LPL c.775+33C>G

Variant ID: 8-19811897-C-G

NM_000237.2(LPL):c.775+33C>G

This variant was identified in 24 publications

View GRCh38 version.




Publications:


RAS-targeted cancer therapy: Advances in drugging specific mutations.

Medcomm
Liu, Cen C; Ye, Danyang D; Yang, Hongliu H; Chen, Xu X; Su, Zhijun Z; Li, Xia X; Ding, Mei M; Liu, Yonggang Y
Publication Date: 2023-06

Variant appearance in text: rs254
PubMed Link: 37250144
Variant Present in the following documents:
  • MCO2-4-e285.pdf
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs254
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

International Journal Of Molecular Sciences
Rodríguez-Gutiérrez, Perla Graciela PG; Colima-Fausto, Ana Gabriela AG; Zepeda-Olmos, Paola Montserrat PM; Hernández-Flores, Teresita de Jesús TJ; González-García, Juan Ramón JR; Magaña-Torres, María Teresa MT
Publication Date: 2022-12-27

Variant appearance in text: rs254
PubMed Link: 36613909
Variant Present in the following documents:
  • ijms-24-00465.pdf
View BVdb publication page



Identification of Germinal Neurofibromin Hotspots.

Biomedicines
Lois, Sergio S; Báez-Flores, Juan J; Isidoro-García, María M; Lacal, Jesus J; Triviño, Juan Carlos JC
Publication Date: 2022-08-21

Variant appearance in text: rs254
PubMed Link: 36009591
Variant Present in the following documents:
  • biomedicines-10-02044.pdf
View BVdb publication page



Recent advances in metal-free heteroatom-doped carbon heterogonous catalysts.

Rsc Advances
Rangraz, Yalda Y; Heravi, Majid M MM
Publication Date: 2021-07-01

Variant appearance in text: rs254
PubMed Link: 35479780
Variant Present in the following documents:
  • RA-011-D1RA03446D.pdf
View BVdb publication page



Cellular interplay between cardiomyocytes and non-myocytes in diabetic cardiomyopathy.

Cardiovascular Research
Phang, Ren Jie RJ; Ritchie, Rebecca H RH; Hausenloy, Derek J DJ; Lees, Jarmon G JG; Lim, Shiang Y SY
Publication Date: 2022-04-07

Variant appearance in text: rs254
PubMed Link: 35388880
Variant Present in the following documents:
  • cvac049.pdf
View BVdb publication page



LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine
Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL
Publication Date: 2022-03-03

Variant appearance in text: LPL: 775+33C>G; rs254
PubMed Link: 35241092
Variant Present in the following documents:
  • 12967_2022_3314_MOESM2_ESM.pdf
View BVdb publication page



High-Throughput Methods in the Discovery and Study of Biomaterials and Materiobiology.

Chemical Reviews
Yang, Liangliang L; Pijuan-Galito, Sara S; Rho, Hoon Suk HS; Vasilevich, Aliaksei S AS; Eren, Aysegul Dede AD; Ge, Lu L; Habibović, Pamela P; Alexander, Morgan R MR; de Boer, Jan J; Carlier, Aurélie A; van Rijn, Patrick P; Zhou, Qihui Q
Publication Date: 2021-04-28

Variant appearance in text: rs254
PubMed Link: 33705116
Variant Present in the following documents:
  • cr0c00752.pdf
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: LPL: 775+33C>G; rs254
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Human immunology and immunotherapy: main achievements and challenges.

Cellular & Molecular Immunology
Varadé, Jezabel J; Magadán, Susana S; González-Fernández, África Á
Publication Date: 2021-04

Variant appearance in text: rs254
PubMed Link: 32879472
Variant Present in the following documents:
  • 41423_2020_Article_530.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LPL: 775+33C>G
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs254
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
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: LPL: 775+33C>G; rs254
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Additional Biomarkers beyond RAS That Impact the Efficacy of Cetuximab plus Chemotherapy in mCRC: A Retrospective Biomarker Analysis.

Journal Of Oncology
Zheng, Peng P; Liang, Chunmin C; Ren, Li L; Zhu, Dexiang D; Feng, Qingyang Q; Chang, Wenju W; He, Guodong G; Ye, Lechi L; Chen, Jingwen J; Lin, Qi Q; Yi, Tuo T; Ji, Meiling M; Niu, Zhengchuan Z; Jian, Mi M; Wei, Ye Y; Xu, Jianmin J
Publication Date: 2018

Variant appearance in text: rs254
PubMed Link: 30305811
Variant Present in the following documents:
  • 5072987.f1.pdf
View BVdb publication page



Experience with an abdominal compression band for radiotherapy of upper abdominal tumours.

Journal Of Medical Radiation Sciences
Van Gelder, Rebecca R; Wong, Shelley S; Le, Andrew A; Podreka, Alexander A; Briggs, Adam A; Haddad, Carol C; Hardcastle, Nicholas N
Publication Date: 2018-03

Variant appearance in text: rs254
PubMed Link: 29205937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploiting the Ref-1-APE1 node in cancer signaling and other diseases: from bench to clinic.

Npj Precision Oncology
Shah, Fenil F; Logsdon, Derek D; Messmann, Richard A RA; Fehrenbacher, Jill C JC; Fishel, Melissa L ML; Kelley, Mark R MR
Publication Date: 2017

Variant appearance in text: rs254
PubMed Link: 28825044
Variant Present in the following documents:
  • 41698_2017_Article_23.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs254
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Structural Analysis of Chemokine Receptor-Ligand Interactions.

Journal Of Medicinal Chemistry
Arimont, Marta M; Sun, Shan-Liang SL; Leurs, Rob R; Smit, Martine M; de Esch, Iwan J P IJP; de Graaf, Chris C
Publication Date: 2017-06-22

Variant appearance in text: rs254
PubMed Link: 28165741
Variant Present in the following documents:
  • jm6b01309.pdf
View BVdb publication page



Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.

European Urology
Cartwright, Rufus R; Mangera, Altaf A; Tikkinen, Kari A O KA; Rajan, Prabhakar P; Pesonen, Jori J; Kirby, Anna C AC; Thiagamoorthy, Ganesh G; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip R PR; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Khullar, Vik V; Chapple, Chris C
Publication Date: 2014-10

Variant appearance in text: rs254
PubMed Link: 24491308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Time-lapse imaging of the initiation of pollen embryogenesis in barley (Hordeum vulgare L.).

Journal Of Experimental Botany
Daghma, D S DS; Kumlehn, J J; Hensel, G G; Rutten, T T; Melzer, M M
Publication Date: 2012-10

Variant appearance in text: rs254
PubMed Link: 22991158
Variant Present in the following documents:
  • Main text
  • ers254.pdf
View BVdb publication page



Association of lipoprotein lipase (LPL) single nucleotide polymorphisms with type 2 diabetes mellitus.

Experimental & Molecular Medicine
Cho, Yoon Shin YS; Go, Min Jin MJ; Han, Hye Ree HR; Cha, Seung Hun SH; Kim, Hung Tae HT; Min, Haesook H; Shin, Hyoung Doo HD; Park, Chan C; Han, Bok Ghee BG; Cho, Nam Han NH; Shin, Chol C; Kimm, Kuchan K; Oh, Bermseok B
Publication Date: 2008-10-31

Variant appearance in text: rs254
PubMed Link: 18985010
Variant Present in the following documents:
  • Main text
View BVdb publication page



NudEL targets dynein to microtubule ends through LIS1.

Nature Cell Biology
Li, Jun J; Lee, Wei-Lih WL; Cooper, John A JA
Publication Date: 2005-07

Variant appearance in text: rs254
PubMed Link: 15965467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Linkage disequilibrium grouping of single nucleotide polymorphisms (SNPs) reflecting haplotype phylogeny for efficient selection of tag SNPs.

Genetics
Takeuchi, Fumihiko F; Yanai, Kazuyuki K; Morii, Toshiyuki T; Ishinaga, Yuji Y; Taniguchi-Yanai, Keiko K; Nagano, Shinobu S; Kato, Norihiro N
Publication Date: 2005-05

Variant appearance in text: rs254
PubMed Link: 15716494
Variant Present in the following documents:
  • Main text
View BVdb publication page