TG c.1624_1626delinsTGA ;(p.G542*)

Variant ID: 8-133899241-GGT-TGA

NM_003235.4(TG):c.1624_1626delinsTGA;(p.G542*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


BEAT CF pulmonary exacerbations core protocol for evaluating the management of pulmonary exacerbations in people with cystic fibrosis.

Trials
Schultz, Andre A; McLeod, Charlie C; Berry, Scott S; Marsh, Julie J; McKenzie, Anne A; Messer, Mitch M; Wood, Jamie J; Saville, Ben B; Jaffe, Adam A; Ranganathan, Sarath S; Stick, Steve S; Wark, Peter P; Webb, Steve S; Snelling, Tom T
Publication Date: 2023-03-22

Variant appearance in text: TG: G542X
PubMed Link: 36949472
Variant Present in the following documents:
  • 13063_2023_7076_MOESM2_ESM.pdf
View BVdb publication page



Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Publication Date: 2022-11-22

Variant appearance in text: TG: G542X
PubMed Link: 36455558
Variant Present in the following documents:
  • nihms-1852590.pdf
View BVdb publication page



Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology
Terlizzi, V V; Francalanci, M M; Taccetti, G G
Publication Date: 2021-11-15

Variant appearance in text: TG: G542X
PubMed Link: 34852971
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology
Terlizzi, V V; Francalanci, M M; Taccetti, G G
Publication Date: 2022

Variant appearance in text: TG: G542X
PubMed Link: 34852971
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: TG: Gly542Ter
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Prime editing - an update on the field.

Gene Therapy
Scholefield, Janine J; Harrison, Patrick T PT
Publication Date: 2021-08

Variant appearance in text: TG: G542X
PubMed Link: 34031549
Variant Present in the following documents:
  • 41434_2021_Article_263.pdf
View BVdb publication page



Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications
Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S
Publication Date: 2020-09-14

Variant appearance in text: TG: G542X
PubMed Link: 32929070
Variant Present in the following documents:
  • 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
Publication Date: 2002

Variant appearance in text: TG: G542X
PubMed Link: 32226145
Variant Present in the following documents:
  • 112_2002_Article_1.pdf
View BVdb publication page



Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics
Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K
Publication Date: 2018-02-13

Variant appearance in text: TG: G542*
PubMed Link: 29504914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Nature Genetics
Pol, Arjan A; Renkema, G Herma GH; Tangerman, Albert A; Winkel, Edwin G EG; Engelke, Udo F UF; de Brouwer, Arjan P M APM; Lloyd, Kent C KC; Araiza, Renee S RS; van den Heuvel, Lambert L; Omran, Heymut H; Olbrich, Heike H; Oude Elberink, Marijn M; Gilissen, Christian C; Rodenburg, Richard J RJ; Sass, Jörn Oliver JO; Schwab, K Otfried KO; Schäfer, Hendrik H; Venselaar, Hanka H; Sequeira, J Silvia JS; Op den Camp, Huub J M HJM; Wevers, Ron A RA
Publication Date: 2018-01

Variant appearance in text: TG: G542*
PubMed Link: 29255262
Variant Present in the following documents:
  • NIHMS74866-supplement-Supplementary_table_1.xlsx, sheet 2
View BVdb publication page



Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His.

Erj Open Research
Shteinberg, Michal M; Downey, Damian G DG; Beattie, Diane D; McCaughan, John J; Reid, Alastair A; Stein, Nili N; Elborn, J Stuart JS
Publication Date: 2017-01

Variant appearance in text: TG: Gly542X
PubMed Link: 28845426
Variant Present in the following documents:
  • Main text
  • 00056-2016.pdf
View BVdb publication page



Interferon response of the cystic fibrosis bronchial epithelium to major and minor group rhinovirus infection.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Schögler, Aline A; Stokes, Andrea B AB; Casaulta, Carmen C; Regamey, Nicolas N; Edwards, Michael R MR; Johnston, Sebastian L SL; Jung, Andreas A; Moeller, Alexander A; Geiser, Thomas T; Alves, Marco P MP
Publication Date: 2016-05

Variant appearance in text: TG: G542X
PubMed Link: 26613982
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Plos One
Schippa, Serena S; Iebba, Valerio V; Santangelo, Floriana F; Gagliardi, Antonella A; De Biase, Riccardo Valerio RV; Stamato, Antonella A; Bertasi, Serenella S; Lucarelli, Marco M; Conte, Maria Pia MP; Quattrucci, Serena S
Publication Date: 2013

Variant appearance in text: TG: G542X
PubMed Link: 23613805
Variant Present in the following documents:
  • Main text
  • pone.0061176.pdf
View BVdb publication page



Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd
Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C
Publication Date: 2008-09

Variant appearance in text: TG: G542X
PubMed Link: 18687795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms.

The Journal Of Molecular Diagnostics : Jmd
Hadd, Andrew G AG; Laosinchai-Wolf, Walairat W; Novak, Chris R CR; Badgett, Marty R MR; Isgur, Lesley A LA; Goldrick, Marianna M; Walkerpeach, Cindy R CR
Publication Date: 2004-11

Variant appearance in text: TG: G542X
PubMed Link: 15507674
Variant Present in the following documents:
  • Main text
View BVdb publication page