Literature DB >> 32265312

Personalised medicine for non-classic cystic fibrosis resulting from rare CFTR mutations.

Matthew S McCravy1, Nancy L Quinney2, Deborah M Cholon2, Susan E Boyles2, Timothy J Jensen2, Andrei A Aleksandrov2,3, Scott H Donaldson1,4, Peadar G Noone1,4,5, Martina Gentzsch6,7,5.   

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Year:  2020        PMID： 32265312      PMCID： PMC7406131          DOI： 10.1183/13993003.00062-2020

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  16 in total

1.  Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations.

Authors:  Kristin G Monaghan; Denise Bluhm; Michelle Phillips; Gerald L Feldman
Journal:  Genet Med       Date:  2004 May-Jun       Impact factor: 8.822

2.  Detection of CFTR function and modulation in primary human nasal cell spheroids.

Authors:  John J Brewington; Erin T Filbrandt; F J LaRosa; Alicia J Ostmann; Lauren M Strecker; Rhonda D Szczesniak; John P Clancy
Journal:  J Cyst Fibros       Date:  2017-07-13       Impact factor: 5.482

3.  Clinical Characteristics and Predictors of Reduced Survival for Adult-diagnosed Cystic Fibrosis. Analysis of the Canadian CF Registry.

Authors:  Sameer Desai; Hubert Wong; Jenna Sykes; Anne L Stephenson; Joel Singer; Bradley S Quon
Journal:  Ann Am Thorac Soc       Date:  2018-10

4.  Effects of Lumacaftor-Ivacaftor Therapy on Cystic Fibrosis Transmembrane Conductance Regulator Function in Phe508del Homozygous Patients with Cystic Fibrosis.

Authors:  Simon Y Graeber; Christian Dopfer; Lutz Naehrlich; Lena Gyulumyan; Heike Scheuermann; Stephanie Hirtz; Sabine Wege; Heimo Mairbäurl; Marie Dorda; Rebecca Hyde; Azadeh Bagheri-Hanson; Claudia Rueckes-Nilges; Sebastian Fischer; Marcus A Mall; Burkhard Tümmler
Journal:  Am J Respir Crit Care Med       Date:  2018-06-01       Impact factor: 21.405

5.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

6.  Efficacy and safety of lumacaftor and ivacaftor in patients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR: a randomised, placebo-controlled phase 3 trial.

Authors:  Felix Ratjen; Christopher Hug; Gautham Marigowda; Simon Tian; Xiaohong Huang; Sanja Stanojevic; Carlos E Milla; Paul D Robinson; David Waltz; Jane C Davies
Journal:  Lancet Respir Med       Date:  2017-06-09       Impact factor: 30.700

7.  Comparison of the clinical manifestations of cystic fibrosis in black and white patients.

Authors:  A Hamosh; S C FitzSimmons; M Macek; M R Knowles; B J Rosenstein; G R Cutting
Journal:  J Pediatr       Date:  1998-02       Impact factor: 4.406

8.  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

9.  Cystic fibrosis carrier frequencies in populations of African origin.

Authors:  C Padoa; A Goldman; T Jenkins; M Ramsay
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

10.  Potentiator ivacaftor abrogates pharmacological correction of ΔF508 CFTR in cystic fibrosis.

Authors:  Deborah M Cholon; Nancy L Quinney; M Leslie Fulcher; Charles R Esther; Jhuma Das; Nikolay V Dokholyan; Scott H Randell; Richard C Boucher; Martina Gentzsch
Journal:  Sci Transl Med       Date:  2014-07-23       Impact factor: 17.956
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  6 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

2.  Culture and Imaging of Human Nasal Epithelial Organoids.

Authors:  Zhongyu Liu; Justin D Anderson; Jennifer Natt; Jennifer S Guimbellot
Journal:  J Vis Exp       Date:  2021-12-17       Impact factor: 1.424

Review 3.  Established and novel human translational models to advance cystic fibrosis research, drug discovery, and optimize CFTR-targeting therapeutics.

Authors:  Deborah M Cholon; Martina Gentzsch
Journal:  Curr Opin Pharmacol       Date:  2022-04-21       Impact factor: 4.768

4.  CFTR function and clinical response to modulators parallel nasal epithelial organoid swelling.

Authors:  Justin D Anderson; Zhongyu Liu; L Victoria Odom; Latona Kersh; Jennifer S Guimbellot
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2021-05-19       Impact factor: 6.011

Review 5.  CFTR Modulators: Does One Dose Fit All?

Authors:  Renske van der Meer; Erik B Wilms; Harry G M Heijerman
Journal:  J Pers Med       Date:  2021-05-24

Review 6.  Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Authors:  Madalena C Pinto; Iris A L Silva; Miquéias Lopes-Pacheco; Miriam F Figueira; Margarida D Amaral
Journal:  J Exp Pharmacol       Date:  2021-07-23
  6 in total

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