Lista de obras - Fanen P - Dominio Público Uruguay

A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms

artículo científico publicado en 1992

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype

scientific article published on 03 March 2005

A new strategy for direct detection of beta-thalassemia mutations. Experience of the Créteil Center

artículo científico publicado en 1990

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

artículo científico publicado en 1992

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

scientific article published on 01 January 1993

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

scientific article published on 23 July 2011

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

artículo científico publicado en 2012

Antibodies for CFTR studies.

artículo científico publicado en 2004

BK virus (BKV) detection in urine specimens of immunocompromised patients: comparison between the DNA-DNA hybridization assay, the immunofluorescence test and the dot enzyme immunoassay.

artículo científico publicado en 1989

Biochemical methods to assess CFTR expression and membrane localization

article

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

artículo científico publicado en 2012

COMMD1 modulates noxious inflammation in cystic fibrosis.

artículo científico publicado en 2013

COMMD1-mediated ubiquitination regulates CFTR trafficking.

artículo científico publicado en 2011

Cell-specific posttranscriptional regulation of CFTR gene expression via influence of MAPK cascades on 3'UTR part of transcripts.

artículo científico publicado en 2005

Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

artículo científico publicado en 2013

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations

artículo científico publicado en 2013

Correction of G551D-CFTR transport defect in epithelial monolayers by genistein but not by CPX or MPB-07.

artículo científico publicado en 2002

Cystic fibrosis phenotype associated with pancreatic insufficiency does not always reflect the cAMP-dependent chloride conductive pathway defect. Analysis of C225R-CFTR and R1066C-CFTR

artículo científico publicado en 1997

Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.

artículo científico publicado en 2008

Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: application to the detection of point mutations in acute leukemias

artículo científico publicado en 1994

Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis

artículo científico publicado el 1 de febrero de 1992

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.

artículo científico

Global proteomic approach unmasks involvement of keratins 8 and 18 in the delivery of cystic fibrosis transmembrane conductance regulator (CFTR)/deltaF508-CFTR to the plasma membrane

artículo científico publicado en 2004

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations

scientific article published on 09 April 2014

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

artículo científico publicado en 1994

Misprocessing of theCFTRprotein leads to mild cystic fibrosis phenotype

artículo científico publicado en 2005

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

artículo científico publicado en 1992

Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.

artículo científico publicado en 2009

New use for an old drug: COX-independent anti-inflammatory effects of sulindac in models of cystic fibrosis.

artículo científico publicado en 2016

Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture.

artículo científico publicado en 1993

Serum amyloid A protein: not a relevant marker for recognition of cardiac allograft rejection

scientific article published on 01 September 2004

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

artículo científico publicado en 1999

TGF-beta 1 downregulates CFTR expression and function in nasal polyps of non-CF patients

artículo científico publicado en 2004

Two Mild Cystic Fibrosis-associated Mutations Result in Severe Cystic Fibrosis When Combinedin Cisand Reveal a Residue Important for Cystic Fibrosis Transmembrane Conductance Regulator Processing and Function

scientific article published in Journal of Biological Chemistry

Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping

scientific article published on 27 September 2019

[Cardiac amyloidosis: How to recognize them and manage them?]

artículo científico publicado en 2016

[Genetic disorders of surfactant]

artículo científico publicado en 2012

[Lung diseases in children associated with inherited disorders of surfactant metabolism]

artículo científico publicado en 2013

Lista de obras de Fanen P

A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype

A new strategy for direct detection of beta-thalassemia mutations. Experience of the Créteil Center

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

Antibodies for CFTR studies.

BK virus (BKV) detection in urine specimens of immunocompromised patients: comparison between the DNA-DNA hybridization assay, the immunofluorescence test and the dot enzyme immunoassay.

Biochemical methods to assess CFTR expression and membrane localization

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

COMMD1 modulates noxious inflammation in cystic fibrosis.

COMMD1-mediated ubiquitination regulates CFTR trafficking.

Cell-specific posttranscriptional regulation of CFTR gene expression via influence of MAPK cascades on 3'UTR part of transcripts.

Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations

Correction of G551D-CFTR transport defect in epithelial monolayers by genistein but not by CPX or MPB-07.

Cystic fibrosis phenotype associated with pancreatic insufficiency does not always reflect the cAMP-dependent chloride conductive pathway defect. Analysis of C225R-CFTR and R1066C-CFTR

Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.

Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: application to the detection of point mutations in acute leukemias

Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.

Global proteomic approach unmasks involvement of keratins 8 and 18 in the delivery of cystic fibrosis transmembrane conductance regulator (CFTR)/deltaF508-CFTR to the plasma membrane

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Misprocessing of theCFTRprotein leads to mild cystic fibrosis phenotype

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.

New use for an old drug: COX-independent anti-inflammatory effects of sulindac in models of cystic fibrosis.

Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture.

Serum amyloid A protein: not a relevant marker for recognition of cardiac allograft rejection

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

TGF-beta 1 downregulates CFTR expression and function in nasal polyps of non-CF patients

Two Mild Cystic Fibrosis-associated Mutations Result in Severe Cystic Fibrosis When Combinedin Cisand Reveal a Residue Important for Cystic Fibrosis Transmembrane Conductance Regulator Processing and Function

Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping

[Cardiac amyloidosis: How to recognize them and manage them?]

[Genetic disorders of surfactant]

[Lung diseases in children associated with inherited disorders of surfactant metabolism]