Literature DB >> 16025767

Cystic fibrosis modifier genes.

Jane Davies1, Eric Alton, Uta Griesenbach.   

Abstract

Since the recognition that CFTR genotype was not a good predictor of pulmonary disease severity in CF, several candidate modifier genes have been identified. It is unlikely that a single modifier gene will be found, but more probable that several haplotypes in combination may contribute, which in itself presents a major methodological challenge. The aims of such studies are to increase our understanding of disease pathogenesis, to aid prognosis and ultimately to lead to the development of novel treatments.

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Year:  2005        PMID: 16025767      PMCID: PMC1308808     

Source DB:  PubMed          Journal:  J R Soc Med        ISSN: 0141-0768            Impact factor:   5.344


  56 in total

1.  Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study.

Authors:  M Gabolde; M Guilloud-Bataille; J Feingold; C Besmond
Journal:  BMJ       Date:  1999-10-30

2.  The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis.

Authors:  M Gabolde; D Hubert; M Guilloud-Bataille; C Lenaerts; J Feingold; C Besmond
Journal:  J Med Genet       Date:  2001-05       Impact factor: 6.318

3.  Age-related association of MHC class I chain-related gene A (MICA) with type 1 (insulin-dependent) diabetes mellitus.

Authors:  Y Kawabata; H Ikegami; Y Kawaguchi; T Fujisawa; M Hotta; H Ueda; M Shintani; K Nojima; M Ono; M Nishino; H Taniguchi; S Noso; K Yamada; N Babaya; T Ogihara
Journal:  Hum Immunol       Date:  2000-06       Impact factor: 2.850

4.  An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.

Authors:  M T Henry; S Cave; J Rendall; C M O'Connor; K Morgan; M X FitzGerald; N Kalsheker
Journal:  Eur J Hum Genet       Date:  2001-04       Impact factor: 4.246

5.  Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis.

Authors:  J Hull; A H Thomson
Journal:  Thorax       Date:  1998-12       Impact factor: 9.139

6.  The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

Authors:  D Altshuler; J N Hirschhorn; M Klannemark; C M Lindgren; M C Vohl; J Nemesh; C R Lane; S F Schaffner; S Bolk; C Brewer; T Tuomi; D Gaudet; T J Hudson; M Daly; L Groop; E S Lander
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

7.  Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene.

Authors:  H Grasemann; N Knauer; R Büscher; K Hübner; J M Drazen; F Ratjen
Journal:  Am J Respir Crit Care Med       Date:  2000-12       Impact factor: 21.405

8.  TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis.

Authors:  P D Arkwright; S Laurie; M Super; V Pravica; M J Schwarz; A K Webb; I V Hutchinson
Journal:  Thorax       Date:  2000-06       Impact factor: 9.139

9.  Lung disease associated with the IVS8 5T allele of the CFTR gene.

Authors:  P G Noone; C A Pue; Z Zhou; K J Friedman; E L Wakeling; M Ganeshananthan; R H Simon; L M Silverman; M R Knowles
Journal:  Am J Respir Crit Care Med       Date:  2000-11       Impact factor: 21.405

10.  Association of alpha(1)-antichymotrypsin deficiency with milder lung disease in patients with cystic fibrosis.

Authors:  R Mahadeva; L Sharples; R I Ross-Russell; A K Webb; D Bilton; D A Lomas
Journal:  Thorax       Date:  2001-01       Impact factor: 9.139

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  7 in total

Review 1.  Cystic fibrosis: terminology and diagnostic algorithms.

Authors:  K De Boeck; M Wilschanski; C Castellani; C Taylor; H Cuppens; J Dodge; M Sinaasappel
Journal:  Thorax       Date:  2005-12-29       Impact factor: 9.139

2.  Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking.

Authors:  Xiaodong Wang; Atanas V Koulov; Wendy A Kellner; John R Riordan; William E Balch
Journal:  Traffic       Date:  2008-07-30       Impact factor: 6.215

3.  Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases.

Authors:  Sophie Collardeau-Frachon; Raymonde Bouvier; Catherine Le Gall; Christine Rivet; Faiza Cabet; Gabriel Bellon; Alain Lachaux; Jean-Yves Scoazec
Journal:  Virchows Arch       Date:  2007-06-07       Impact factor: 4.064

4.  Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients.

Authors:  K Czerska; A Sobczynska-Tomaszewska; D Sands; A Nowakowska; D Bak; K Wertheim; J Poznanski; J Zielenski; A Norek; J Bal
Journal:  J Appl Genet       Date:  2010       Impact factor: 2.653

5.  Kcnn4 is a modifier gene of intestinal cystic fibrosis preventing lethality in the Cftr-F508del mouse.

Authors:  Amber R Philp; Texia T Riquelme; Pamela Millar-Büchner; Rodrigo González; Francisco V Sepúlveda; L Pablo Cid; Carlos A Flores
Journal:  Sci Rep       Date:  2018-06-18       Impact factor: 4.379

6.  Association of cystic fibrosis transmembrane conductance regulator with epithelial sodium channel subunits carrying Liddle's syndrome mutations.

Authors:  Arun K Rooj; Estelle Cormet-Boyaka; Edlira B Clark; Yawar J Qadri; William Lee; Ravindra Boddu; Anupam Agarwal; Richa Tambi; Mohammed Uddin; Vladimir Parpura; Eric J Sorscher; Cathy M Fuller; Bakhrom K Berdiev
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2021-05-26       Impact factor: 6.011

7.  Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients.

Authors:  Giuseppe Fabio Parisi; Silvia Cutello; Giovanna Di Dio; Novella Rotolo; Mario La Rosa; Salvatore Leonardi
Journal:  BMC Res Notes       Date:  2013-11-13
  7 in total

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