MIA3 c.3720+21T>G

Variant ID: 1-222823743-T-G

NM_198551.2(MIA3):c.3720+21T>G

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs67180937
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs67180937
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs67180937
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Pathophysiology of Cardiovascular Diseases: New Insights into Molecular Mechanisms of Atherosclerosis, Arterial Hypertension, and Coronary Artery Disease.

Biomedicines
Frąk, Weronika W; Wojtasińska, Armanda A; Lisińska, Wiktoria W; Młynarska, Ewelina E; Franczyk, Beata B; Rysz, Jacek J
Publication Date: 2022-08-10

Variant appearance in text: rs67180937
PubMed Link: 36009488
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01938.pdf
View BVdb publication page



Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)
Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV
Publication Date: 2022-06-09

Variant appearance in text: rs67180937
PubMed Link: 35743896
Variant Present in the following documents:
  • life-12-00865.pdf
View BVdb publication page



MIA SH3 Domain ER Export Factor 3 Deficiency Prevents Neointimal Formation by Restoring BAT-Like PVAT and Decreasing VSMC Proliferation and Migration.

Frontiers In Endocrinology
Lei, Yu Y; Xu, Jianfei J; Li, Mengju M; Meng, Ting T; Chen, Meihua M; Yang, Yongfeng Y; Li, Hongda H; Zhuang, Tao T; Zuo, Junli J
Publication Date: 2021

Variant appearance in text: rs67180937
PubMed Link: 34858331
Variant Present in the following documents:
  • Main text
  • fendo-12-748216.pdf
View BVdb publication page



Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs67180937
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.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: MIA3: 3720+21T>G; rs67180937
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: rs67180937
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: MIA3: 3720+21T>G; rs67180937
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Genetic Regulation of Atherosclerosis-Relevant Phenotypes in Human Vascular Smooth Muscle Cells.

Circulation Research
Aherrahrou, Redouane R; Guo, Liang L; Nagraj, V Peter VP; Aguhob, Aaron A; Hinkle, Jameson J; Chen, Lisa L; Yuhl Soh, Joon J; Lue, Dillon D; Alencar, Gabriel F GF; Boltjes, Arjan A; van der Laan, Sander W SW; Farber, Emily E; Fuller, Daniela D; Anane-Wae, Rita R; Akingbesote, Ngozi N; Manichaikul, Ani W AW; Ma, Lijiang L; Kaikkonen, Minna U MU; Björkegren, Johan L M JLM; Önengüt-Gümüşcü, Suna S; Pasterkamp, Gerard G; Miller, Clint L CL; Owens, Gary K GK; Finn, Aloke A; Navab, Mohamad M; Fogelman, Alan M AM; Berliner, Judith A JA; Civelek, Mete M
Publication Date: 2020-12-04

Variant appearance in text: rs67180937
PubMed Link: 33040646
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: MIA3: 3720+21T>G; rs67180937
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene.

Genome Biology
Lalonde, Simon S; Codina-Fauteux, Valérie-Anne VA; de Bellefon, Sébastian Méric SM; Leblanc, Francis F; Beaudoin, Mélissa M; Simon, Marie-Michelle MM; Dali, Rola R; Kwan, Tony T; Lo, Ken Sin KS; Pastinen, Tomi T; Lettre, Guillaume G
Publication Date: 2019-07-08

Variant appearance in text: rs67180937
PubMed Link: 31287004
Variant Present in the following documents:
  • Main text
  • 13059_2019_Article_1749.pdf
View BVdb publication page



Learning from Longitudinal Data in Electronic Health Record and Genetic Data to Improve Cardiovascular Event Prediction.

Scientific Reports
Zhao, Juan J; Feng, QiPing Q; Wu, Patrick P; Lupu, Roxana A RA; Wilke, Russell A RA; Wells, Quinn S QS; Denny, Joshua C JC; Wei, Wei-Qi WQ
Publication Date: 2019-01-24

Variant appearance in text: rs67180937
PubMed Link: 30679510
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_36745.pdf
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: MIA3: 3720+21T>G; rs67180937
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Tissue-specific Network Analysis of Genetic Variants Associated with Coronary Artery Disease.

Scientific Reports
Miao, Xiao X; Chen, Xinlin X; Xie, Zhijun Z; Lin, Honghuang H
Publication Date: 2018-07-31

Variant appearance in text: rs67180937
PubMed Link: 30065343
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29904.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: rs67180937
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The Genetic Architecture of Coronary Artery Disease: Current Knowledge and Future Opportunities.

Current Atherosclerosis Reports
Hartiala, Jaana J; Schwartzman, William S WS; Gabbay, Julian J; Ghazalpour, Anatole A; Bennett, Brian J BJ; Allayee, Hooman H
Publication Date: 2017-02

Variant appearance in text: rs67180937
PubMed Link: 28130654
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.

Genome Biology
Joehanes, Roby R; Zhang, Xiaoling X; Huan, Tianxiao T; Yao, Chen C; Ying, Sai-Xia SX; Nguyen, Quang Tri QT; Demirkale, Cumhur Yusuf CY; Feolo, Michael L ML; Sharopova, Nataliya R NR; Sturcke, Anne A; Schäffer, Alejandro A AA; Heard-Costa, Nancy N; Chen, Han H; Liu, Po-Ching PC; Wang, Richard R; Woodhouse, Kimberly A KA; Tanriverdi, Kahraman K; Freedman, Jane E JE; Raghavachari, Nalini N; Dupuis, Josée J; Johnson, Andrew D AD; O'Donnell, Christopher J CJ; Levy, Daniel D; Munson, Peter J PJ
Publication Date: 2017-01-25

Variant appearance in text: rs67180937
PubMed Link: 28122634
Variant Present in the following documents:
  • 13059_2016_1142_MOESM1_ESM.pdf
View BVdb publication page



From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.

Circulation Research
Nurnberg, Sylvia T ST; Zhang, Hanrui H; Hand, Nicholas J NJ; Bauer, Robert C RC; Saleheen, Danish D; Reilly, Muredach P MP; Rader, Daniel J DJ
Publication Date: 2016-02-19

Variant appearance in text: rs67180937
PubMed Link: 26892960
Variant Present in the following documents:
  • Main text
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: rs67180937
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.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: rs67180937
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page