CFTR c.52_53delinsGC ;(p.S18A)

Variant ID: 7-117120200-AG-GC

NM_000492.3(CFTR):c.52_53delinsGC;(p.S18A)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: CFTR/MRP: S18A
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Development and Functional Characterization of Fetal Lung Organoids.

Frontiers In Medicine
Laube, Mandy M; Pietsch, Soeren S; Pannicke, Thomas T; Thome, Ulrich H UH; Fabian, Claire C
Publication Date: 2021

Variant appearance in text: CFTR: S18a
PubMed Link: 34552939
Variant Present in the following documents:
  • Main text
  • fmed-08-678438.pdf
View BVdb publication page



Cyto-biological effects of microRNA-424-5p on human colorectal cancer cells.

Oncology Letters
Yan, Weitao W; Jiang, Xia X; Wang, Guiqi G; Li, Wei W; Zhai, Congjie C; Chen, Shihao S; Shang, Fangjian F; Zhao, Zengren Z; Yu, Weifang W
Publication Date: 2020-10

Variant appearance in text: CFTR: S18A
PubMed Link: 32863933
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Prioritization and functional assessment of noncoding variants associated with complex diseases.

Genome Medicine
Zhou, Lin L; Zhao, Fangqing F
Publication Date: 2018-07-11

Variant appearance in text: CFTR: S18A
PubMed Link: 29996888
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_565.pdf
View BVdb publication page



Signaling Cascade Involved in Rapid Stimulation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Dexamethasone.

International Journal Of Molecular Sciences
Bossmann, Miriam M; Ackermann, Benjamin W BW; Thome, Ulrich H UH; Laube, Mandy M
Publication Date: 2017-08-19

Variant appearance in text: CFTR: S18a
PubMed Link: 28825630
Variant Present in the following documents:
  • Main text
  • ijms-18-01807.pdf
View BVdb publication page



Nanopore-Based Target Sequence Detection.

Plos One
Morin, Trevor J TJ; Shropshire, Tyler T; Liu, Xu X; Briggs, Kyle K; Huynh, Cindy C; Tabard-Cossa, Vincent V; Wang, Hongyun H; Dunbar, William B WB
Publication Date: 2016

Variant appearance in text: CFTR: S18a
PubMed Link: 27149679
Variant Present in the following documents:
  • pone.0154426.s009.pdf
View BVdb publication page



Glucocorticoids Distinctively Modulate the CFTR Channel with Possible Implications in Lung Development and Transition into Extrauterine Life.

Plos One
Laube, Mandy M; Bossmann, Miriam M; Thome, Ulrich H UH
Publication Date: 2015

Variant appearance in text: CFTR: S18a
PubMed Link: 25910246
Variant Present in the following documents:
  • Main text
  • pone.0124833.pdf
View BVdb publication page



Significantly fewer protein functional changing variants for lipid metabolism in Africans than in Europeans.

Journal Of Translational Medicine
Xue, Cheng C; Liu, Xiaoming X; Gong, Yun Y; Zhao, Yuhai Y; Fu, Yun-Xin YX
Publication Date: 2013-03-20

Variant appearance in text: CFTR/MRP: S18A
PubMed Link: 23514131
Variant Present in the following documents:
View BVdb publication page



Angiotensin II facilitates breast cancer cell migration and metastasis.

Plos One
Rodrigues-Ferreira, Sylvie S; Abdelkarim, Mohamed M; Dillenburg-Pilla, Patricia P; Luissint, Anny-Claude AC; di-Tommaso, Anne A; Deshayes, Frédérique F; Pontes, Carmen Lucia S CL; Molina, Angie A; Cagnard, Nicolas N; Letourneur, Franck F; Morel, Marina M; Reis, Rosana I RI; Casarini, Dulce E DE; Terris, Benoit B; Couraud, Pierre-Olivier PO; Costa-Neto, Claudio M CM; Di Benedetto, Mélanie M; Nahmias, Clara C
Publication Date: 2012

Variant appearance in text: CFTR/MRP: S18A
PubMed Link: 22536420
Variant Present in the following documents:
View BVdb publication page