CFTR c.28A>T ;(p.S10C)

Variant ID: 7-117120176-A-T

NM_000492.3(CFTR):c.28A>T;(p.S10C)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Novel insights in the pathomechanism of Brugada syndrome and fever-related type 1 ECG changes in a preclinical study using human-induced pluripotent stem cell-derived cardiomyocytes.

Clinical And Translational Medicine
Li, Yingrui Y; Dinkel, Hendrik H; Pakalniskyte, Dalia D; Busley, Alexandra Viktoria AV; Cyganek, Lukas L; Zhong, Rujia R; Zhang, Feng F; Xu, Qiang Q; Maywald, Lasse L; Aweimer, Assem A; Huang, Mengying M; Liao, Zhenxing Z; Meng, Zenghui Z; Yan, Chen C; Prädel, Timo T; Rose, Lena L; Moscu-Gregor, Alexander A; Hohn, Alyssa A; Yang, Zhen Z; Qiao, Lin L; Mügge, Andreas A; Zhou, Xiaobo X; Akin, Ibrahim I; El-Battrawy, Ibrahim I
Publication Date: 2023-03

Variant appearance in text: CFTR: S10C
PubMed Link: 36881552
Variant Present in the following documents:
  • CTM2-13-e1130.pdf
View BVdb publication page



Cystic fibrosis rabbits develop spontaneous hepatobiliary lesions and CF-associated liver disease (CFLD)-like phenotypes.

Pnas Nexus
Wu, Qingtian Q; Liang, Xiubin X; Hou, Xia X; Song, Zhenfeng Z; Bouhamdan, Mohamad M; Qiu, Yining Y; Koike, Yui Y; Rajagopalan, Carthic C; Wei, Hong-Guang HG; Jiang, Hong H; Hish, Gerry G; Zhang, Jifeng J; Chen, Y Eugene YE; Jin, Jian-Ping JP; Xu, Jie J; Zhang, Kezhong K; Sun, Fei F
Publication Date: 2023-01

Variant appearance in text: CFTR: S10C
PubMed Link: 36712930
Variant Present in the following documents:
  • Main text
  • pgac306.pdf
View BVdb publication page



Recruited monocytes/macrophages drive pulmonary neutrophilic inflammation and irreversible lung tissue remodeling in cystic fibrosis.

Cell Reports
Öz, Hasan H HH; Cheng, Ee-Chun EC; Di Pietro, Caterina C; Tebaldi, Toma T; Biancon, Giulia G; Zeiss, Caroline C; Zhang, Ping-Xia PX; Huang, Pamela H PH; Esquibies, Sofia S SS; Britto, Clemente J CJ; Schupp, Jonas C JC; Murray, Thomas S TS; Halene, Stephanie S; Krause, Diane S DS; Egan, Marie E ME; Bruscia, Emanuela M EM
Publication Date: 2022-12-13

Variant appearance in text: CFTR: S10C
PubMed Link: 36516754
Variant Present in the following documents:
  • Main text
  • nihms-1857905.pdf
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Tail Wags Dog's SINE: Retropositional Mechanisms of Can SINE Depend on Its A-Tail Structure.

Biology
Kosushkin, Sergei A SA; Ustyantsev, Ilia G IG; Borodulina, Olga R OR; Vassetzky, Nikita S NS; Kramerov, Dmitri A DA
Publication Date: 2022-09-26

Variant appearance in text: CFTR: S10C
PubMed Link: 36290307
Variant Present in the following documents:
  • Main text
  • biology-11-01403.pdf
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Identifying the E2F3-MEX3A-KLF4 signaling axis that sustains cancer cells in undifferentiated and proliferative state.

Theranostics
Yang, Xu X; Li, Guilin G; Tian, Yuhua Y; Wang, Xin X; Xu, Jiuzhi J; Liu, Ruiqi R; Deng, Min M; Shao, Chunlei C; Pan, Yuwei Y; Wu, Xi X; Li, Mengzhen M; Zhang, Chaowei C; Liu, Rui R; Qin, Jun J; Zhang, Chen C; Liu, Zhanju Z; Wu, Xin X; Plikus, Maksim V MV; Lengner, Christopher J CJ; Zheng, Zongheng Z; Lv, Cong C; Yu, Zhengquan Z
Publication Date: 2022

Variant appearance in text: CFTR: S10C
PubMed Link: 36276637
Variant Present in the following documents:
  • thnov12p6865.pdf
View BVdb publication page



TMED3 Complex Mediates ER Stress-Associated Secretion of CFTR, Pendrin, and SARS-CoV-2 Spike.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Park, Hak H; Seo, Soo Kyung SK; Sim, Ju-Ri JR; Hwang, Su Jin SJ; Kim, Ye Jin YJ; Shin, Dong Hoon DH; Jang, Dong Geon DG; Noh, Shin Hye SH; Park, Pil-Gu PG; Ko, Si Hwan SH; Shin, Mi Hwa MH; Choi, Jae Young JY; Ito, Yukishige Y; Kang, Chung-Min CM; Lee, Jae Myun JM; Lee, Min Goo MG
Publication Date: 2022-08

Variant appearance in text: CFTR: S10C
PubMed Link: 35748162
Variant Present in the following documents:
  • ADVS-9999-0.pdf
  • ADVS-9-2105320.pdf
View BVdb publication page



Functional coupling between TRPV4 channel and TMEM16F modulates human trophoblast fusion.

Elife
Zhang, Yang Y; Liang, Pengfei P; Yang, Liheng L; Shan, Ke Zoe KZ; Feng, Liping L; Chen, Yong Y; Liedtke, Wolfgang W; Coyne, Carolyn B CB; Yang, Huanghe H
Publication Date: 2022-06-07

Variant appearance in text: CFTR: S10C
PubMed Link: 35670667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantitative cross-species translators of cardiac myocyte electrophysiology: Model training, experimental validation, and applications.

Science Advances
Morotti, Stefano S; Liu, Caroline C; Hegyi, Bence B; Ni, Haibo H; Fogli Iseppe, Alex A; Wang, Lianguo L; Pritoni, Marco M; Ripplinger, Crystal M CM; Bers, Donald M DM; Edwards, Andrew G AG; Grandi, Eleonora E
Publication Date: 2021-11-19

Variant appearance in text: CFTR: S10C
PubMed Link: 34788089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aging, inflammation and DNA damage in the somatic testicular niche with idiopathic germ cell aplasia.

Nature Communications
Alfano, Massimo M; Tascini, Anna Sofia AS; Pederzoli, Filippo F; Locatelli, Irene I; Nebuloni, Manuela M; Giannese, Francesca F; Garcia-Manteiga, Jose Manuel JM; Tonon, Giovanni G; Amodio, Giada G; Gregori, Silvia S; Agresti, Alessandra A; Montorsi, Francesco F; Salonia, Andrea A
Publication Date: 2021-09-01

Variant appearance in text: CFTR: S10c
PubMed Link: 34471128
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_25544.pdf
View BVdb publication page



Molecular insights into the human ABCB6 transporter.

Cell Discovery
Song, Guangyuan G; Zhang, Sensen S; Tian, Mengqi M; Zhang, Laixing L; Guo, Runyu R; Zhuo, Wei W; Yang, Maojun M
Publication Date: 2021-07-27

Variant appearance in text: CFTR: S10c
PubMed Link: 34312373
Variant Present in the following documents:
  • Main text
  • 41421_2021_Article_284.pdf
View BVdb publication page



Inhibition of α-, β- and γ-carbonic anhydrases from the pathogenic bacterium Vibrio cholerae with aromatic sulphonamides and clinically licenced drugs - a joint docking/molecular dynamics study.

Journal Of Enzyme Inhibition And Medicinal Chemistry
Bonardi, Alessandro A; Nocentini, Alessio A; Osman, Sameh Mohamed SM; Alasmary, Fatmah Ali FA; Almutairi, Tahani Mazyad TM; Abdullah, Dalal Saied DS; Gratteri, Paola P; Supuran, Claudiu T CT
Publication Date: 2021-12

Variant appearance in text: CFTR: S10C
PubMed Link: 33472446
Variant Present in the following documents:
  • Main text
  • IENZ_36_1862102.pdf
View BVdb publication page



HIFI: estimating DNA-DNA interaction frequency from Hi-C data at restriction-fragment resolution.

Genome Biology
Cameron, Christopher Jf CJ; Dostie, Josée J; Blanchette, Mathieu M
Publication Date: 2020-01-14

Variant appearance in text: CFTR: S10C
PubMed Link: 31937349
Variant Present in the following documents:
  • Main text
  • 13059_2019_Article_1913.pdf
View BVdb publication page



Airway Mucin Concentration as a Marker of Chronic Bronchitis.

The New England Journal Of Medicine
Kesimer, Mehmet M; Ford, Amina A AA; Ceppe, Agathe A; Radicioni, Giorgia G; Cao, Rui R; Davis, C William CW; Doerschuk, Claire M CM; Alexis, Neil E NE; Anderson, Wayne H WH; Henderson, Ashley G AG; Barr, R Graham RG; Bleecker, Eugene R ER; Christenson, Stephanie A SA; Cooper, Christopher B CB; Han, MeiLan K MK; Hansel, Nadia N NN; Hastie, Annette T AT; Hoffman, Eric A EA; Kanner, Richard E RE; Martinez, Fernando F; Paine, Robert R; Woodruff, Prescott G PG; O'Neal, Wanda K WK; Boucher, Richard C RC
Publication Date: 2017-09-07

Variant appearance in text: CFTR: S10C
PubMed Link: 28877023
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling.

Gut
Hohwieler, Meike M; Illing, Anett A; Hermann, Patrick C PC; Mayer, Tobias T; Stockmann, Marianne M; Perkhofer, Lukas L; Eiseler, Tim T; Antony, Justin S JS; Müller, Martin M; Renz, Susanne S; Kuo, Chao-Chung CC; Lin, Qiong Q; Sendler, Matthias M; Breunig, Markus M; Kleiderman, Susanne M SM; Lechel, André A; Zenker, Martin M; Leichsenring, Michael M; Rosendahl, Jonas J; Zenke, Martin M; Sainz, Bruno B; Mayerle, Julia J; Costa, Ivan G IG; Seufferlein, Thomas T; Kormann, Michael M; Wagner, Martin M; Liebau, Stefan S; Kleger, Alexander A
Publication Date: 2017-03

Variant appearance in text: CFTR: S10C
PubMed Link: 27633923
Variant Present in the following documents:
  • gutjnl-2016-312423.pdf
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Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.

Bmc Biology
Bruun, Gitte H GH; Doktor, Thomas K TK; Borch-Jensen, Jonas J; Masuda, Akio A; Krainer, Adrian R AR; Ohno, Kinji K; Andresen, Brage S BS
Publication Date: 2016-07-05

Variant appearance in text: CFTR: S10C
PubMed Link: 27380775
Variant Present in the following documents:
  • Main text
  • 12915_2016_Article_279.pdf
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ALS-Causing Mutations Significantly Perturb the Self-Assembly and Interaction with Nucleic Acid of the Intrinsically Disordered Prion-Like Domain of TDP-43.

Plos Biology
Lim, Liangzhong L; Wei, Yuanyuan Y; Lu, Yimei Y; Song, Jianxing J
Publication Date: 2016-01

Variant appearance in text: CFTR: S10C
PubMed Link: 26735904
Variant Present in the following documents:
  • pbio.1002338.pdf
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COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.

Molecular Biology Of The Cell
Phillips-Krawczak, Christine A CA; Singla, Amika A; Starokadomskyy, Petro P; Deng, Zhihui Z; Osborne, Douglas G DG; Li, Haiying H; Dick, Christopher J CJ; Gomez, Timothy S TS; Koenecke, Megan M; Zhang, Jin-San JS; Dai, Haiming H; Sifuentes-Dominguez, Luis F LF; Geng, Linda N LN; Kaufmann, Scott H SH; Hein, Marco Y MY; Wallis, Mathew M; McGaughran, Julie J; Gecz, Jozef J; Sluis, Bart van de Bv; Billadeau, Daniel D DD; Burstein, Ezra E
Publication Date: 2015-01-01

Variant appearance in text: CFTR: S10C
PubMed Link: 25355947
Variant Present in the following documents:
  • 91.pdf
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Gene transfection in high serum levels: case studies with new cholesterol based cationic gemini lipids.

Plos One
Misra, Santosh K SK; Biswas, Joydeep J; Kondaiah, Paturu P; Bhattacharya, Santanu S
Publication Date: 2013

Variant appearance in text: CFTR: S10C
PubMed Link: 23861884
Variant Present in the following documents:
  • pone.0068305.pdf
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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: S10C
PubMed Link: 22378147
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chemical and biological approaches synergize to ameliorate protein-folding diseases.

Cell
Mu, Ting-Wei TW; Ong, Derrick Sek Tong DS; Wang, Ya-Juan YJ; Balch, William E WE; Yates, John R JR; Segatori, Laura L; Kelly, Jeffery W JW
Publication Date: 2008-09-05

Variant appearance in text: CFTR: S10C
PubMed Link: 18775310
Variant Present in the following documents:
  • Main text
View BVdb publication page