Literature DB >> 31320522

Making precision medicine personal for cystic fibrosis.

Candela Manfredi1, Janice M Tindall2, Jeong S Hong1, Eric J Sorscher3.   

Abstract

Entities:  

Year:  2019        PMID： 31320522      PMCID： PMC7060931          DOI： 10.1126/science.aaw0553

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  10 in total

1.  Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis.

Authors:  Steven M Rowe; Cori Daines; Felix C Ringshausen; Eitan Kerem; John Wilson; Elizabeth Tullis; Nitin Nair; Christopher Simard; Linda Han; Edward P Ingenito; Charlotte McKee; Julie Lekstrom-Himes; Jane C Davies
Journal:  N Engl J Med       Date:  2017-11-03       Impact factor: 91.245

2.  Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis.

Authors:  Gitte Berkers; Peter van Mourik; Annelotte M Vonk; Evelien Kruisselbrink; Johanna F Dekkers; Karin M de Winter-de Groot; Hubertus G M Arets; Rozemarijn E P Marck-van der Wilt; Jasper S Dijkema; Maaike M Vanderschuren; Roderick H J Houwen; Harry G M Heijerman; Eduard A van de Graaf; Sjoerd G Elias; Christof J Majoor; Gerard H Koppelman; Jolt Roukema; Marleen Bakker; Hettie M Janssens; Renske van der Meer; Robert G J Vries; Hans C Clevers; Hugo R de Jonge; Jeffrey M Beekman; Cornelis K van der Ent
Journal:  Cell Rep       Date:  2019-02-12       Impact factor: 9.423

3.  C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.

Authors:  M Haardt; M Benharouga; D Lechardeur; N Kartner; G L Lukacs
Journal:  J Biol Chem       Date:  1999-07-30       Impact factor: 5.157

4.  Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

Authors:  Claire E Wainwright; J Stuart Elborn; Bonnie W Ramsey; Gautham Marigowda; Xiaohong Huang; Marco Cipolli; Carla Colombo; Jane C Davies; Kris De Boeck; Patrick A Flume; Michael W Konstan; Susanna A McColley; Karen McCoy; Edward F McKone; Anne Munck; Felix Ratjen; Steven M Rowe; David Waltz; Michael P Boyle
Journal:  N Engl J Med       Date:  2015-05-17       Impact factor: 91.245

5.  VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.

Authors:  Dominic Keating; Gautham Marigowda; Lucy Burr; Cori Daines; Marcus A Mall; Edward F McKone; Bonnie W Ramsey; Steven M Rowe; Laura A Sass; Elizabeth Tullis; Charlotte M McKee; Samuel M Moskowitz; Sarah Robertson; Jessica Savage; Christopher Simard; Fredrick Van Goor; David Waltz; Fengjuan Xuan; Tim Young; Jennifer L Taylor-Cousar
Journal:  N Engl J Med       Date:  2018-10-18       Impact factor: 91.245

6.  The U.S. Food and Drug Administration's Experience with Ivacaftor in Cystic Fibrosis. Establishing Efficacy Using In Vitro Data in Lieu of a Clinical Trial.

Authors:  Anthony G Durmowicz; Robert Lim; Hobart Rogers; Curtis J Rosebraugh; Badrul A Chowdhury
Journal:  Ann Am Thorac Soc       Date:  2018-01

Review 7.  Considerations for Developing Targeted Therapies in Low-Frequency Molecular Subsets of a Disease.

Authors:  Robert N Schuck; Janet Woodcock; Issam Zineh; Peter Stein; Jonathan Jarow; Robert Temple; Thomas Permutt; Lisa LaVange; Julia A Beaver; Rosane Charlab; Gideon M Blumenthal; Sarah E Dorff; Christopher Leptak; Steven Lemery; Hobart Rogers; Badrul Chowdhury; E David Litwack; Michael Pacanowski
Journal:  Clin Pharmacol Ther       Date:  2018-02-23       Impact factor: 6.875

8.  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

9.  Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

Authors:  Alexandre Hinzpeter; Abdel Aissat; Elvira Sondo; Catherine Costa; Nicole Arous; Christine Gameiro; Natacha Martin; Agathe Tarze; Laurence Weiss; Alix de Becdelièvre; Bruno Costes; Michel Goossens; Luis J Galietta; Emmanuelle Girodon; Pascale Fanen
Journal:  PLoS Genet       Date:  2010-10-07       Impact factor: 5.917

10.  From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Authors:  Gudio Veit; Radu G Avramescu; Annette N Chiang; Scott A Houck; Zhiwei Cai; Kathryn W Peters; Jeong S Hong; Harvey B Pollard; William B Guggino; William E Balch; William R Skach; Garry R Cutting; Raymond A Frizzell; David N Sheppard; Douglas M Cyr; Eric J Sorscher; Jeffrey L Brodsky; Gergely L Lukacs
Journal:  Mol Biol Cell       Date:  2016-02-01       Impact factor: 4.138
  10 in total
  7 in total

1.  Triangulating variation in the population to define mechanisms for precision management of genetic disease.

Authors:  Chao Wang; Frédéric Anglès; William E Balch
Journal:  Structure       Date:  2022-06-16       Impact factor: 5.871

Review 2.  Anti-atherosclerotic therapies: Milestones, challenges, and emerging innovations.

Authors:  Isabella Hetherington; Hana Totary-Jain
Journal:  Mol Ther       Date:  2022-09-05       Impact factor: 12.910

3.  Distinct proteostasis states drive pharmacologic chaperone susceptibility for cystic fibrosis transmembrane conductance regulator misfolding mutants.

Authors:  Eli Fritz McDonald; Carleen Mae P Sabusap; Minsoo Kim; Lars Plate
Journal:  Mol Biol Cell       Date:  2022-04-07       Impact factor: 3.612

4.  The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue.

Authors:  Carleen Mae Sabusap; Disha Joshi; Luba Simhaev; Kathryn E Oliver; Hanoch Senderowitz; Marcel van Willigen; Ineke Braakman; Andras Rab; Eric J Sorscher; Jeong S Hong
Journal:  J Biol Chem       Date:  2021-03-26       Impact factor: 5.486

5.  Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.

Authors:  Robert Rauscher; Giovana B Bampi; Marta Guevara-Ferrer; Leonardo A Santos; Disha Joshi; David Mark; Lisa J Strug; Johanna M Rommens; Manfred Ballmann; Eric J Sorscher; Kathryn E Oliver; Zoya Ignatova
Journal:  Proc Natl Acad Sci U S A       Date:  2021-01-26       Impact factor: 12.779

6.  Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors.

Authors:  Sateesh Krishnamurthy; Soumba Traore; Ashley L Cooney; Christian M Brommel; Katarina Kulhankova; Patrick L Sinn; Gregory A Newby; David R Liu; Paul B McCray
Journal:  Nucleic Acids Res       Date:  2021-10-11       Impact factor: 19.160

Review 7.  Immunomodulation in Cystic Fibrosis: Why and How?

Authors:  Vincent D Giacalone; Brian S Dobosh; Amit Gaggar; Rabindra Tirouvanziam; Camilla Margaroli
Journal:  Int J Mol Sci       Date:  2020-05-08       Impact factor: 5.923
  7 in total

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