Literature DB >> 31992636

Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?

David Fisman1.   

Abstract

Entities:  

Year:  2020        PMID： 31992636      PMCID： PMC7022141          DOI： 10.1073/pnas.1921730117

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  8 in total

1.  Do delta F508 heterozygotes have a selective advantage?

Authors:  C Wiuf
Journal:  Genet Res       Date:  2001-08       Impact factor: 1.588

2.  Future trends in cystic fibrosis demography in 34 European countries.

Authors:  Pierre-Régis Burgel; Gil Bellis; Hanne V Olesen; Laura Viviani; Anna Zolin; Francesco Blasi; J Stuart Elborn
Journal:  Eur Respir J       Date:  2015-03-18       Impact factor: 16.671

3.  Sickle hemoglobin confers tolerance to Plasmodium infection.

Authors:  Ana Ferreira; Ivo Marguti; Ingo Bechmann; Viktória Jeney; Angelo Chora; Nuno R Palha; Sofia Rebelo; Annie Henri; Yves Beuzard; Miguel P Soares
Journal:  Cell       Date:  2011-04-29       Impact factor: 41.582

4.  Thalassemia minor: routine erythrocyte measurements and differentiation from iron deficiency.

Authors:  C S Johnson; C Tegos; E Beutler
Journal:  Am J Clin Pathol       Date:  1983-07       Impact factor: 2.493

5.  The changing epidemiology of cystic fibrosis.

Authors:  S C FitzSimmons
Journal:  J Pediatr       Date:  1993-01       Impact factor: 4.406

Review 6.  Cystic fibrosis.

Authors:  J Stuart Elborn
Journal:  Lancet       Date:  2016-04-29       Impact factor: 79.321

7.  Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.

Authors:  Charles M Strom; Beryl Crossley; Arlene Buller-Buerkle; Michael Jarvis; Franklin Quan; Mei Peng; Kasinathan Muralidharan; Victoria Pratt; Joy B Redman; Weimin Sun
Journal:  Genet Med       Date:  2011-02       Impact factor: 8.822

8.  Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions.

Authors:  Aaron C Miller; Alejandro P Comellas; Douglas B Hornick; David A Stoltz; Joseph E Cavanaugh; Alicia K Gerke; Michael J Welsh; Joseph Zabner; Philip M Polgreen
Journal:  Proc Natl Acad Sci U S A       Date:  2019-12-27       Impact factor: 11.205
  8 in total
  2 in total

Review 1.  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

2.  CFTR-mediated monocyte/macrophage dysfunction revealed by cystic fibrosis proband-parent comparisons.

Authors:  Xi Zhang; Camille M Moore; Laura D Harmacek; Joanne Domenico; Vittobai Rashika Rangaraj; Justin E Ideozu; Jennifer R Knapp; Katherine J Woods; Stephanie Jump; Shuang Jia; Jeremy W Prokop; Russell Bowler; Martin J Hessner; Erwin W Gelfand; Hara Levy
Journal:  JCI Insight       Date:  2022-03-22
  2 in total

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