THE MOLECULAR BASIS OF THE PARTIAL PENETRANCE OF CFTR INTRON-EXON 9 JUNCTION POLYMORPHISMS

Pubblicazioni Scientifiche

• 2004 JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

  An intronic mutation causes long QT syndrome

• 2002 JOURNAL OF BIOLOGICAL CHEMISTRY

  Regulation of 3 ' splice site selection in the 844ins68 polymorphism of the cystathionine beta-synthase gene

• 2001 EMBO JOURNAL

  Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

• 1999 HUMAN MOLECULAR GENETICS

  Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9

• 2000 JOURNAL OF BIOLOGICAL CHEMISTRY

  Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element

• 2004 MOLECULAR AND CELLULAR BIOLOGY

  RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA dxon

• 2001 JOURNAL OF BIOLOGICAL CHEMISTRY

  Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9