CFTR c.37T>G ;(p.S13A)

Variant ID: 7-117120185-T-G

NM_000492.3(CFTR):c.37T>G;(p.S13A)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Molecular dynamics study of tropical calcific pancreatitis (TCP) associated calcium-sensing receptor single nucleotide variation.

Frontiers In Molecular Biosciences
Shrivastava, Ashish A; Mathur, Kartavya K; Verma, Rohit Kumar RK; Jayadev Magani, Sri Krishna SK; Vyas, Deepak Krishna DK; Singh, Ashutosh A
Publication Date: 2022

Variant appearance in text: CFTR: S13A
PubMed Link: 36275616
Variant Present in the following documents:
  • Main text
  • fmolb-09-982831.pdf
View BVdb publication page



Guidelines for the Management of Cholestatic Liver Diseases (2021).

Journal Of Clinical And Translational Hepatology
Lu, Lungen L; ,
Publication Date: 2022-08-28

Variant appearance in text: CFTR: s13a
PubMed Link: 36062287
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonspecific binding of common anti-CFTR antibodies in ciliated cells of human airway epithelium.

Scientific Reports
Sato, Yukiko Y; Mustafina, Kamila R KR; Luo, Yishan Y; Martini, Carolina C; Thomas, David Y DY; Wiseman, Paul W PW; Hanrahan, John W JW
Publication Date: 2021-12-01

Variant appearance in text: CFTR: S13a
PubMed Link: 34853321
Variant Present in the following documents:
  • 41598_2021_Article_2420.pdf
View BVdb publication page



Single-particle diffusional fingerprinting: A machine-learning framework for quantitative analysis of heterogeneous diffusion.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Pinholt, Henrik D HD; Bohr, Søren S-R SS; Iversen, Josephine F JF; Boomsma, Wouter W; Hatzakis, Nikos S NS
Publication Date: 2021-08-03

Variant appearance in text: CFTR: S13A
PubMed Link: 34321355
Variant Present in the following documents:
  • pnas.202104624.pdf
View BVdb publication page



Apoptosis-inducing activity of a fluorescent barrel-rosette M+/Cl- channel.

Chemical Science
Malla, Javid Ahmad JA; Umesh, Rintu M RM; Vijay, Amal A; Mukherjee, Arnab A; Lahiri, Mayurika M; Talukdar, Pinaki P
Publication Date: 2020-01-29

Variant appearance in text: CFTR: S13A
PubMed Link: 34084406
Variant Present in the following documents:
  • Main text
  • SC-011-C9SC06520B.pdf
View BVdb publication page



Long-term live imaging and multiscale analysis identify heterogeneity and core principles of epithelial organoid morphogenesis.

Bmc Biology
Hof, Lotta L; Moreth, Till T; Koch, Michael M; Liebisch, Tim T; Kurtz, Marina M; Tarnick, Julia J; Lissek, Susanna M SM; Verstegen, Monique M A MMA; van der Laan, Luc J W LJW; Huch, Meritxell M; Matthäus, Franziska F; Stelzer, Ernst H K EHK; Pampaloni, Francesco F
Publication Date: 2021-02-24

Variant appearance in text: CFTR: S13a
PubMed Link: 33627108
Variant Present in the following documents:
  • Main text
  • 12915_2021_Article_958.pdf
View BVdb publication page



Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis of flaviviral and cellular multi-pass transmembrane proteins.

Nucleic Acids Research
Campos, Rafael K RK; Wijeratne, H R Sagara HRS; Shah, Premal P; Garcia-Blanco, Mariano A MA; Bradrick, Shelton S SS
Publication Date: 2020-09-25

Variant appearance in text: CFTR: S13A
PubMed Link: 32890404
Variant Present in the following documents:
  • Main text
  • gkaa717.pdf
View BVdb publication page



PTGER3 induces ovary tumorigenesis and confers resistance to cisplatin therapy through up-regulation Ras-MAPK/Erk-ETS1-ELK1/CFTR1 axis.

Ebiomedicine
Rodriguez-Aguayo, Cristian C; Bayraktar, Emine E; Ivan, Cristina C; Aslan, Burcu B; Mai, Junhua J; He, Guangan G; Mangala, Lingegowda S LS; Jiang, Dahai D; Nagaraja, Archana S AS; Ozpolat, Bulent B; Chavez-Reyes, Arturo A; Ferrari, Mauro M; Mitra, Rahul R; Siddik, Zahid H ZH; Shen, Haifa H; Yang, Xianbin X; Sood, Anil K AK; Lopez-Berestein, Gabriel G
Publication Date: 2019-02

Variant appearance in text: CFTR: S13A
PubMed Link: 30655206
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins.

Journal Of Cell Science
Jia, Jieshuang J; Werkmeister, Elisabeth E; Gonzalez-Hilarion, Sara S; Leroy, Catherine C; Gruenert, Dieter C DC; Lafont, Frank F; Tulasne, David D; Lejeune, Fabrice F
Publication Date: 2017-09-15

Variant appearance in text: CFTR: S13A
PubMed Link: 28743738
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transmembrane helical interactions in the CFTR channel pore.

Plos Computational Biology
Das, Jhuma J; Aleksandrov, Andrei A AA; Cui, Liying L; He, Lihua L; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2017-06

Variant appearance in text: CFTR: S13A
PubMed Link: 28640808
Variant Present in the following documents:
  • Main text
  • pcbi.1005594.pdf
View BVdb publication page



Compartment-specific aggregases direct distinct nuclear and cytoplasmic aggregate deposition.

The Embo Journal
Miller, Stephanie B M SB; Ho, Chi-Ting CT; Winkler, Juliane J; Khokhrina, Maria M; Neuner, Annett A; Mohamed, Mohamed Y H MY; Guilbride, D Lys DL; Richter, Karsten K; Lisby, Michael M; Schiebel, Elmar E; Mogk, Axel A; Bukau, Bernd B
Publication Date: 2015-03-12

Variant appearance in text: CFTR: S13A
PubMed Link: 25672362
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting autophagy as a novel strategy for facilitating the therapeutic action of potentiators on ΔF508 cystic fibrosis transmembrane conductance regulator.

Autophagy
Luciani, Alessandro A; Villella, Valeria Rachela VR; Esposito, Speranza S; Gavina, Manuela M; Russo, Ilaria I; Silano, Marco M; Guido, Stefano S; Pettoello-Mantovani, Massimo M; Carnuccio, Rosa R; Scholte, Bob B; De Matteis, Antonella A; Maiuri, Maria Chiara MC; Raia, Valeria V; Luini, Alberto A; Kroemer, Guido G; Maiuri, Luigi L
Publication Date: 2012-11

Variant appearance in text: CFTR: S13A
PubMed Link: 22874563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Human Molecular Genetics
Baradaran-Heravi, Alireza A; Cho, Kyoung Sang KS; Tolhuis, Bas B; Sanyal, Mrinmoy M; Morozova, Olena O; Morimoto, Marie M; Elizondo, Leah I LI; Bridgewater, Darren D; Lubieniecka, Joanna J; Beirnes, Kimberly K; Myung, Clara C; Leung, Danny D; Fam, Hok Khim HK; Choi, Kunho K; Huang, Yan Y; Dionis, Kira Y KY; Zonana, Jonathan J; Keller, Kory K; Stenzel, Peter P; Mayfield, Christy C; Lücke, Thomas T; Bokenkamp, Arend A; Marra, Marco A MA; van Lohuizen, Maarten M; Lewis, David B DB; Shaw, Chad C; Boerkoel, Cornelius F CF
Publication Date: 2012-06-01

Variant appearance in text: CFTR: S13A
PubMed Link: 22378147
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

The Journal Of Clinical Investigation
Thelin, William R WR; Chen, Yun Y; Gentzsch, Martina M; Kreda, Silvia M SM; Sallee, Jennifer L JL; Scarlett, Cameron O CO; Borchers, Christoph H CH; Jacobson, Ken K; Stutts, M Jackson MJ; Milgram, Sharon L SL
Publication Date: 2007-02

Variant appearance in text: CFTR: S13A
PubMed Link: 17235394
Variant Present in the following documents:
  • Main text
View BVdb publication page