Publications:

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1042A>G; Met348Val

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

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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: rs1184582207

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Pancreatitis severity in mice with impaired CFTR function but pancreatic sufficiency is mediated via ductal and inflammatory cells-Not acinar cells.

Journal Of Cellular And Molecular Medicine

Trapp, Simon S; Aghdassi, Ali A AA; Glaubitz, Juliane J; Sendler, Matthias M; Weiss, Frank Ulrich FU; Kühn, Jens Peter JP; Kromrey, Marie-Luise ML; Mahajan, Ujjwal M UM; Pallagi, Petra P; Rakonczay, Zoltán Z; Venglovecz, Viktória V; Lerch, Markus M MM; Hegyi, Peter P; Mayerle, Julia J

Publication Date: 2021-05

Variant appearance in text: CFTR: M348V

PubMed Link: 33682322

Variant Present in the following documents:

• JCMM-25-4658.pdf

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Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports

Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS

Publication Date: 2019-11-27

Variant appearance in text: CFTR: M348V

PubMed Link: 31776420

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54158.pdf

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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight

Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR

Publication Date: 2018-07-26

Variant appearance in text: CFTR: Met348Val

PubMed Link: 30046002

Variant Present in the following documents:

• Main text

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Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.

Gut

Weiss, F U FU; Simon, P P; Bogdanova, N N; Mayerle, J J; Dworniczak, B B; Horst, J J; Lerch, M M MM

Publication Date: 2005-10

Variant appearance in text: CFTR: M348V

PubMed Link: 15987793

Variant Present in the following documents:

• Main text

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