In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation

Source :

• Human Mutation [ 1059-7794 ] ; 2009-02.

English descriptors

• KwdEn :
  • Aggregation, Alanine, Alanine expansion mutations, Alanine expansions, Alanines expansion, Amiel, Amino, Amino acids, Bachetti, Central hypoventilation syndrome, Codon, Congenital, Cytoplasmic, Cytoplasmic aggregation, Form oligomers, Frameshift, Frameshift mutants, Frameshift mutations, Genet, Hela, Hela cells, Heterozygous phox2b mutations, Hirschsprung disease, Homeodomain, Hscr, Hypoventilation, Hypoventilation syndrome, Incomplete penetrance, Luciferase, Misfolding, Missense, Missense mutations, Mosse, Mutant, Mutant protein, Mutant proteins, Mutation, Neuroblastoma, Nonsense mutations, Nuclear extracts, Pcdna, Phenotype, Phox2a, Phox2a promoter, Phox2b, Phox2b cdna, Phox2b frameshift mutations, Phox2b mutations, Phox2b protein, Plasmid, Polyalanine, Polyalanine expansions, Polyalanine phox2b mutations, Polyalanine tract, Promoter, Protein misfolding, Reading frame, Respir crit care, Respiratory phenotype, Syndrome, Transactivation, Transcription, Transcription factor, Transcriptional activity, Transfected, Trochet, Ventilatory, Ventilatory phenotype, Western blot analysis, Wild type, Wild type protein.
• Teeft :
  • Aggregation, Alanine, Alanine expansion mutations, Alanine expansions, Alanines expansion, Amiel, Amino, Amino acids, Bachetti, Central hypoventilation syndrome, Codon, Congenital, Cytoplasmic, Cytoplasmic aggregation, Form oligomers, Frameshift, Frameshift mutants, Frameshift mutations, Genet, Hela, Hela cells, Heterozygous phox2b mutations, Hirschsprung disease, Homeodomain, Hscr, Hypoventilation, Hypoventilation syndrome, Incomplete penetrance, Luciferase, Misfolding, Missense, Missense mutations, Mosse, Mutant, Mutant protein, Mutant proteins, Mutation, Neuroblastoma, Nonsense mutations, Nuclear extracts, Pcdna, Phenotype, Phox2a, Phox2a promoter, Phox2b, Phox2b cdna, Phox2b frameshift mutations, Phox2b mutations, Phox2b protein, Plasmid, Polyalanine, Polyalanine expansions, Polyalanine phox2b mutations, Polyalanine tract, Promoter, Protein misfolding, Reading frame, Respir crit care, Respiratory phenotype, Syndrome, Transactivation, Transcription, Transcription factor, Transcriptional activity, Transfected, Trochet, Ventilatory, Ventilatory phenotype, Western blot analysis, Wild type, Wild type protein.

Abstract

• https://api.istex.fr/document/4EBE84C33F4F1814DBBAFA4E1C035C2977480ADE/fulltext/pdf

Affiliations:

• Australie, France
• Île-de-France
• Paris
• Université Paris-Descartes

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