Literature DB >> 1977977

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis.

G Santis1, L Osborne, R A Knight, M E Hodson.   

Abstract

The concordance of pancreatic and pulmonary status among siblings with cystic fibrosis, the cystic fibrosis genotype, and non-genetic factors were analysed in adult patients with cystic fibrosis. Genetic factors were more important than non-genetic factors in affecting the severity of pancreatic and lung disease. The genetic factors were independent of each other and did not invariably cosegregate with specific mutations at the cystic fibrosis locus.

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Year:  1990        PMID： 1977977     DOI： 10.1016/0140-6736(90)92566-z

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  37 in total

1.  Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

Authors:  L Osborne; G Santis; M Schwarz; K Klinger; T Dörk; I McIntosh; M Schwartz; V Nunes; M Macek; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Mutations of the cystic fibrosis gene locus within the population of the Northwest of England.

Authors:  M Super; M J Schwarz
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

Review 3.  Cystic fibrosis modifier genes.

Authors:  Jane Davies; Eric Alton; Uta Griesenbach
Journal:  J R Soc Med       Date:  2005       Impact factor: 5.344

4.  TNF-alpha promoter polymorphism in relation to TNF-alpha production and clinical status in cystic fibrosis.

Authors:  Sabina Schmitt-Grohé; Frank Stüber; Malte Book; Joachim Bargon; Thomas O Wagner; Christian Naujoks; Ralf Schubert; Michael J Lentze; Stefan Zielen
Journal:  Lung       Date:  2006 Mar-Apr       Impact factor: 2.584

Review 5.  Medical genetics.

Authors:  M Super
Journal:  Postgrad Med J       Date:  1991-07       Impact factor: 2.401

6.  Pulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype.

Authors:  R B Parad; C J Gerard; D Zurakowski; D P Nichols; G B Pier
Journal:  Infect Immun       Date:  1999-09       Impact factor: 3.441

7.  Quantitative and qualitative differences in bronchoalveolar inflammatory cells in Pseudomonas aeruginosa-resistant and -susceptible mice.

Authors:  K Sapru; P K Stotland; M M Stevenson
Journal:  Clin Exp Immunol       Date:  1999-01       Impact factor: 4.330

8.  Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype.

Authors:  J Yarden; D Radojkovic; K De Boeck; M Macek; D Zemkova; V Vavrova; R Vlietinck; J-J Cassiman; H Cuppens
Journal:  Thorax       Date:  2005-04       Impact factor: 9.139

Review 9.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

10.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Authors:  P Gasparini; G Borgo; G Mastella; A Bonizzato; M Dognini; P F Pignatti
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318
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