LRP5 c.3638-82C>T

Variant ID: 11-68196961-C-T

NM_002335.2(LRP5):c.3638-82C>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10

Variant appearance in text: rs607887
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
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: rs607887
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: LRP5: 3638-82C>T; rs607887
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs607887
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Two novel susceptibility loci for non-small cell lung cancer map to low-density lipoprotein receptor-related protein 5.

Oncology Letters
Wang, Ying Y; Zhang, Yongjun Y; Fang, Meiyu M; Bao, Wenglong W; Deng, Dehou D
Publication Date: 2016-10

Variant appearance in text: rs607887
PubMed Link: 27698794
Variant Present in the following documents:
  • Main text
  • ol-12-04-2307.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs607887
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



A family with Wagner syndrome with uveitis and a new versican mutation.

Molecular Vision
Rothschild, Pierre-Raphaël PR; Brézin, Antoine P AP; Nedelec, Brigitte B; Burin des Roziers, Cyril C; Ghiotti, Tiffany T; Orhant, Lucie L; Boimard, Mathieu M; Valleix, Sophie S
Publication Date: 2013

Variant appearance in text: rs607887
PubMed Link: 24174867
Variant Present in the following documents:
  • Main text
  • mv-v19-2040.pdf
View BVdb publication page



Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men.

Bone
Kiel, Douglas P DP; Ferrari, Serge L SL; Cupples, L Adrienne LA; Karasik, David D; Manen, Danielle D; Imamovic, Alma A; Herbert, Alan G AG; Dupuis, Josée J
Publication Date: 2007-03

Variant appearance in text: rs607887
PubMed Link: 17137849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study.

Journal Of Medical Genetics
Guo, Yan-fang YF; Xiong, Dong-hai DH; Shen, Hui H; Zhao, Lan-juan LJ; Xiao, Peng P; Guo, Yan Y; Wang, Wei W; Yang, Tie-lin TL; Recker, Robert R RR; Deng, Hong-wen HW
Publication Date: 2006-10

Variant appearance in text: rs607887
PubMed Link: 16723389
Variant Present in the following documents:
  • Main text
View BVdb publication page