Literature DB >> 26073768

Precision Genomic Medicine in Cystic Fibrosis.

Eugene H Chang1, Joseph Zabner2.   

Abstract

The successful application of precision genomic medicine requires an understanding of how a person's genome can influence his or her disease phenotype and how medical therapies can provide personalized therapy to one's genotype. In this review, we highlight advances in precision genomic medicine in cystic fibrosis (CF), a classic autosomal recessive genetic disorder. We discuss genotype-phenotype correlations in CF, genetic and environmental modifiers of disease, and pharmacogenetic therapies that target specific genetic mutations thereby addressing the primary defect of cystic fibrosis.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  epithelium; genes; genetics

Mesh:

Substances:

Year:  2015        PMID: 26073768      PMCID: PMC4626267          DOI: 10.1111/cts.12292

Source DB:  PubMed          Journal:  Clin Transl Sci        ISSN: 1752-8054            Impact factor:   4.689


  51 in total

1.  Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.

Authors:  X Wang; B Moylan; D A Leopold; J Kim; R C Rubenstein; A Togias; D Proud; P L Zeitlin; G R Cutting
Journal:  JAMA       Date:  2000-10-11       Impact factor: 56.272

Review 2.  Genotype and phenotype in cystic fibrosis.

Authors:  J Zielenski
Journal:  Respiration       Date:  2000       Impact factor: 3.580

3.  Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.

Authors:  Jonathan A Cohn; John P Neoptolemos; Jinong Feng; Jin Yan; Zefei Jiang; William Greenhalf; Christopher McFaul; Roger Mountford; Steve S Sommer
Journal:  Hum Mutat       Date:  2005-10       Impact factor: 4.878

4.  Recommendations for the classification of diseases as CFTR-related disorders.

Authors:  C Bombieri; M Claustres; K De Boeck; N Derichs; J Dodge; E Girodon; I Sermet; M Schwarz; M Tzetis; M Wilschanski; C Bareil; D Bilton; C Castellani; H Cuppens; G R Cutting; P Drevínek; P Farrell; J S Elborn; K Jarvi; B Kerem; E Kerem; M Knowles; M Macek; A Munck; D Radojkovic; M Seia; D N Sheppard; K W Southern; M Stuhrmann; E Tullis; J Zielenski; P F Pignatti; C Ferec
Journal:  J Cyst Fibros       Date:  2011-06       Impact factor: 5.482

5.  Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.

Authors:  J P Clancy; Steven M Rowe; Frank J Accurso; Moira L Aitken; Raouf S Amin; Melissa A Ashlock; Manfred Ballmann; Michael P Boyle; Inez Bronsveld; Preston W Campbell; Kris De Boeck; Scott H Donaldson; Henry L Dorkin; Jordan M Dunitz; Peter R Durie; Manu Jain; Anissa Leonard; Karen S McCoy; Richard B Moss; Joseph M Pilewski; Daniel B Rosenbluth; Ronald C Rubenstein; Michael S Schechter; Martyn Botfield; Claudia L Ordoñez; George T Spencer-Green; Laurent Vernillet; Steve Wisseh; Karl Yen; Michael W Konstan
Journal:  Thorax       Date:  2011-08-08       Impact factor: 9.139

6.  The delta F508 mutation in cystic fibrosis and impact on sinus development.

Authors:  Bradford A Woodworth; Chadwick Ahn; Patrick A Flume; Rodney J Schlosser
Journal:  Am J Rhinol       Date:  2007 Jan-Feb

7.  Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

Authors:  Philip M Farrell; Beryl J Rosenstein; Terry B White; Frank J Accurso; Carlo Castellani; Garry R Cutting; Peter R Durie; Vicky A Legrys; John Massie; Richard B Parad; Michael J Rock; Preston W Campbell
Journal:  J Pediatr       Date:  2008-08       Impact factor: 4.406

8.  Defining DIOS and constipation in cystic fibrosis with a multicentre study on the incidence, characteristics, and treatment of DIOS.

Authors:  Roderick H Houwen; Hubert P van der Doef; Isabelle Sermet; Anne Munck; Bruno Hauser; Jaroslaw Walkowiak; Eddy Robberecht; Carla Colombo; Maarten Sinaasappel; Michael Wilschanski
Journal:  J Pediatr Gastroenterol Nutr       Date:  2010-01       Impact factor: 2.839

9.  Sinus hypoplasia precedes sinus infection in a porcine model of cystic fibrosis.

Authors:  Eugene H Chang; Alejandro A Pezzulo; David K Meyerholz; Andrea E Potash; Tanner J Wallen; Leah R Reznikov; Jessica C Sieren; Philip H Karp; Sarah Ernst; Thomas O Moninger; Nicholas D Gansemer; Paul B McCray; David A Stoltz; Michael J Welsh; Joseph Zabner
Journal:  Laryngoscope       Date:  2012-06-18       Impact factor: 3.325

10.  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

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  11 in total

Review 1.  Cystic Fibrosis and the Nervous System.

Authors:  Leah R Reznikov
Journal:  Chest       Date:  2016-11-19       Impact factor: 9.410

Review 2.  Clinical Phenotypes of Cystic Fibrosis Carriers.

Authors:  Philip M Polgreen; Alejandro P Comellas
Journal:  Annu Rev Med       Date:  2022-01-27       Impact factor: 13.739

3.  Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in Pakistan.

Authors:  Danish Abdul Aziz; Abdul Gaffar Billoo; Ahad Qureshi; Misha Khalid; Salman Kirmani
Journal:  Pak J Med Sci       Date:  2017 May-Jun       Impact factor: 1.088

Review 4.  Cardiovascular Precision Medicine in the Genomics Era.

Authors:  Alexandra M Dainis; Euan A Ashley
Journal:  JACC Basic Transl Sci       Date:  2018-05-30

5.  Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine.

Authors:  Shailendra Dwivedi; Purvi Purohit; Radhieka Misra; Puneet Pareek; Apul Goel; Sanjay Khattri; Kamlesh Kumar Pant; Sanjeev Misra; Praveen Sharma
Journal:  Indian J Clin Biochem       Date:  2017-08-22

6.  Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene.

Authors:  Silvia Pierandrei; Giovanna Blaconà; Benedetta Fabrizzi; Giuseppe Cimino; Natalia Cirilli; Nicole Caporelli; Antonio Angeloni; Marco Cipolli; Marco Lucarelli
Journal:  PLoS One       Date:  2019-10-08       Impact factor: 3.240

Review 7.  Paving the Way toward Personalized Medicine: Current Advances and Challenges in Multi-OMICS Approach in Autism Spectrum Disorder for Biomarkers Discovery and Patient Stratification.

Authors:  Areej G Mesleh; Sara A Abdulla; Omar El-Agnaf
Journal:  J Pers Med       Date:  2021-01-13

Review 8.  Personalized or Precision Medicine? The Example of Cystic Fibrosis.

Authors:  Fernando A L Marson; Carmen S Bertuzzo; José D Ribeiro
Journal:  Front Pharmacol       Date:  2017-06-20       Impact factor: 5.810

9.  Physician-Reported Benefits and Barriers to Clinical Implementation of Genomic Medicine: A Multi-Site IGNITE-Network Survey.

Authors:  Aniwaa Owusu Obeng; Kezhen Fei; Kenneth D Levy; Amanda R Elsey; Toni I Pollin; Andrea H Ramirez; Kristin W Weitzel; Carol R Horowitz
Journal:  J Pers Med       Date:  2018-07-24

10.  Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Authors:  Agnieszka Ługowska; Joanna K Purzycka-Olewiecka; Rafał Płoski; Grażyna Truszkowska; Maciej Pronicki; Paulina Felczak; Mateusz Śpiewak; Aleksandra Podlecka-Piętowska; Martyna Sitek; Zofia T Bilińska; Przemysław Leszek; Małgorzata Bednarska-Makaruk
Journal:  Life (Basel)       Date:  2021-12-21
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