TMEM263 c.*2056T>C

Variant ID: 12-107367225-T-C

NM_152261.2(TMEM263):c.*2056T>C

This variant was identified in 15 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: rs1053051
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs1053051
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Level and change in bone microarchitectural parameters and their relationship with previous fracture and established bone mineral density loci.

Bone
Fuggle, Nicholas R NR; Westbury, Leo D LD; Bevilacqua, Gregorio G; Titcombe, Philip P; Ó Breasail, Mícheál M; Harvey, Nicholas C NC; Dennison, Elaine M EM; Cooper, Cyrus C; Ward, Kate A KA
Publication Date: 2021-06

Variant appearance in text: rs1053051
PubMed Link: 33766802
Variant Present in the following documents:
  • Main text
View BVdb publication page



Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs1053051
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
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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: rs1053051
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs1053051
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module.

Cell Systems
Calabrese, Gina M GM; Mesner, Larry D LD; Stains, Joseph P JP; Tommasini, Steven M SM; Horowitz, Mark C MC; Rosen, Clifford J CJ; Farber, Charles R CR
Publication Date: 2017-01-25

Variant appearance in text: rs1053051
PubMed Link: 27866947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Computational Characterization of Osteoporosis Associated SNPs and Genes Identified by Genome-Wide Association Studies.

Plos One
Qin, Longjuan L; Liu, Yuyong Y; Wang, Ya Y; Wu, Guiju G; Chen, Jie J; Ye, Weiyuan W; Yang, Jiancai J; Huang, Qingyang Q
Publication Date: 2016

Variant appearance in text: rs1053051
PubMed Link: 26930606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nature Genetics
Bailey, Jessica N Cooke JN; Loomis, Stephanie J SJ; Kang, Jae H JH; Allingham, R Rand RR; Gharahkhani, Puya P; Khor, Chiea Chuen CC; Burdon, Kathryn P KP; Aschard, Hugues H; Chasman, Daniel I DI; Igo, Robert P RP; Hysi, Pirro G PG; Glastonbury, Craig A CA; Ashley-Koch, Allison A; Brilliant, Murray M; Brown, Andrew A AA; Budenz, Donald L DL; Buil, Alfonso A; Cheng, Ching-Yu CY; Choi, Hyon H; Christen, William G WG; Curhan, Gary G; De Vivo, Immaculata I; Fingert, John H JH; Foster, Paul J PJ; Fuchs, Charles C; Gaasterland, Douglas D; Gaasterland, Terry T; Hewitt, Alex W AW; Hu, Frank F; Hunter, David J DJ; Khawaja, Anthony P AP; Lee, Richard K RK; Li, Zheng Z; Lichter, Paul R PR; Mackey, David A DA; McGuffin, Peter P; Mitchell, Paul P; Moroi, Sayoko E SE; Perera, Shamira A SA; Pepper, Keating W KW; Qi, Qibin Q; Realini, Tony T; Richards, Julia E JE; Ridker, Paul M PM; Rimm, Eric E; Ritch, Robert R; Ritchie, Marylyn M; Schuman, Joel S JS; Scott, William K WK; Singh, Kuldev K; Sit, Arthur J AJ; Song, Yeunjoo E YE; Tamimi, Rulla M RM; Topouzis, Fotis F; Viswanathan, Ananth C AC; Verma, Shefali Setia SS; Vollrath, Douglas D; Wang, Jie Jin JJ; Weisschuh, Nicole N; Wissinger, Bernd B; Wollstein, Gadi G; Wong, Tien Y TY; Yaspan, Brian L BL; Zack, Donald J DJ; Zhang, Kang K; Study, Epic-Norfolk Eye EN; , ; Weinreb, Robert N RN; Pericak-Vance, Margaret A MA; Small, Kerrin K; Hammond, Christopher J CJ; Aung, Tin T; Liu, Yutao Y; Vithana, Eranga N EN; MacGregor, Stuart S; Craig, Jamie E JE; Kraft, Peter P; Howell, Gareth G; Hauser, Michael A MA; Pasquale, Louis R LR; Haines, Jonathan L JL; Wiggs, Janey L JL
Publication Date: 2016-02

Variant appearance in text: rs1053051
PubMed Link: 26752265
Variant Present in the following documents:
  • NIHMS744052-supplement-2.pdf
View BVdb publication page



BMD Loci Contribute to Ethnic and Developmental Differences in Skeletal Fragility across Populations: Assessment of Evolutionary Selection Pressures.

Molecular Biology And Evolution
Medina-Gómez, Carolina C; Chesi, Alessandra A; Heppe, Denise H M DH; Zemel, Babette S BS; Yin, Jia-Lian JL; Kalkwarf, Heidi J HJ; Hofman, Albert A; Lappe, Joan M JM; Kelly, Andrea A; Kayser, Manfred M; Oberfield, Sharon E SE; Gilsanz, Vicente V; Uitterlinden, André G AG; Shepherd, John A JA; Jaddoe, Vincent W V VW; Grant, Struan F A SF; Lao, Oscar O; Rivadeneira, Fernando F
Publication Date: 2015-11

Variant appearance in text: rs1053051
PubMed Link: 26226985
Variant Present in the following documents:
  • supp_msv170_SI_Appendix.pdf
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: rs1053051
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genetics of Bone Mass in Childhood and Adolescence: Effects of Sex and Maturation Interactions.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Mitchell, Jonathan A JA; Chesi, Alessandra A; Elci, Okan O; McCormack, Shana E SE; Kalkwarf, Heidi J HJ; Lappe, Joan M JM; Gilsanz, Vicente V; Oberfield, Sharon E SE; Shepherd, John A JA; Kelly, Andrea A; Zemel, Babette S BS; Grant, Struan F A SF
Publication Date: 2015-09

Variant appearance in text: rs1053051
PubMed Link: 25762182
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population.

Genomics & Informatics
Ham, Seokjin S; Roh, Tae-Young TY
Publication Date: 2014-09

Variant appearance in text: rs1053051
PubMed Link: 25317110
Variant Present in the following documents:
  • gni-12-114.pdf
View BVdb publication page



Clinical impact of recent genetic discoveries in osteoporosis.

The Application Of Clinical Genetics
Mitchell, Braxton D BD; Streeten, Elizabeth A EA
Publication Date: 2013-10-04

Variant appearance in text: rs1053051
PubMed Link: 24133373
Variant Present in the following documents:
  • Main text
  • tacg-6-075.pdf
View BVdb publication page



Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

Nature Genetics
Estrada, Karol K; Styrkarsdottir, Unnur U; Evangelou, Evangelos E; Hsu, Yi-Hsiang YH; Duncan, Emma L EL; Ntzani, Evangelia E EE; Oei, Ling L; Albagha, Omar M E OM; Amin, Najaf N; Kemp, John P JP; Koller, Daniel L DL; Li, Guo G; Liu, Ching-Ti CT; Minster, Ryan L RL; Moayyeri, Alireza A; Vandenput, Liesbeth L; Willner, Dana D; Xiao, Su-Mei SM; Yerges-Armstrong, Laura M LM; Zheng, Hou-Feng HF; Alonso, Nerea N; Eriksson, Joel J; Kammerer, Candace M CM; Kaptoge, Stephen K SK; Leo, Paul J PJ; Thorleifsson, Gudmar G; Wilson, Scott G SG; Wilson, James F JF; Aalto, Ville V; Alen, Markku M; Aragaki, Aaron K AK; Aspelund, Thor T; Center, Jacqueline R JR; Dailiana, Zoe Z; Duggan, David J DJ; Garcia, Melissa M; Garcia-Giralt, Natàlia N; Giroux, Sylvie S; Hallmans, Göran G; Hocking, Lynne J LJ; Husted, Lise Bjerre LB; Jameson, Karen A KA; Khusainova, Rita R; Kim, Ghi Su GS; Kooperberg, Charles C; Koromila, Theodora T; Kruk, Marcin M; Laaksonen, Marika M; Lacroix, Andrea Z AZ; Lee, Seung Hun SH; Leung, Ping C PC; Lewis, Joshua R JR; Masi, Laura L; Mencej-Bedrac, Simona S; Nguyen, Tuan V TV; Nogues, Xavier X; Patel, Millan S MS; Prezelj, Janez J; Rose, Lynda M LM; Scollen, Serena S; Siggeirsdottir, Kristin K; Smith, Albert V AV; Svensson, Olle O; Trompet, Stella S; Trummer, Olivia O; van Schoor, Natasja M NM; Woo, Jean J; Zhu, Kun K; Balcells, Susana S; Brandi, Maria Luisa ML; Buckley, Brendan M BM; Cheng, Sulin S; Christiansen, Claus C; Cooper, Cyrus C; Dedoussis, George G; Ford, Ian I; Frost, Morten M; Goltzman, David D; González-Macías, Jesús J; Kähönen, Mika M; Karlsson, Magnus M; Khusnutdinova, Elza E; Koh, Jung-Min JM; Kollia, Panagoula P; Langdahl, Bente Lomholt BL; Leslie, William D WD; Lips, Paul P; Ljunggren, Östen Ö; Lorenc, Roman S RS; Marc, Janja J; Mellström, Dan D; Obermayer-Pietsch, Barbara B; Olmos, José M JM; Pettersson-Kymmer, Ulrika U; Reid, David M DM; Riancho, José A JA; Ridker, Paul M PM; Rousseau, François F; Slagboom, P Eline PE; Tang, Nelson L S NL; Urreizti, Roser R; Van Hul, Wim W; Viikari, Jorma J; Zarrabeitia, María T MT; Aulchenko, Yurii S YS; Castano-Betancourt, Martha M; Grundberg, Elin E; Herrera, Lizbeth L; Ingvarsson, Thorvaldur T; Johannsdottir, Hrefna H; Kwan, Tony T; Li, Rui R; Luben, Robert R; Medina-Gómez, Carolina C; Palsson, Stefan Th ST; Reppe, Sjur S; Rotter, Jerome I JI; Sigurdsson, Gunnar G; van Meurs, Joyce B J JB; Verlaan, Dominique D; Williams, Frances M K FM; Wood, Andrew R AR; Zhou, Yanhua Y; Gautvik, Kaare M KM; Pastinen, Tomi T; Raychaudhuri, Soumya S; Cauley, Jane A JA; Chasman, Daniel I DI; Clark, Graeme R GR; Cummings, Steven R SR; Danoy, Patrick P; Dennison, Elaine M EM; Eastell, Richard R; Eisman, John A JA; Gudnason, Vilmundur V; Hofman, Albert A; Jackson, Rebecca D RD; Jones, Graeme G; Jukema, J Wouter JW; Khaw, Kay-Tee KT; Lehtimäki, Terho T; Liu, Yongmei Y; Lorentzon, Mattias M; McCloskey, Eugene E; Mitchell, Braxton D BD; Nandakumar, Kannabiran K; Nicholson, Geoffrey C GC; Oostra, Ben A BA; Peacock, Munro M; Pols, Huibert A P HA; Prince, Richard L RL; Raitakari, Olli O; Reid, Ian R IR; Robbins, John J; Sambrook, Philip N PN; Sham, Pak Chung PC; Shuldiner, Alan R AR; Tylavsky, Frances A FA; van Duijn, Cornelia M CM; Wareham, Nick J NJ; Cupples, L Adrienne LA; Econs, Michael J MJ; Evans, David M DM; Harris, Tamara B TB; Kung, Annie Wai Chee AW; Psaty, Bruce M BM; Reeve, Jonathan J; Spector, Timothy D TD; Streeten, Elizabeth A EA; Zillikens, M Carola MC; Thorsteinsdottir, Unnur U; Ohlsson, Claes C; Karasik, David D; Richards, J Brent JB; Brown, Matthew A MA; Stefansson, Kari K; Uitterlinden, André G AG; Ralston, Stuart H SH; Ioannidis, John P A JP; Kiel, Douglas P DP; Rivadeneira, Fernando F
Publication Date: 2012-04-15

Variant appearance in text: rs1053051
PubMed Link: 22504420
Variant Present in the following documents:
  • Main text
  • NIHMS364577-supplement-1.pdf
View BVdb publication page