CFTR c.28_29delinsGA ;(p.S10D)

Variant ID: 7-117120176-AG-GA

NM_000492.3(CFTR):c.28_29delinsGA;(p.S10D)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Easy-to-Build and Reusable Microfluidic Device for the Dynamic Culture of Human Bronchial Cystic Fibrosis Epithelia.

Acs Biomaterials Science & Engineering
Mazio, Claudia C; Scognamiglio, Laura S LS; Passariello, Roberta R; Panzetta, Valeria V; Casale, Costantino C; Urciuolo, Francesco F; Galietta, Luis J V LJV; Imparato, Giorgia G; Netti, Paolo A PA
Publication Date: 2023-04-05

Variant appearance in text: CFTR: S10D
PubMed Link: 37019688
Variant Present in the following documents:
  • Main text
  • ab2c01460.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: S10D
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: S10D
PubMed Link: 36516754
Variant Present in the following documents:
  • Main text
  • nihms-1857905.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: S10D
PubMed Link: 36276637
Variant Present in the following documents:
  • thnov12p6865.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: S10D
PubMed Link: 35670667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Genomic Profiling of Neuroendocrine Carcinomas of the Gastrointestinal System.

Cancer Discovery
Yachida, Shinichi S; Totoki, Yasushi Y; Noë, Michaël M; Nakatani, Yoichiro Y; Horie, Masafumi M; Kawasaki, Kenta K; Nakamura, Hiromi H; Saito-Adachi, Mihoko M; Suzuki, Masami M; Takai, Erina E; Hama, Natsuko N; Higuchi, Ryota R; Hirono, Seiko S; Shiba, Satoshi S; Kato, Mamoru M; Furukawa, Eisaku E; Arai, Yasuhito Y; Rokutan, Hirofumi H; Hashimoto, Taiki T; Mitsunaga, Shuichi S; Kanda, Mitsuro M; Tanaka, Hidenori H; Takata, So S; Shimomura, Ayaka A; Oshima, Minoru M; Hackeng, Wenzel M WM; Okumura, Tomoyuki T; Okano, Keiichi K; Yamamoto, Masakazu M; Yamaue, Hiroki H; Morizane, Chigusa C; Arihiro, Koji K; Furukawa, Toru T; Sato, Toshiro T; Kiyono, Tohru T; Brosens, Lodewijk A A LAA; Wood, Laura D LD; Hruban, Ralph H RH; Shibata, Tatsuhiro T
Publication Date: 2022-03-01

Variant appearance in text: CFTR: S10D
PubMed Link: 34880079
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: S10d
PubMed Link: 34853321
Variant Present in the following documents:
  • 41598_2021_Article_2420.pdf
View BVdb publication page



Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis.

Clinical Epigenetics
Bazzocco, Sarah S; Dopeso, Higinio H; Martínez-Barriocanal, Águeda Á; Anguita, Estefanía E; Nieto, Rocío R; Li, Jing J; García-Vidal, Elia E; Maggio, Valentina V; Rodrigues, Paulo P; de Marcondes, Priscila Guimarães PG; Schwartz, Simo S; Aaltonen, Lauri A LA; Sánchez, Alex A; Mariadason, John M JM; Arango, Diego D
Publication Date: 2021-04-23

Variant appearance in text: CFTR: S10d
PubMed Link: 33892786
Variant Present in the following documents:
  • Main text
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: S10D
PubMed Link: 28877023
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S10D
PubMed Link: 26735904
Variant Present in the following documents:
  • pbio.1002338.pdf
View BVdb publication page