MS4A4A c.532A>G ;(p.M178V)

Variant ID: 11-60070176-A-G

NM_148975.2(MS4A4A):c.532A>G;(p.M178V)

This variant was identified in 39 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: MS4A4A: M178V
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



MS4A4A modifies the risk of Alzheimer disease by regulating lipid metabolism and immune response in a unique microglia state.

Medrxiv : The Preprint Server For Health Sciences
You, Shih-Feng SF; Brase, Logan L; Filipello, Fabia F; Iyer, Abhirami K AK; Del-Aguila, Jorge J; He, June J; D'Oliveira Albanus, Ricardo R; Budde, John J; Norton, Joanne J; Gentsch, Jen J; Dräger, Nina M NM; Sattler, Sydney M SM; Kampmann, Martin M; Piccio, Laura L; Morris, John C JC; Perrin, Richard J RJ; McDade, Eric E; , ; Paul, Steven M SM; Cashikar, Anil G AG; Benitez, Bruno A BA; Harari, Oscar O; Karch, Celeste M CM
Publication Date: 2023-02-08

Variant appearance in text: rs6591561
PubMed Link: 36798226
Variant Present in the following documents:
  • Main text
  • nihpp-2023.02.06.23285545v1.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: MS4A4A: M178V; rs6591561
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: MS4A4A: 532A>G; Met178Val; rs6591561
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: MS4A4A: M178V
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Pathogenesis, therapeutic strategies and biomarker development based on "omics" analysis related to microglia in Alzheimer's disease.

Journal Of Neuroinflammation
Gao, Chao C; Shen, Xin X; Tan, Yuyan Y; Chen, Shengdi S
Publication Date: 2022-09-04

Variant appearance in text: rs6591561
PubMed Link: 36058959
Variant Present in the following documents:
  • Main text
  • 12974_2022_Article_2580.pdf
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: MS4A4A: 532A>G; Met178Val
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
  • Table_1.xlsx, sheet 8
View BVdb publication page



Does Soluble TREM2 Protect Against Alzheimer's Disease?

Frontiers In Aging Neuroscience
Brown, Guy C GC; St George-Hyslop, Peter P
Publication Date: 2021

Variant appearance in text: rs6591561
PubMed Link: 35153729
Variant Present in the following documents:
  • Main text
  • fnagi-13-834697.pdf
View BVdb publication page



Functional insight into LOAD-associated microglial response genes.

Open Biology
Jonas, Lauren A LA; Jain, Tanya T; Li, Yue-Ming YM
Publication Date: 2022-01

Variant appearance in text: rs6591561
PubMed Link: 35078351
Variant Present in the following documents:
  • Main text
  • rsob.210280.pdf
View BVdb publication page



Functional insight into LOAD-associated microglial response genes.

Open Biology
Jonas, Lauren A LA; Jain, Tanya T; Li, Yue-Ming YM
Publication Date: 2022-01

Variant appearance in text: rs6591561
PubMed Link: 35078351
Variant Present in the following documents:
  • Main text
  • rsob.210280.pdf
View BVdb publication page



Genome-Wide Landscape of North-Eastern European Populations: A View from Lithuania.

Genes
Urnikyte, Alina A; Molyte, Alma A; Kučinskas, Vaidutis V
Publication Date: 2021-10-28

Variant appearance in text: rs6591561
PubMed Link: 34828336
Variant Present in the following documents:
  • Main text
  • genes-12-01730.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: MS4A4A: M178V; rs6591561
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: MS4A4A: M178V; rs6591561
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
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: MS4A4A: 532A>G; M178V; rs6591561
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants.

Neurology. Genetics
Schindler, Suzanne E SE; Cruchaga, Carlos C; Joseph, Amulya A; McCue, Lena L; Farias, Fabiana H G FHG; Wilkins, Consuelo H CH; Deming, Yuetiva Y; Henson, Rachel L RL; Mikesell, Robert J RJ; Piccio, Laura L; Llibre-Guerra, Jorge J JJ; Moulder, Krista L KL; Fagan, Anne M AM; Ances, Beau M BM; Benzinger, Tammie L S TLS; Xiong, Chengjie C; Holtzman, David M DM; Morris, John C JC
Publication Date: 2021-04

Variant appearance in text: rs6591561
PubMed Link: 33884297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Human Molecular Genetics
Qin, Wei W; Zhou, Aihong A; Zuo, Xiumei X; Jia, Longfei L; Li, Fangyu F; Wang, Qi Q; Li, Ying Y; Wei, Yiping Y; Jin, Hongmei H; Cruchaga, Carlos C; Benitez, Bruno A BA; Jia, Jianping J
Publication Date: 2021-05-28

Variant appearance in text: rs6591561
PubMed Link: 33835157
Variant Present in the following documents:
  • supplementary_tables_ddab090.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: rs6591561
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: MS4A4A: 532A>G; M178V; rs6591561
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



The Emerging Roles and Therapeutic Potential of Soluble TREM2 in Alzheimer's Disease.

Frontiers In Aging Neuroscience
Zhong, Li L; Chen, Xiao-Fen XF
Publication Date: 2019

Variant appearance in text: rs6591561
PubMed Link: 32038221
Variant Present in the following documents:
  • Main text
  • fnagi-11-00328.pdf
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: MS4A4A: M178V; rs6591561
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.

Science Translational Medicine
Deming, Yuetiva Y; Filipello, Fabia F; Cignarella, Francesca F; Cantoni, Claudia C; Hsu, Simon S; Mikesell, Robert R; Li, Zeran Z; Del-Aguila, Jorge L JL; Dube, Umber U; Farias, Fabiana Geraldo FG; Bradley, Joseph J; Budde, John J; Ibanez, Laura L; Fernandez, Maria Victoria MV; Blennow, Kaj K; Zetterberg, Henrik H; Heslegrave, Amanda A; Johansson, Per M PM; Svensson, Johan J; Nellgård, Bengt B; Lleo, Alberto A; Alcolea, Daniel D; Clarimon, Jordi J; Rami, Lorena L; Molinuevo, José Luis JL; Suárez-Calvet, Marc M; Morenas-Rodríguez, Estrella E; Kleinberger, Gernot G; Ewers, Michael M; Harari, Oscar O; Haass, Christian C; Brett, Thomas J TJ; Benitez, Bruno A BA; Karch, Celeste M CM; Piccio, Laura L; Cruchaga, Carlos C
Publication Date: 2019-08-14

Variant appearance in text: rs6591561
PubMed Link: 31413141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019

Variant appearance in text: rs6591561
PubMed Link: 31410005
Variant Present in the following documents:
  • Main text
  • ndt-15-2003.pdf
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: MS4A4A: M178V; rs6591561
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
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: rs6591561
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Microglia in Alzheimer's Disease: Exploring How Genetics and Phenotype Influence Risk.

Journal Of Molecular Biology
McQuade, Amanda A; Blurton-Jones, Mathew M
Publication Date: 2019-04-19

Variant appearance in text: rs6591561
PubMed Link: 30738892
Variant Present in the following documents:
  • Main text
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: MS4A4A: M178V; rs6591561
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: rs6591561
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: MS4A4A: M178V; rs6591561
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: MS4A4A: M178V; rs6591561
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs6591561
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: MS4A4A: M178V; rs6591561
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
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: MS4A4A: M178V; rs6591561
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



Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study.

International Journal Of Genomics
Diaz-Lacava, A N AN; Walier, M M; Holler, D D; Steffens, M M; Gieger, C C; Furlanello, C C; Lamina, C C; Wichmann, H E HE; Becker, T T
Publication Date: 2015

Variant appearance in text: rs6591561
PubMed Link: 26258132
Variant Present in the following documents:
  • 693193.f1.pdf
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: MS4A4A: M178V; rs6591561
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: MS4A4A: M178V
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
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: MS4A4A: M178V; rs6591561
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: MS4A4A: M178V; rs6591561
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
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: MS4A4A: M178V; rs6591561
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs6591561
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.

Annals Of Human Genetics
Holton, Patrick P; Ryten, Mina M; Nalls, Michael M; Trabzuni, Daniah D; Weale, Michael E ME; Hernandez, Dena D; Crehan, Helen H; Gibbs, J Raphael JR; Mayeux, Richard R; Haines, Jonathan L JL; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Schellenberg, Gerard D GD; , ; Ramirez-Restrepo, Manuel M; Engel, Anzhelika A; Myers, Amanda J AJ; Corneveaux, Jason J JJ; Huentelman, Matthew J MJ; Dillman, Allissa A; Cookson, Mark R MR; Reiman, Eric M EM; Singleton, Andrew A; Hardy, John J; Guerreiro, Rita R
Publication Date: 2013-03

Variant appearance in text: MS4A4A: Met178Val; rs6591561
PubMed Link: 23360175
Variant Present in the following documents:
  • Main text
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