POMT2 c.248+402C>T

Variant ID: 14-77786375-G-A

NM_013382.5(POMT2):c.248+402C>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Targeting Glucose Metabolism of Cancer Cells with Dichloroacetate to Radiosensitize High-Grade Gliomas.

International Journal Of Molecular Sciences
Cook, Kristina M KM; Shen, Han H; McKelvey, Kelly J KJ; Gee, Harriet E HE; Hau, Eric E
Publication Date: 2021-07-06

Variant appearance in text: rs7160195
PubMed Link: 34298883
Variant Present in the following documents:
  • Main text
  • ijms-22-07265.pdf
View BVdb publication page



Ethnicity-Dependent Effects of Schizophrenia Risk Variants of the OLIG2 Gene on OLIG2 Transcription and White Matter Integrity.

Schizophrenia Bulletin
Komatsu, Hiroshi H; Takeuchi, Hikaru H; Kikuchi, Yoshie Y; Ono, Chiaki C; Yu, Zhiqian Z; Iizuka, Kunio K; Takano, Yuji Y; Kakuto, Yoshihisa Y; Funakoshi, Shunichi S; Ono, Takashi T; Ito, Junko J; Kunii, Yasuto Y; Hino, Mizuki M; Nagaoka, Atsuko A; Iwasaki, Yasushi Y; Yamamori, Hidenaga H; Yasuda, Yuka Y; Fujimoto, Michiko M; Azechi, Hirotsugu H; Kudo, Noriko N; Hashimoto, Ryota R; Yabe, Hirooki H; Yoshida, Mari M; Saito, Yuko Y; Kakita, Akiyoshi A; Fuse, Nobuo N; Kawashima, Ryuta R; Taki, Yasuyuki Y; Tomita, Hiroaki H
Publication Date: 2020-12-01

Variant appearance in text: rs7160195
PubMed Link: 32285113
Variant Present in the following documents:
  • Main text
View BVdb publication page



GSTZ1 genotypes correlate with dichloroacetate pharmacokinetics and chronic side effects in multiple myeloma patients in a pilot phase 2 clinical trial.

Pharmacology Research & Perspectives
Tian, Dan Dan DD; Bennett, Samuel K SK; Coupland, Lucy A LA; Forwood, Kathryn K; Lwin, Yadanar Y; Pooryousef, Niloofar N; Tea, Illa I; Truong, Thy T TT; Neeman, Teresa T; Crispin, Philip P; D'Rozario, James J; Blackburn, Anneke C AC
Publication Date: 2019-12

Variant appearance in text: rs7160195
PubMed Link: 31624634
Variant Present in the following documents:
  • Main text
  • PRP2-7-e00526.pdf
View BVdb publication page



Age-Related Changes in Expression and Activity of Human Hepatic Mitochondrial Glutathione Transferase Zeta1.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals
Zhong, Guo G; James, Margaret O MO; Smeltz, Marci G MG; Jahn, Stephan C SC; Langaee, Taimour T; Simpson, Pippa P; Stacpoole, Peter W PW
Publication Date: 2018-08

Variant appearance in text: rs7160195
PubMed Link: 29853471
Variant Present in the following documents:
  • Main text
View BVdb publication page



Therapeutic applications of dichloroacetate and the role of glutathione transferase zeta-1.

Pharmacology & Therapeutics
James, Margaret O MO; Jahn, Stephan C SC; Zhong, Guo G; Smeltz, Marci G MG; Hu, Zhiwei Z; Stacpoole, Peter W PW
Publication Date: 2017-02

Variant appearance in text: rs7160195
PubMed Link: 27771434
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic considerations with dichloroacetate dosing.

Pharmacogenomics
James, Margaret O MO; Stacpoole, Peter W PW
Publication Date: 2016-05

Variant appearance in text: rs7160195
PubMed Link: 27143230
Variant Present in the following documents:
  • Main text
View BVdb publication page



The influence of human GSTZ1 gene haplotype variations on GSTZ1 expression.

Pharmacogenetics And Genomics
Langaee, Taimour Y TY; Zhong, Guo G; Li, Wenjun W; Hamadeh, Issam I; Solayman, Mohamed Hassan M MH; McDonough, Caitrin W CW; Stacpoole, Peter W PW; James, Margaret O MO
Publication Date: 2015-05

Variant appearance in text: rs7160195
PubMed Link: 25738370
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotype variations in glutathione transferase zeta 1 influence the kinetics and dynamics of chronic dichloroacetate in children.

Journal Of Clinical Pharmacology
Shroads, A L AL; Coats, B S BS; McDonough, C W CW; Langaee, T T; Stacpoole, P W PW
Publication Date: 2015-01

Variant appearance in text: rs7160195
PubMed Link: 25079374
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phase 1 trial of dichloroacetate (DCA) in adults with recurrent malignant brain tumors.

Investigational New Drugs
Dunbar, E M EM; Coats, B S BS; Shroads, A L AL; Langaee, T T; Lew, A A; Forder, J R JR; Shuster, J J JJ; Wagner, D A DA; Stacpoole, P W PW
Publication Date: 2014-06

Variant appearance in text: rs7160195
PubMed Link: 24297161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Long-term safety of dichloroacetate in congenital lactic acidosis.

Molecular Genetics And Metabolism
Abdelmalak, Monica M; Lew, Alicia A; Ramezani, Ryan R; Shroads, Albert L AL; Coats, Bonnie S BS; Langaee, Taimour T; Shankar, Meena N MN; Neiberger, Richard E RE; Subramony, S H SH; Stacpoole, Peter W PW
Publication Date: 2013-06

Variant appearance in text: rs7160195
PubMed Link: 23611579
Variant Present in the following documents:
  • Main text
View BVdb publication page