Literature DB >> 8863168

Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.

R B Parad1.   

Abstract

In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mutation G551D has been described as "severe," causing pancreatic insufficiency. Two cystic fibrosis (CF) patients homozygous for this mutation showed a mild rather than severe pancreatic phenotype and a variable pulmonary phenotype.

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8863168      PMCID： PMC1050710          DOI： 10.1136/jmg.33.8.711

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.

Authors:  T V Strong; L S Smit; S V Turpin; J L Cole; C T Hon; D Markiewicz; T L Petty; M W Craig; E C Rosenow; L C Tsui
Journal:  N Engl J Med       Date:  1991-12-05       Impact factor: 91.245

Review 2.  Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.

Authors:  M J Welsh; A E Smith
Journal:  Cell       Date:  1993-07-02       Impact factor: 41.582

3.  Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs.

Authors:  B Richards; J Skoletsky; A P Shuber; R Balfour; R C Stern; H L Dorkin; R B Parad; D Witt; K W Klinger
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

4.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962

5.  A mutation in CFTR produces different phenotypes depending on chromosomal background.

Authors:  S Kiesewetter; M Macek; C Davis; S M Curristin; C S Chu; C Graham; A E Shrimpton; S M Cashman; L C Tsui; J Mickle
Journal:  Nat Genet       Date:  1993-11       Impact factor: 38.330

6.  Genetic determination of exocrine pancreatic function in cystic fibrosis.

Authors:  P Kristidis; D Bozon; M Corey; D Markiewicz; J Rommens; L C Tsui; P Durie
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

7.  Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.

Authors:  R M Ferrie; M J Schwarz; N H Robertson; S Vaudin; M Super; G Malone; S Little
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

8.  Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

Authors:  A Hamosh; T M King; B J Rosenstein; M Corey; H Levison; P Durie; L C Tsui; I McIntosh; M Keston; D J Brock
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

9.  Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.

Authors:  J Logan; D Hiestand; P Daram; Z Huang; D D Muccio; J Hartman; B Haley; W J Cook; E J Sorscher
Journal:  J Clin Invest       Date:  1994-07       Impact factor: 14.808

10.  A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

Authors:  W E Highsmith; L H Burch; Z Zhou; J C Olsen; T E Boat; A Spock; J D Gorvoy; L Quittel; K J Friedman; L M Silverman
Journal:  N Engl J Med       Date:  1994-10-13       Impact factor: 91.245
View more
  4 in total

1.  Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aeruginosa from the lung.

Authors:  G B Pier; M Grout; T S Zaidi
Journal:  Proc Natl Acad Sci U S A       Date:  1997-10-28       Impact factor: 11.205

2.  Mechanosensitivity of wild-type and G551D cystic fibrosis transmembrane conductance regulator (CFTR) controls regulatory volume decrease in simple epithelia.

Authors:  Changyan Xie; Xu Cao; Xibing Chen; Dong Wang; Wei Kevin Zhang; Ying Sun; Wenbao Hu; Zijing Zhou; Yan Wang; Pingbo Huang
Journal:  FASEB J       Date:  2015-12-18       Impact factor: 5.191

3.  Exogenous Alginate Protects Staphylococcus aureus from Killing by Pseudomonas aeruginosa.

Authors:  Courtney E Price; Dustin G Brown; Dominique H Limoli; Vanessa V Phelan; George A O'Toole
Journal:  J Bacteriol       Date:  2020-03-26       Impact factor: 3.490

4.  Abdominal symptoms in cystic fibrosis and their relation to genotype, history, clinical and laboratory findings.

Authors:  Harold Tabori; Christin Arnold; Anke Jaudszus; Hans-Joachim Mentzel; Diane M Renz; Steffen Reinsch; Michael Lorenz; Ruth Michl; Andrea Gerber; Thomas Lehmann; Jochen G Mainz
Journal:  PLoS One       Date:  2017-05-04       Impact factor: 3.240
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.