CSMD3 c.3310+1586A>G

Variant ID: 8-113655752-T-C

NM_198123.1(CSMD3):c.3310+1586A>G

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Influence of Genetic Variations in miRNA and Genes Encoding Proteins in the miRNA Synthesis Complex on Toxicity of the Treatment of Pediatric B-Cell ALL in the Brazilian Amazon.

International Journal Of Molecular Sciences
da Silva Menezes, Elisa E; de Moraes, Francisco Cezar Aquino FCA; de Nazaré Cohen-Paes, Amanda A; Wanderley, Alayde Vieira AV; Pereira, Esdras Edgar Batista EEB; Pastana, Lucas Favacho LF; Modesto, Antônio André Conde AAC; de Assumpção, Paulo Pimentel PP; Burbano, Rommel Mario Rodríguez RMR; Dos Santos, Sidney Emanuel Batista SEB; Dos Santos, Ney Pereira Carneiro NPC; Fernandes, Marianne Rodrigues MR
Publication Date: 2023-02-23

Variant appearance in text: rs10505168
PubMed Link: 36901860
Variant Present in the following documents:
  • Main text
  • ijms-24-04431.pdf
View BVdb publication page



Genetic Variants of MicroRNA and DROSHA Genes in Association With the Risk of Tuberculosis in the Amazon Population.

Frontiers In Genetics
Leal, Diana Feio da Veiga Borges DFDVB; Santana da Silva, Mayara Natália MN; Pastana, Lucas Favacho LF; Fernandes, Marianne Rodrigues MR; de Athayde, Aidalucy do Socorro Costa ADSC; Fernandes Porchera, Débora Christina Ricardo DCR; da Silva, Cleonardo Augusto CA; Modesto, Antônio André Conde AAC; De Assumpcão, Paulo Pimentel PP; Dos Santos, Sidney Emanuel Batista SEB; Dos Santos, Ney Pereira Carneiro NPC
Publication Date: 2022

Variant appearance in text: rs10505168
PubMed Link: 35309115
Variant Present in the following documents:
  • Main text
  • fgene-13-850058.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: CSMD3: 3310+1586A>G; rs10505168
PubMed Link: 34054912
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: rs10505168
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
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs10505168
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 24
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 22
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 21
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Oral mucositis: the hidden side of cancer therapy.

Journal Of Experimental & Clinical Cancer Research : Cr
Pulito, Claudio C; Cristaudo, Antonio A; Porta, Caterina La C; Zapperi, Stefano S; Blandino, Giovanni G; Morrone, Aldo A; Strano, Sabrina S
Publication Date: 2020-10-07

Variant appearance in text: rs10505168
PubMed Link: 33028357
Variant Present in the following documents:
  • Main text
  • 13046_2020_Article_1715.pdf
View BVdb publication page



Pharmacogenomics as a Tool to Limit Acute and Long-Term Adverse Effects of Chemotherapeutics: An Update in Pediatric Oncology.

Frontiers In Pharmacology
Bernsen, Emma C EC; Hagleitner, Melanie M MM; Kouwenberg, Theodorus W TW; Hanff, Lidwien M LM
Publication Date: 2020

Variant appearance in text: rs10505168
PubMed Link: 32848787
Variant Present in the following documents:
  • Table_1.pdf
View BVdb publication page



rs12416605:C>T in MIR938 associates with gastric cancer through affecting the regulation of the CXCL12 chemokine gene.

Molecular Genetics & Genomic Medicine
Torruella-Loran, Ignasi I; Ramirez Viña, María Karla MK; Zapata-Contreras, Daniela D; Muñoz, Xavier X; Garcia-Ramallo, Eva E; Bonet, Catalina C; Gonzalez, Carlos A CA; Sala, Núria N; Espinosa-Parrilla, Yolanda Y; ,
Publication Date: 2019-08

Variant appearance in text: rs10505168
PubMed Link: 31273931
Variant Present in the following documents:
  • Main text
  • MGG3-7-e832.pdf
View BVdb publication page



Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population.

Scientific Reports
Martin-Guerrero, Idoia I; Bilbao-Aldaiturriaga, Nerea N; Gutierrez-Camino, Angela A; Santos-Zorrozua, Borja B; Dolžan, Vita V; Patiño-Garcia, Ana A; Garcia-Orad, Africa A
Publication Date: 2018-10-18

Variant appearance in text: rs10505168
PubMed Link: 30337581
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_33712.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: CSMD3: 3310+1586A>G; rs10505168
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.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: rs10505168
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: rs10505168
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs10505168
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Pharmacogenetics of microRNAs and microRNAs biogenesis machinery in pediatric acute lymphoblastic leukemia.

Plos One
López-López, Elixabet E; Gutiérrez-Camino, Ángela Á; Piñán, Maria Ángeles MÁ; Sánchez-Toledo, José J; Uriz, Jose Javier JJ; Ballesteros, Javier J; García-Miguel, Purificación P; Navajas, Aurora A; García-Orad, África Á
Publication Date: 2014

Variant appearance in text: rs10505168
PubMed Link: 24614921
Variant Present in the following documents:
  • Main text
  • pone.0091261.pdf
View BVdb publication page