Literature DB >> 9194805

Genotype and phenotype in cystic fibrosis.

L C Tsui1, P Durie.   

Abstract

Questions about the function of the disease-related gene are still not fully answered, but correlations are emerging between specific mutations and a patient's clinical condition. The strongest link is for pancreatic failure. A second involves azoospermia. Indeed, mutations are being found in males with infertility as the sole sign of disease. Improved knowledge of such patterns may suggest novel approaches to severe cystic fibrosis.

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Year:  1997        PMID: 9194805     DOI: 10.1080/21548331.1997.11443512

Source DB:  PubMed          Journal:  Hosp Pract (1995)        ISSN: 2154-8331


  12 in total

Review 1.  Hereditary pancreatitis: new insights into acute and chronic pancreatitis.

Authors:  D C Whitcomb
Journal:  Gut       Date:  1999-09       Impact factor: 23.059

2.  Genotype-phenotype correlation for pulmonary function in cystic fibrosis.

Authors:  J de Gracia; F Mata; A Alvarez; T Casals; S Gatner; M Vendrell; D de la Rosa; L Guarner; E Hermosilla
Journal:  Thorax       Date:  2005-07       Impact factor: 9.139

Review 3.  Cystic fibrosis lung disease: genetic influences, microbial interactions, and radiological assessment.

Authors:  Samuel M Moskowitz; Ronald L Gibson; Eric L Effmann
Journal:  Pediatr Radiol       Date:  2005-05-03

4.  Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes.

Authors:  M Mall; A Wissner; H H Seydewitz; M Hübner; J Kuehr; M Brandis; R Greger; K Kunzelmann
Journal:  Br J Pharmacol       Date:  2000-08       Impact factor: 8.739

5.  Characterization of a 7,8-benzoflavone double effect on CFTR Cl(-) channel activity.

Authors:  Loretta Ferrera; Chiara Pincin; Oscar Moran
Journal:  J Membr Biol       Date:  2007-09-18       Impact factor: 1.843

6.  Stable dimeric assembly of the second membrane-spanning domain of CFTR (cystic fibrosis transmembrane conductance regulator) reconstitutes a chloride-selective pore.

Authors:  Mohabir Ramjeesingh; Francisca Ugwu; Canhui Li; Sonja Dhani; Ling Jun Huan; Yanchun Wang; Christine E Bear
Journal:  Biochem J       Date:  2003-11-01       Impact factor: 3.857

7.  Dimeric cystic fibrosis transmembrane conductance regulator exists in the plasma membrane.

Authors:  Mohabir Ramjeesingh; Jackie F Kidd; Ling Jun Huan; Yanchun Wang; Christine E Bear
Journal:  Biochem J       Date:  2003-09-15       Impact factor: 3.857

8.  Three-dimensional reconstruction of human cystic fibrosis transmembrane conductance regulator chloride channel revealed an ellipsoidal structure with orifices beneath the putative transmembrane domain.

Authors:  Kazuhiro Mio; Toshihiko Ogura; Muneyo Mio; Hiroyasu Shimizu; Tzyh-Chang Hwang; Chikara Sato; Yoshiro Sohma
Journal:  J Biol Chem       Date:  2008-08-22       Impact factor: 5.157

9.  No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations.

Authors:  John P Clancy; Steven M Rowe; Zsuzsa Bebok; Moira L Aitken; Ron Gibson; Pam Zeitlin; Pierre Berclaz; Rick Moss; Michael R Knowles; Robert A Oster; Nicole Mayer-Hamblett; Bonnie Ramsey
Journal:  Am J Respir Cell Mol Biol       Date:  2007-03-08       Impact factor: 6.914

10.  Genetic influences on cystic fibrosis lung disease severity.

Authors:  Colleen A Weiler; Mitchell L Drumm
Journal:  Front Pharmacol       Date:  2013-04-23       Impact factor: 5.810

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