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Items: 1 to 20 of 1533

1.

Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells.

Sutanto EN, Scaffidi A, Garratt LW, Looi K, Foo CJ, Tessari MA, Janssen RA, Fischer DF, Stick SM, Kicic A; AREST CF.

PLoS One. 2018 Jan 23;13(1):e0191618. doi: 10.1371/journal.pone.0191618. eCollection 2018.

2.

Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

Ortiz SC, Aguirre SJ, Flores S, Maldonado C, Mejía J, Salinas L.

Mol Genet Genomic Med. 2017 Nov;5(6):751-757. doi: 10.1002/mgg3.337. Epub 2017 Oct 11.

3.

Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.

Furgeri DT, Marson FAL, Correia CAA, Ribeiro JD, Bertuzzo CS.

Gene. 2018 Jan 30;641:137-143. doi: 10.1016/j.gene.2017.10.052. Epub 2017 Oct 18.

PMID:
29054758
4.

CFTR Influences Beta Cell Function and Insulin Secretion Through Non-Cell Autonomous Exocrine-Derived Factors.

Sun X, Yi Y, Xie W, Liang B, Winter MC, He N, Liu X, Luo M, Yang Y, Ode KL, Uc A, Norris AW, Engelhardt JF.

Endocrinology. 2017 Oct 1;158(10):3325-3338. doi: 10.1210/en.2017-00187.

PMID:
28977592
5.

Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.

Sorum B, Töröcsik B, Csanády L.

Elife. 2017 Sep 25;6. pii: e29013. doi: 10.7554/eLife.29013.

6.

Association between F508 deletion in CFTR and chronic pancreatitis risk.

Zhao D, Xu Y, Li J, Fu S, Xiao F, Song X, Xie Z, Jiang M, He Y, Liu C, Wen Q, Yang X.

Dig Liver Dis. 2017 Sep;49(9):967-972. doi: 10.1016/j.dld.2017.06.013. Epub 2017 Jul 1. Review.

PMID:
28780053
7.

A new insight into CFTR allele frequency in Brazil through next generation sequencing.

Nunes LM, Ribeiro R, Niewiadonski VDT, Sabino E, Yamamoto GL, Bertola DR, Gaburo N, da Silva Filho LVRF.

Pediatr Pulmonol. 2017 Oct;52(10):1300-1305. doi: 10.1002/ppul.23774. Epub 2017 Aug 3.

PMID:
28771972
8.

Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

Vernon RM, Chong PA, Lin H, Yang Z, Zhou Q, Aleksandrov AA, Dawson JE, Riordan JR, Brouillette CG, Thibodeau PH, Forman-Kay JD.

J Biol Chem. 2017 Aug 25;292(34):14147-14164. doi: 10.1074/jbc.M116.772335. Epub 2017 Jun 27.

PMID:
28655774
9.

Restoration of CFTR Activity in Ducts Rescues Acinar Cell Function and Reduces Inflammation in Pancreatic and Salivary Glands of Mice.

Zeng M, Szymczak M, Ahuja M, Zheng C, Yin H, Swaim W, Chiorini JA, Bridges RJ, Muallem S.

Gastroenterology. 2017 Oct;153(4):1148-1159. doi: 10.1053/j.gastro.2017.06.011. Epub 2017 Jun 19.

PMID:
28634110
10.

A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient.

Liu K, Liu Y, Li X, Xu KF, Tian X, Zhang X.

Mol Genet Genomics. 2017 Oct;292(5):1083-1089. doi: 10.1007/s00438-017-1334-0. Epub 2017 Jun 15.

PMID:
28620757
11.

Patients with Cystic Fibrosis and a G551D or Homozygous F508del Mutation: Similar Lung Function Decline.

Sawicki GS, McKone EF, Millar SJ, Pasta DJ, Konstan MW, Lubarsky B, Wagener JS.

Am J Respir Crit Care Med. 2017 Jun 15;195(12):1673-1676. doi: 10.1164/rccm.201608-1678LE. No abstract available.

PMID:
28617084
12.

Four case reports of Chinese cystic fibrosis patients and literature review.

Xu J, Yin Y, Zhang L, Zhang J, Yuan S, Zhang H.

Pediatr Pulmonol. 2017 Aug;52(8):1020-1028. doi: 10.1002/ppul.23744. Epub 2017 Jun 13. Review.

PMID:
28608624
13.

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.

Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28.

PMID:
28603918
14.

Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.

Xue X, Mutyam V, Thakerar A, Mobley J, Bridges RJ, Rowe SM, Keeling KM, Bedwell DM.

Hum Mol Genet. 2017 Aug 15;26(16):3116-3129. doi: 10.1093/hmg/ddx196.

PMID:
28575328
15.

A simple, fast and inexpensive method for mutation scanning of CFTR gene.

Figueredo Lago JE, Armas Cayarga A, González González YJ, Collazo Mesa T.

BMC Med Genet. 2017 May 25;18(1):58. doi: 10.1186/s12881-017-0420-9.

16.

[Frequency of the most common mutations of the CFTR gene in peruvian patients with cystic fibrosis using the ARMS-PCR technique].

Aquino R, Protzel A, Rivera J, Abarca H, Dueñas M, Nestarez C, Purizaga N, Diringer B.

Rev Peru Med Exp Salud Publica. 2017 Jan-Mar;34(1):62-69. doi: 10.17843/rpmesp.2017.341.2767. Spanish.

17.

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Bartoszewski R, Króliczewski J, Piotrowski A, Jasiecka AJ, Bartoszewska S, Vecchio-Pagan B, Fu L, Sobolewska A, Matalon S, Cutting GR, Rowe SM, Collawn JF.

Cell Mol Biol Lett. 2016 Oct 19;21:23. doi: 10.1186/s11658-016-0025-x. eCollection 2016. Review.

18.

Alteration of protein function by a silent polymorphism linked to tRNA abundance.

Kirchner S, Cai Z, Rauscher R, Kastelic N, Anding M, Czech A, Kleizen B, Ostedgaard LS, Braakman I, Sheppard DN, Ignatova Z.

PLoS Biol. 2017 May 16;15(5):e2000779. doi: 10.1371/journal.pbio.2000779. eCollection 2017 May.

19.

CFTR-mediated anion secretion across intestinal epithelium-like Caco-2 monolayer under PTH stimulation is dependent on intermediate conductance K+ channels.

Jantarajit W, Lertsuwan K, Teerapornpuntakit J, Krishnamra N, Charoenphandhu N.

Am J Physiol Cell Physiol. 2017 Jul 1;313(1):C118-C129. doi: 10.1152/ajpcell.00010.2017. Epub 2017 May 10.

PMID:
28490422
20.

CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study.

Jiang L, Jin J, Wang S, Zhang F, Dai Y, Shi L, Zhang S.

Gene. 2017 Aug 30;626:282-289. doi: 10.1016/j.gene.2017.04.044. Epub 2017 Apr 27.

PMID:
28456595

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