Literature DB >> 23027855

A young Hispanic with c.1646G>A mutation exhibits severe cystic fibrosis lung disease: is ivacaftor an option for therapy?

Sunitha Yarlagadda, Weiqiang Zhang, Himabindu Penmatsa, Aixia Ren, Kavisha Arora, Anjaparavanda P Naren, Fatima Anmol I Khan, Catherine A Donnellan, Saumini Srinivasan, Dennis C Stokes, John C Kappes.   

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Year:  2012        PMID： 23027855      PMCID： PMC3480516          DOI： 10.1164/ajrccm.186.7.694

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  11 in total

1.  Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.

Authors:  S H Cheng; R J Gregory; J Marshall; S Paul; D W Souza; G A White; C R O'Riordan; A E Smith
Journal:  Cell       Date:  1990-11-16       Impact factor: 41.582

Review 2.  Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.

Authors:  M J Welsh; A E Smith
Journal:  Cell       Date:  1993-07-02       Impact factor: 41.582

3.  Ivacaftor potentiation of multiple CFTR channels with gating mutations.

Authors:  Haihui Yu; Bill Burton; Chien-Jung Huang; Jennings Worley; Dong Cao; James P Johnson; Art Urrutia; John Joubran; Sheila Seepersaud; Katherine Sussky; Beth J Hoffman; Fredrick Van Goor
Journal:  J Cyst Fibros       Date:  2012-01-30       Impact factor: 5.482

4.  A CFTR potentiator in patients with cystic fibrosis and the G551D mutation.

Authors:  Bonnie W Ramsey; Jane Davies; N Gerard McElvaney; Elizabeth Tullis; Scott C Bell; Pavel Dřevínek; Matthias Griese; Edward F McKone; Claire E Wainwright; Michael W Konstan; Richard Moss; Felix Ratjen; Isabelle Sermet-Gaudelus; Steven M Rowe; Qunming Dong; Sally Rodriguez; Karl Yen; Claudia Ordoñez; J Stuart Elborn
Journal:  N Engl J Med       Date:  2011-11-03       Impact factor: 91.245

5.  Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809.

Authors:  Fredrick Van Goor; Sabine Hadida; Peter D J Grootenhuis; Bill Burton; Jeffrey H Stack; Kimberly S Straley; Caroline J Decker; Mark Miller; Jason McCartney; Eric R Olson; Jeffrey J Wine; Ray A Frizzell; Melissa Ashlock; Paul A Negulescu
Journal:  Proc Natl Acad Sci U S A       Date:  2011-10-05       Impact factor: 11.205

6.  Cystic fibrosis carrier testing in an ethnically diverse US population.

Authors:  Elizabeth M Rohlfs; Zhaoqing Zhou; Ruth A Heim; Narasimhan Nagan; Lynne S Rosenblum; Kerry Flynn; Thomas Scholl; Viatcheslav R Akmaev; D Alexa Sirko-Osadsa; Bernice A Allitto; Elaine A Sugarman
Journal:  Clin Chem       Date:  2011-04-07       Impact factor: 8.327

7.  Clinical and molecular characterization of S1118F-CFTR.

Authors:  Himabindu Penmatsa; Carla A Frederick; Sunitha Nekkalapu; Veronica G Conoley; Weiqiang Zhang; Chunying Li; John Kappes; Dennis C Stokes; Anjaparavanda P Naren
Journal:  Pediatr Pulmonol       Date:  2009-10

8.  Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770.

Authors:  Fredrick Van Goor; Sabine Hadida; Peter D J Grootenhuis; Bill Burton; Dong Cao; Tim Neuberger; Amanda Turnbull; Ashvani Singh; John Joubran; Anna Hazlewood; Jinglan Zhou; Jason McCartney; Vijayalaksmi Arumugam; Caroline Decker; Jennifer Yang; Chris Young; Eric R Olson; Jeffery J Wine; Raymond A Frizzell; Melissa Ashlock; Paul Negulescu
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-21       Impact factor: 11.205

9.  CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

Authors:  Elaine A Sugarman; Elizabeth M Rohlfs; Lawrence M Silverman; Bernice A Allitto
Journal:  Genet Med       Date:  2004 Sep-Oct       Impact factor: 8.822

10.  Spatiotemporal coupling of cAMP transporter to CFTR chloride channel function in the gut epithelia.

Authors:  Chunying Li; Partha C Krishnamurthy; Himabindu Penmatsa; Kevin L Marrs; Xue Qing Wang; Manuela Zaccolo; Kees Jalink; Min Li; Deborah J Nelson; John D Schuetz; Anjaparavanda P Naren
Journal:  Cell       Date:  2007-11-30       Impact factor: 41.582
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  7 in total

1.  PharmGKB summary: very important pharmacogene information for CFTR.

Authors:  Ellen M McDonagh; John P Clancy; Russ B Altman; Teri E Klein
Journal:  Pharmacogenet Genomics       Date:  2015-03       Impact factor: 2.089

2.  Capturing the Direct Binding of CFTR Correctors to CFTR by Using Click Chemistry.

Authors:  Chandrima Sinha; Weiqiang Zhang; Chang Suk Moon; Marcelo Actis; Sunitha Yarlagadda; Kavisha Arora; Koryse Woodroofe; John P Clancy; Songbai Lin; Assem G Ziady; Raymond Frizzell; Naoaki Fujii; Anjaparavanda P Naren
Journal:  Chembiochem       Date:  2015-08-11       Impact factor: 3.164

3.  Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype.

Authors:  J P Clancy; S G Johnson; S W Yee; E M McDonagh; K E Caudle; T E Klein; M Cannavo; K M Giacomini
Journal:  Clin Pharmacol Ther       Date:  2014-03-05       Impact factor: 6.875

Review 4.  Lumacaftor/ivacaftor combination for cystic fibrosis patients homozygous for Phe508del-CFTR.

Authors:  W Zhang; X Zhang; Y H Zhang; D C Strokes; A P Naren
Journal:  Drugs Today (Barc)       Date:  2016-04       Impact factor: 2.245

5.  Normalization of sweat chloride concentration and clinical improvement with ivacaftor in a patient with cystic fibrosis with mutation S549N.

Authors:  Meghan E McGarry; Dennis W Nielson
Journal:  Chest       Date:  2013-10       Impact factor: 9.410

Review 6.  Left behind: The potential impact of CFTR modulators on racial and ethnic disparities in cystic fibrosis.

Authors:  Meghan E McGarry; Elizabeth R Gibb; Gabriela R Oates; Michael S Schechter
Journal:  Paediatr Respir Rev       Date:  2021-12-22       Impact factor: 5.526

7.  c.3623G > A mutation encodes a CFTR protein with impaired channel function.

Authors:  Xiaoying Zhang; Jaspal S Hothi; Yanhui H Zhang; Saumini Srinivasan; Dennis C Stokes; Weiqiang Zhang
Journal:  Respir Res       Date:  2016-01-22
  7 in total

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