Literature DB >> 24786148

The G551D CFTR chloride channel spurs the development of personalized medicine.

Horst Fischer1.   

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Year:  2014        PMID: 24786148      PMCID: PMC4230764          DOI: 10.1113/jphysiol.2014.274464

Source DB:  PubMed          Journal:  J Physiol        ISSN: 0022-3751            Impact factor:   5.182


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  4 in total

1.  Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

Authors:  Mónica Roxo-Rosa; Zhe Xu; André Schmidt; Mário Neto; Zhiwei Cai; Cláudio M Soares; David N Sheppard; Margarida D Amaral
Journal:  Proc Natl Acad Sci U S A       Date:  2006-11-10       Impact factor: 11.205

2.  Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein.

Authors:  B Illek; L Zhang; N C Lewis; R B Moss; J Y Dong; H Fischer
Journal:  Am J Physiol       Date:  1999-10

3.  Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D-CFTR.

Authors:  Zhe Xu; Luísa S Pissarra; Carlos M Farinha; Jia Liu; Zhiwei Cai; Patrick H Thibodeau; Margarida D Amaral; David N Sheppard
Journal:  J Physiol       Date:  2014-03-03       Impact factor: 5.182

4.  Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.

Authors:  Frank J Accurso; Steven M Rowe; J P Clancy; Michael P Boyle; Jordan M Dunitz; Peter R Durie; Scott D Sagel; Douglas B Hornick; Michael W Konstan; Scott H Donaldson; Richard B Moss; Joseph M Pilewski; Ronald C Rubenstein; Ahmet Z Uluer; Moira L Aitken; Steven D Freedman; Lynn M Rose; Nicole Mayer-Hamblett; Qunming Dong; Jiuhong Zha; Anne J Stone; Eric R Olson; Claudia L Ordoñez; Preston W Campbell; Melissa A Ashlock; Bonnie W Ramsey
Journal:  N Engl J Med       Date:  2010-11-18       Impact factor: 176.079

  4 in total
  2 in total

1.  Sustained Glycemic Control With Ivacaftor in Cystic Fibrosis-Related Diabetes.

Authors:  Francis Christian; Andrew Thierman; Erin Shirley; Karen Allen; Cory Cross; Kellie Jones
Journal:  J Investig Med High Impact Case Rep       Date:  2019 Jan-Dec

2.  Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease.

Authors:  Jiafen Gong; Gengming He; Cheng Wang; Claire Bartlett; Naim Panjwani; Scott Mastromatteo; Fan Lin; Katherine Keenan; Julie Avolio; Anat Halevy; Michelle Shaw; Mohsen Esmaeili; Guillaume Côté-Maurais; Damien Adam; Stéphanie Bégin; Candice Bjornson; Mark Chilvers; Joe Reisman; April Price; Michael Parkins; Richard van Wylick; Yves Berthiaume; Lara Bilodeau; Dimas Mateos-Corral; Daniel Hughes; Mary J Smith; Nancy Morrison; Janna Brusky; Elizabeth Tullis; Anne L Stephenson; Bradley S Quon; Pearce Wilcox; Winnie M Leung; Melinda Solomon; Lei Sun; Emmanuelle Brochiero; Theo J Moraes; Tanja Gonska; Felix Ratjen; Johanna M Rommens; Lisa J Strug
Journal:  NPJ Genom Med       Date:  2022-04-08       Impact factor: 8.617

  2 in total

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