levels on Common Diseases: A Mendelian Randomization Study.

Genes
Syed, Ali Alamdar Shah AAS; He, Lin L; Shi, Yongyong Y
Publication Date: 2020-06-29

Variant appearance in text: rs10822184
PubMed Link: 32610558
Variant Present in the following documents:
  • Main text
  • genes-11-00721.pdf
View BVdb publication page



Association Between Levels of Sex Hormones and Risk of Esophageal Adenocarcinoma and Barrett's Esophagus.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
Xie, Shao-Hua SH; Fang, Rui R; Huang, Mingtao M; Dai, Juncheng J; Thrift, Aaron P AP; Anderson, Lesley A LA; Chow, Wong-Ho WH; Bernstein, Leslie L; Gammon, Marilie D MD; Risch, Harvey A HA; Shaheen, Nicholas J NJ; Reid, Brian J BJ; Wu, Anna H AH; Iyer, Prasad G PG; Liu, Geoffrey G; Corley, Douglas A DA; Whiteman, David C DC; Caldas, Carlos C; Pharoah, Paul D PD; Hardie, Laura J LJ; Fitzgerald, Rebecca C RC; Shen, Hongbing H; Vaughan, Thomas L TL; Lagergren, Jesper J
Publication Date: 2020-11

Variant appearance in text: rs10822184
PubMed Link: 31756444
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.

Human Molecular Genetics
Warrington, Nicole M NM; Shevroja, Enisa E; Hemani, Gibran G; Hysi, Pirro G PG; Jiang, Yunxuan Y; Auton, Adam A; Boer, Cindy G CG; Mangino, Massimo M; Wang, Carol A CA; Kemp, John P JP; McMahon, George G; Medina-Gomez, Carolina C; Hickey, Martha M; Trajanoska, Katerina K; Wolke, Dieter D; Ikram, M Arfan MA; , ; Montgomery, Grant W GW; Felix, Janine F JF; Wright, Margaret J MJ; Mackey, David A DA; Jaddoe, Vincent W VW; Martin, Nicholas G NG; Tung, Joyce Y JY; Davey Smith, George G; Pennell, Craig E CE; Spector, Tim D TD; van Meurs, Joyce J; Rivadeneira, Fernando F; Medland, Sarah E SE; Evans, David M DM
Publication Date: 2018-06-01

Variant appearance in text: rs10822184
PubMed Link: 29659830
Variant Present in the following documents:
  • Main text
  • ddy121.pdf
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Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age.

Journal Of The Endocrine Society
Grigorova, Marina M; Punab, Margus M; Poolamets, Olev O; Adler, Mart M; Vihljajev, Vladimir V; Laan, Maris M
Publication Date: 2017-06-01

Variant appearance in text: rs10822184
PubMed Link: 29264510
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in JMJD1C are associated with pubertal onset in boys and reproductive function in men.

Scientific Reports
Mørup, Nina N; Busch, Alexander Siegfried AS; Bang, Anne Kirstine AK; Nordkap, Loa L; Nielsen, John E JE; Rajpert-De Meyts, Ewa E; Juul, Anders A; Jørgensen, Niels N; Almstrup, Kristian K
Publication Date: 2017-12-08

Variant appearance in text: rs10822184
PubMed Link: 29222425
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_17575.pdf
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Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.

Plos Genetics
Choi, Seung Hoan SH; Ruggiero, Daniela D; Sorice, Rossella R; Song, Ci C; Nutile, Teresa T; Vernon Smith, Albert A; Concas, Maria Pina MP; Traglia, Michela M; Barbieri, Caterina C; Ndiaye, Ndeye Coumba NC; Stathopoulou, Maria G MG; Lagou, Vasiliki V; Maestrale, Giovanni Battista GB; Sala, Cinzia C; Debette, Stephanie S; Kovacs, Peter P; Lind, Lars L; Lamont, John J; Fitzgerald, Peter P; Tönjes, Anke A; Gudnason, Vilmundur V; Toniolo, Daniela D; Pirastu, Mario M; Bellenguez, Celine C; Vasan, Ramachandran S RS; Ingelsson, Erik E; Leutenegger, Anne-Louise AL; Johnson, Andrew D AD; DeStefano, Anita L AL; Visvikis-Siest, Sophie S; Seshadri, Sudha S; Ciullo, Marina M
Publication Date: 2016-02

Variant appearance in text: rs10822184
PubMed Link: 26910538
Variant Present in the following documents:
  • Main text
  • pgen.1005874.pdf
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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: rs10822184
PubMed Link: 25400620
Variant Present in the following documents:
  • Main text
  • fendo-05-00187.pdf
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Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.

Human Molecular Genetics
Jin, Guangfu G; Sun, Jielin J; Kim, Seong-Tae ST; Feng, Junjie J; Wang, Zhong Z; Tao, Sha S; Chen, Zhuo Z; Purcell, Lina L; Smith, Shelly S; Isaacs, William B WB; Rittmaster, Roger S RS; Zheng, S Lilly SL; Condreay, Lynn D LD; Xu, Jianfeng J
Publication Date: 2012-12-01

Variant appearance in text: rs10822184
PubMed Link: 22936694
Variant Present in the following documents:
  • Main text
View BVdb publication page