LDLR c.2518_2519delinsGC ;(p.H840A)

Variant ID: 19-11240317-CA-GC

NM_000527.4(LDLR):c.2518_2519delinsGC;(p.H840A)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


CRISPR-Based Tools for Fighting Rare Diseases.

Life (Basel, Switzerland)
Li, Qingyang Q; Gao, Yanmin Y; Wang, Haifeng H
Publication Date: 2022-11-24

Variant appearance in text: LDLR: H840A
PubMed Link: 36556333
Variant Present in the following documents:
  • Main text
  • life-12-01968.pdf
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CRISPR-Cas9 Technology for the Creation of Biological Avatars Capable of Modeling and Treating Pathologies: From Discovery to the Latest Improvements.

Cells
Nasrallah, Ali A; Sulpice, Eric E; Kobaisi, Farah F; Gidrol, Xavier X; Rachidi, Walid W
Publication Date: 2022-11-15

Variant appearance in text: LDLR: H840A
PubMed Link: 36429042
Variant Present in the following documents:
  • Main text
  • cells-11-03615.pdf
View BVdb publication page



Poster Presentation.

Experimental Animals
Publication Date: 2022

Variant appearance in text: LDLR: H840A
PubMed Link: 35705295
Variant Present in the following documents:
  • expanim-71-S77.pdf
View BVdb publication page



Application of CRISPR/Cas9 System in Establishing Large Animal Models.

Frontiers In Cell And Developmental Biology
Lin, Yingqi Y; Li, Jun J; Li, Caijuan C; Tu, Zhuchi Z; Li, Shihua S; Li, Xiao-Jiang XJ; Yan, Sen S
Publication Date: 2022

Variant appearance in text: LDLR: H840A
PubMed Link: 35656550
Variant Present in the following documents:
  • Main text
  • fcell-10-919155.pdf
View BVdb publication page



Gene Therapy for Cardiovascular Disease: Basic Research and Clinical Prospects.

Frontiers In Cardiovascular Medicine
Cao, Genmao G; Xuan, Xuezhen X; Zhang, Ruijing R; Hu, Jie J; Dong, Honglin H
Publication Date: 2021

Variant appearance in text: LDLR: His840Ala
PubMed Link: 34805315
Variant Present in the following documents:
  • Main text
  • fcvm-08-760140.pdf
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Selective Activation of CNS and Reference PPARGC1A Promoters Is Associated with Distinct Gene Programs Relevant for Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Kwik, Markus M; Hainzl, Stefan S; Oppelt, Jan J; Tichy, Boris B; Koller, Ulrich U; Bernardinelli, Emanuele E; Steiner, Markus M; Zara, Greta G; Nofziger, Charity C; Weis, Serge S; Paulmichl, Markus M; Dossena, Silvia S; Patsch, Wolfgang W; Soyal, Selma M SM
Publication Date: 2021-03-24

Variant appearance in text: LDLR: H840A
PubMed Link: 33804860
Variant Present in the following documents:
  • Main text
  • ijms-22-03296.pdf
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Improvements in Gene Editing Technology Boost Its Applications in Livestock.

Frontiers In Genetics
Perisse, Iuri Viotti IV; Fan, Zhiqiang Z; Singina, Galina N GN; White, Kenneth L KL; Polejaeva, Irina A IA
Publication Date: 2020

Variant appearance in text: LDLR: H840A
PubMed Link: 33603767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving AAV-delivered therapeutics towards ultimate cures.

Journal Of Molecular Medicine (Berlin, Germany)
He, Xiangjun X; Urip, Brian Anugerah BA; Zhang, Zhenjie Z; Ngan, Chun Christopher CC; Feng, Bo B
Publication Date: 2021-05

Variant appearance in text: LDLR: H840A
PubMed Link: 33594520
Variant Present in the following documents:
  • Main text
  • 109_2020_Article_2034.pdf
View BVdb publication page



Advances in CRISPR/Cas-based Gene Therapy in Human Genetic Diseases.

Theranostics
Wu, Shao-Shuai SS; Li, Qing-Cui QC; Yin, Chang-Qing CQ; Xue, Wen W; Song, Chun-Qing CQ
Publication Date: 2020

Variant appearance in text: LDLR: H840A
PubMed Link: 32292501
Variant Present in the following documents:
  • Main text
  • thnov10p4374.pdf
View BVdb publication page



Development of hRad51-Cas9 nickase fusions that mediate HDR without double-stranded breaks.

Nature Communications
Rees, Holly A HA; Yeh, Wei-Hsi WH; Liu, David R DR
Publication Date: 2019-05-17

Variant appearance in text: LDLR: H840A
PubMed Link: 31101808
Variant Present in the following documents:
  • Main text
  • 41467_2019_9983_MOESM3_ESM.xlsx, sheet 1
  • 41467_2019_9983_MOESM3_ESM.xlsx, sheet 14
  • 41467_2019_9983_MOESM3_ESM.xlsx, sheet 2
  • 41467_2019_9983_MOESM3_ESM.xlsx, sheet 3
  • 41467_2019_9983_MOESM3_ESM.xlsx, sheet 11
  • 41467_2019_9983_MOESM3_ESM.xlsx, sheet 13
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An update on the tools for creating transgenic animal models of human diseases - focus on atherosclerosis.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
Volobueva, A S AS; Orekhov, A N AN; Deykin, A V AV
Publication Date: 2019

Variant appearance in text: LDLR: H840A
PubMed Link: 31038578
Variant Present in the following documents:
  • Main text
  • 1414-431X-bjmbr-52-5-e8108.pdf
View BVdb publication page