SELPLG c.186G>A ;(p.M62I)

Variant ID: 12-109017898-C-T

NM_003006.4(SELPLG):c.186G>A;(p.M62I)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Targeting SELPLG/P-selectin glycoprotein ligand 1 in preclinical ARDS: Genetic and epigenetic regulation of the SELPLG promoter.

Pulmonary Circulation
Sun, Xiaoguang X; Sammani, Saad S; Hufford, Matthew M; Sun, Belinda L BL; Kempf, Carrie L CL; Camp, Sara M SM; Garcia, Joe G N JGN; Bime, Christian C
Publication Date: 2023-01

Variant appearance in text: SELPLG: Met62Ile; rs2228315
PubMed Link: 36873461
Variant Present in the following documents:
  • Main text
  • PUL2-13-e12206.pdf
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs2228315
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



Evolution of multiple omics approaches to define pathophysiology of pediatric acute respiratory distress syndrome.

Elife
Whitney, Jane E JE; Lee, In-Hee IH; Lee, Ji-Won JW; Kong, Sek Won SW
Publication Date: 2022-08-01

Variant appearance in text: rs2228315
PubMed Link: 35913450
Variant Present in the following documents:
  • Main text
  • elife-77405.pdf
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: SELPLG: M62I
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Neutrophils-From Bone Marrow to First-Line Defense of the Innate Immune System.

Frontiers In Immunology
Kraus, Richard Felix RF; Gruber, Michael Andreas MA
Publication Date: 2021

Variant appearance in text: PSGL-1: M62I
PubMed Link: 35003081
Variant Present in the following documents:
  • fimmu-12-767175.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SELPLG: 186G>A; M62I; rs2228315
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2228315
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Sex as a Biological Variable in Atherosclerosis.

Circulation Research
Man, Joshua J JJ; Beckman, Joshua A JA; Jaffe, Iris Z IZ
Publication Date: 2020-04-24

Variant appearance in text: PSGL-1: Met62Ile
PubMed Link: 32324497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study.

Croatian Medical Journal
Čeri, Andrea A; Leniček Krleža, Jasna J; Coen Herak, Désirée D; Miloš, Marija M; Pavić, Marina M; Barišić, Nina N; Đuranović, Vlasta V; Zadro, Renata R
Publication Date: 2020-02-29

Variant appearance in text: N/A
PubMed Link: 32118374
Variant Present in the following documents:
View BVdb publication page



Translational Genomics in Neurocritical Care: a Review.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Myserlis, Pavlos P; Radmanesh, Farid F; Anderson, Christopher D CD
Publication Date: 2020-04

Variant appearance in text: rs2228315
PubMed Link: 32080794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data In Brief
Totomoch-Serra, Armando A; Domínguez-Cruz, Miriam Givisay MG; Muñoz, María de Lourdes ML; García-Escalante, María Guadalupe MG; Burgueño, Juan J; Díaz-Badillo, Álvaro Á; Valadez-González, Nina N; Escalante, Doris Pinto DP
Publication Date: 2020-02

Variant appearance in text: rs2228315
PubMed Link: 31872004
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics
Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D
Publication Date: 2019

Variant appearance in text: SELPLG: M62I
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: SELPLG: M62I; rs2228315
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM2_ESM.xls, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2228315
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
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: rs2228315
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: N/A
PubMed Link: 30784590
Variant Present in the following documents:
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: SELPLG: M62I; rs2228315
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Polymorphisms in enterovirus 71 receptors associated with susceptibility and clinical severity.

Plos One
Yen, Ting-Yu TY; Shih, Wei-Liang WL; Huang, Yi-Chuan YC; Lee, Jian-Te JT; Huang, Li-Min LM; Chang, Luan-Yin LY
Publication Date: 2018

Variant appearance in text: rs2228315
PubMed Link: 30395634
Variant Present in the following documents:
  • Main text
  • pone.0206769.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: SELPLG: M62I; rs2228315
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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: SELPLG: 186G>A; Met62Ile; rs2228315
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Measuring and interpreting platelet-leukocyte aggregates.

Platelets
Finsterbusch, Michaela M; Schrottmaier, Waltraud C WC; Kral-Pointner, Julia B JB; Salzmann, Manuel M; Assinger, Alice A
Publication Date: 2018-11

Variant appearance in text: PSGL-1: M62I
PubMed Link: 29461910
Variant Present in the following documents:
  • iplt-29-1430358.pdf
View BVdb publication page



Genome-Wide Association Study in African Americans with Acute Respiratory Distress Syndrome Identifies the Selectin P Ligand Gene as a Risk Factor.

American Journal Of Respiratory And Critical Care Medicine
Bime, Christian C; Pouladi, Nima N; Sammani, Saad S; Batai, Ken K; Casanova, Nancy N; Zhou, Tong T; Kempf, Carrie L CL; Sun, Xiaoguang X; Camp, Sara M SM; Wang, Ting T; Kittles, Rick A RA; Lussier, Yves A YA; Jones, Tiffanie K TK; Reilly, John P JP; Meyer, Nuala J NJ; Christie, Jason D JD; Karnes, Jason H JH; Gonzalez-Garay, Manuel M; Christiani, David C DC; Yates, Charles R CR; Wurfel, Mark M MM; Meduri, Gianfranco U GU; Garcia, Joe G N JGN
Publication Date: 2018-06-01

Variant appearance in text: PSGL-1: Met62Ile; rs2228315
PubMed Link: 29425463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic Variations in Cervical Cancers in Indian Patients.

Plos One
Das, Poulami P; Bansal, Akanksha A; Rao, Sudha Narayan SN; Deodhar, Kedar K; Mahantshetty, Umesh U; Shrivastava, Shyam K SK; Sivaraman, Karthikeyan K; Mulherkar, Rita R
Publication Date: 2016

Variant appearance in text: SELPLG: 186G>A; M62I
PubMed Link: 27829003
Variant Present in the following documents:
  • pone.0165878.s001.xlsx, sheet 1
View BVdb publication page



DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One
Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K
Publication Date: 2016

Variant appearance in text: PSGL-1: Met62Ile
PubMed Link: 27073839
Variant Present in the following documents:
  • Main text
  • pone.0152725.pdf
  • pone.0152725.s001.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2228315
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: SELPLG: M62I; rs2228315
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: SELPLG: M62I; rs2228315
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs2228315
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs2228315
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: N/A
PubMed Link: 24705254
Variant Present in the following documents:
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: SELPLG: M62I; rs2228315
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



SELP and SELPLG genetic variation is associated with cell surface measures of SELP and SELPLG: the Atherosclerosis Risk in Communities Carotid MRI Study.

Clinical Chemistry
Volcik, Kelly A KA; Catellier, Diane D; Folsom, Aaron R AR; Matijevic, Nena N; Wasserman, Bruce B; Boerwinkle, Eric E
Publication Date: 2009-06

Variant appearance in text: SELPLG: M62I; rs2228315
PubMed Link: 19395438
Variant Present in the following documents:
  • Main text
View BVdb publication page



Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke: the Atherosclerosis Risk in Communities (ARIC) study.

Atherosclerosis
Volcik, Kelly A KA; Ballantyne, Christie M CM; Coresh, Josef J; Folsom, Aaron R AR; Boerwinkle, Eric E
Publication Date: 2007-11

Variant appearance in text: PSGL-1: M62I; rs2228315
PubMed Link: 17420019
Variant Present in the following documents:
  • Main text
View BVdb publication page