PDGFRA c.-12-464C>T

Variant ID: 4-55124460-C-T

NM_006206.4(PDGFRA):c.-12-464C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Insight into the molecular genetics of myopia.

Molecular Vision
Li, Jiali J; Zhang, Qingjiong Q
Publication Date: 2017

Variant appearance in text: rs7677751
PubMed Link: 29386878
Variant Present in the following documents:
  • Main text
  • mv-v23-1048.pdf
View BVdb publication page



Attenuated PDGF signaling drives alveolar and microvascular defects in neonatal chronic lung disease.

Embo Molecular Medicine
Oak, Prajakta P; Pritzke, Tina T; Thiel, Isabella I; Koschlig, Markus M; Mous, Daphne S DS; Windhorst, Anita A; Jain, Noopur N; Eickelberg, Oliver O; Foerster, Kai K; Schulze, Andreas A; Goepel, Wolfgang W; Reicherzer, Tobias T; Ehrhardt, Harald H; Rottier, Robbert J RJ; Ahnert, Peter P; Gortner, Ludwig L; Desai, Tushar J TJ; Hilgendorff, Anne A
Publication Date: 2017-11

Variant appearance in text: rs7677751
PubMed Link: 28923828
Variant Present in the following documents:
  • EMMM-9-1504-s001.pdf
View BVdb publication page



Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Human Genetics
Li, Qing Q; Wojciechowski, Robert R; Simpson, Claire L CL; Hysi, Pirro G PG; Verhoeven, Virginie J M VJ; Ikram, Mohammad Kamran MK; Höhn, René R; Vitart, Veronique V; Hewitt, Alex W AW; Oexle, Konrad K; Mäkelä, Kari-Matti KM; MacGregor, Stuart S; Pirastu, Mario M; Fan, Qiao Q; Cheng, Ching-Yu CY; St Pourcain, Beaté B; McMahon, George G; Kemp, John P JP; Northstone, Kate K; Rahi, Jugnoo S JS; Cumberland, Phillippa M PM; Martin, Nicholas G NG; Sanfilippo, Paul G PG; Lu, Yi Y; Wang, Ya Xing YX; Hayward, Caroline C; Polašek, Ozren O; Campbell, Harry H; Bencic, Goran G; Wright, Alan F AF; Wedenoja, Juho J; Zeller, Tanja T; Schillert, Arne A; Mirshahi, Alireza A; Lackner, Karl K; Yip, Shea Ping SP; Yap, Maurice K H MK; Ried, Janina S JS; Gieger, Christian C; Murgia, Federico F; Wilson, James F JF; Fleck, Brian B; Yazar, Seyhan S; Vingerling, Johannes R JR; Hofman, Albert A; Uitterlinden, André A; Rivadeneira, Fernando F; Amin, Najaf N; Karssen, Lennart L; Oostra, Ben A BA; Zhou, Xin X; Teo, Yik-Ying YY; Tai, E Shyong ES; Vithana, Eranga E; Barathi, Veluchamy V; Zheng, Yingfeng Y; Siantar, Rosalynn Grace RG; Neelam, Kumari K; Shin, Youchan Y; Lam, Janice J; Yonova-Doing, Ekaterina E; Venturini, Cristina C; Hosseini, S Mohsen SM; Wong, Hoi-Suen HS; Lehtimäki, Terho T; Kähönen, Mika M; Raitakari, Olli O; Timpson, Nicholas J NJ; Evans, David M DM; Khor, Chiea-Chuen CC; Aung, Tin T; Young, Terri L TL; Mitchell, Paul P; Klein, Barbara B; van Duijn, Cornelia M CM; Meitinger, Thomas T; Jonas, Jost B JB; Baird, Paul N PN; Mackey, David A DA; Wong, Tien Yin TY; Saw, Seang-Mei SM; Pärssinen, Olavi O; Stambolian, Dwight D; Hammond, Christopher J CJ; Klaver, Caroline C W CC; Williams, Cathy C; Paterson, Andrew D AD; Bailey-Wilson, Joan E JE; Guggenheim, Jeremy A JA; ,
Publication Date: 2015-02

Variant appearance in text: rs7677751
PubMed Link: 25367360
Variant Present in the following documents:
  • Main text
  • 439_2014_Article_1500.pdf
View BVdb publication page



Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.

Molecular Vision
Yazar, Seyhan S; Mishra, Aniket A; Ang, Wei W; Kearns, Lisa S LS; Mountain, Jenny A JA; Pennell, Craig C; Montgomery, Grant W GW; Young, Terri L TL; Hammond, Christopher J CJ; Macgregor, Stuart S; Mackey, David A DA; Hewitt, Alex W AW
Publication Date: 2013

Variant appearance in text: rs7677751
PubMed Link: 23761726
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.

Molecular Vision
Guggenheim, Jeremy A JA; McMahon, George G; Kemp, John P JP; Akhtar, Saeed S; St Pourcain, Beate B; Northstone, Kate K; Ring, Susan M SM; Evans, David M DM; Smith, George Davey GD; Timpson, Nicholas J NJ; Williams, Cathy C
Publication Date: 2013

Variant appearance in text: rs7677751
PubMed Link: 23401653
Variant Present in the following documents:
  • Main text
  • mv-v19-243.pdf
View BVdb publication page



Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.

Plos Genetics
Fan, Qiao Q; Zhou, Xin X; Khor, Chiea-Chuen CC; Cheng, Ching-Yu CY; Goh, Liang-Kee LK; Sim, Xueling X; Tay, Wan-Ting WT; Li, Yi-Ju YJ; Ong, Rick Twee-Hee RT; Suo, Chen C; Cornes, Belinda B; Ikram, Mohammad Kamran MK; Chia, Kee-Seng KS; Seielstad, Mark M; Liu, Jianjun J; Vithana, Eranga E; Young, Terri L TL; Tai, E-Shyong ES; Wong, Tien-Yin TY; Aung, Tin T; Teo, Yik-Ying YY; Saw, Seang-Mei SM
Publication Date: 2011-12

Variant appearance in text: rs7677751
PubMed Link: 22144915
Variant Present in the following documents:
  • Main text
  • pgen.1002402.pdf
View BVdb publication page