Literature DB >> 27377414

Classification of CFTR mutation classes.

Fernando Augusto Lima Marson1, Carmen Sílvia Bertuzzo2, José Dirceu Ribeiro3.   

Abstract

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Year:  2016        PMID： 27377414     DOI： 10.1016/S2213-2600(16)30188-6

Source DB:  PubMed          Journal:  Lancet Respir Med        ISSN： 2213-2600            Impact factor:   30.700


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  35 in total

Review 1.  Germline genetic variants with implications for disease risk and therapeutic outcomes.

Authors:  Amy L Pasternak; Kristen M Ward; Jasmine A Luzum; Vicki L Ellingrod; Daniel L Hertz
Journal:  Physiol Genomics       Date:  2017-09-08       Impact factor: 3.107

2.  A Proteomic Variant Approach (ProVarA) for Personalized Medicine of Inherited and Somatic Disease.

Authors:  Darren M Hutt; Salvatore Loguercio; Alexandre Rosa Campos; William E Balch
Journal:  J Mol Biol       Date:  2018-06-18       Impact factor: 5.469

3.  Distinctive metabolic profiles between Cystic Fibrosis mutational subclasses and lung function.

Authors:  Afshan Masood; Minnie Jacob; Xinyun Gu; Mai Abdel Jabar; Hicham Benabdelkamel; Imran Nizami; Liang Li; Majed Dasouki; Anas M Abdel Rahman
Journal:  Metabolomics       Date:  2021-01-04       Impact factor: 4.290

Review 4.  Effects of Pseudomonas aeruginosa on CFTR chloride secretion and the host immune response.

Authors:  Bruce A Stanton
Journal:  Am J Physiol Cell Physiol       Date:  2017-01-25       Impact factor: 4.249

Review 5.  The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.

Authors:  Isabelle R McKay; Chee Y Ooi
Journal:  Front Pediatr       Date:  2022-06-27       Impact factor: 3.569

Review 6.  Pharmacological approaches for targeting cystic fibrosis nonsense mutations.

Authors:  Jyoti Sharma; Kim M Keeling; Steven M Rowe
Journal:  Eur J Med Chem       Date:  2020-05-21       Impact factor: 6.514

7.  Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

Authors:  Andrew M Zeiger; Meghan E McGarry; Angel C Y Mak; Vivian Medina; Sandra Salazar; Celeste Eng; Amy K Liu; Sam S Oh; Thomas J Nuckton; Deepti Jain; Thomas W Blackwell; Hyun Min Kang; Goncalo Abecasis; Leandra Cordero Oñate; Max A Seibold; Esteban G Burchard; Jose Rodriguez-Santana
Journal:  Pediatr Pulmonol       Date:  2019-10-30

Review 8.  The future of cystic fibrosis care: a global perspective.

Authors:  Scott C Bell; Marcus A Mall; Hector Gutierrez; Milan Macek; Susan Madge; Jane C Davies; Pierre-Régis Burgel; Elizabeth Tullis; Claudio Castaños; Carlo Castellani; Catherine A Byrnes; Fiona Cathcart; Sanjay H Chotirmall; Rebecca Cosgriff; Irmgard Eichler; Isabelle Fajac; Christopher H Goss; Pavel Drevinek; Philip M Farrell; Anna M Gravelle; Trudy Havermans; Nicole Mayer-Hamblett; Nataliya Kashirskaya; Eitan Kerem; Joseph L Mathew; Edward F McKone; Lutz Naehrlich; Samya Z Nasr; Gabriela R Oates; Ciaran O'Neill; Ulrike Pypops; Karen S Raraigh; Steven M Rowe; Kevin W Southern; Sheila Sivam; Anne L Stephenson; Marco Zampoli; Felix Ratjen
Journal:  Lancet Respir Med       Date:  2019-09-27       Impact factor: 30.700

9.  Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.

Authors:  Hongbo Cheng; Shenmin Yang; Qingxia Meng; Bo Zheng; Yidong Gu; Luyun Wang; Tao Song; Chunlu Xu; Gaigai Wang; Mutian Han; Liyan Shen; Jie Ding; Hong Li; Jun Ouyang
Journal:  J Assist Reprod Genet       Date:  2022-02-04       Impact factor: 3.412

10.  Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.

Authors:  Morgan Sanders; James M J Lawlor; Xiaopeng Li; John N Schuen; Susan L Millard; Xi Zhang; Leah Buck; Bethany Grysko; Katie L Uhl; David Hinds; Cynthia L Stenger; Michele Morris; Neil Lamb; Hara Levy; Caleb Bupp; Jeremy W Prokop
Journal:  Hum Genet       Date:  2020-07-30       Impact factor: 4.132
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