Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Source :

• Human Mutation [ 1059-7794 ] ; 2012-04.

Descripteurs français

• Wicri :
  • topic : Génétique.

English descriptors

• KwdEn :
  • Actin, Actin binding, Actin cytoskeleton, Amino acid substitutions, Atelosteogenesis, Avidity, Bicknell, Biol, Cell line transfected, Clinical genetics, Cytoskeletal, Cytoskeleton, Dysplasia, Filamin, Flna, Flna expression, Flnb, Flnb mutations, Focal accumulation, Focal accumulations, Fusion protein, Gamma adjustment, Gene encoding, Genet, Genetics, Hartwig, Human genetics, Human mutation, Krakow, Lamin, Larsen, Mechanosensory properties, Missense, Missense mutations, Mutant, Mutant flnb, Mutation, Phenotype, Proc natl acad, Reference sequence, Robertson, Sawyer, Similar results, Skeletal dysplasias, Stossel, Subdomain, Substitution, Supp, Syndrome, Transfected, Transfected cells, Transfection, University hospital.
• Teeft :
  • Actin, Actin binding, Actin cytoskeleton, Amino acid substitutions, Atelosteogenesis, Avidity, Bicknell, Biol, Cell line transfected, Clinical genetics, Cytoskeletal, Cytoskeleton, Dysplasia, Filamin, Flna, Flna expression, Flnb, Flnb mutations, Focal accumulation, Focal accumulations, Fusion protein, Gamma adjustment, Gene encoding, Genet, Genetics, Hartwig, Human genetics, Human mutation, Krakow, Lamin, Larsen, Mechanosensory properties, Missense, Missense mutations, Mutant, Mutant flnb, Mutation, Phenotype, Proc natl acad, Reference sequence, Robertson, Sawyer, Similar results, Skeletal dysplasias, Stossel, Subdomain, Substitution, Supp, Syndrome, Transfected, Transfected cells, Transfection, University hospital.

Abstract

• https://api.istex.fr/document/CDCDE85965C68333544D75B732FB85289CC4D05A/fulltext/pdf

Affiliations:

• Allemagne, Australie, Belgique, Corée du Sud, Danemark, France, Iran, Italie, Japon, Norvège, Nouvelle-Zélande, Pays-Bas, Royaume-Uni, Serbie, Suisse, Turquie, États-Unis
• Bavière, Californie, Canton de Vaud, District de Haute-Bavière, Hauts-de-France, Hollande-Méridionale, Hovedstaden, Nouvelle-Galles du Sud, Pays de la Loire, Picardie, Région capitale de Séoul, Région de Kantō, Saxe-Anhalt, Île-de-France, Østlandet
• Amiens, Copenhague, Lausanne, Leyde, Magdebourg, Munich, Nantes, Oslo, Paris, Sydney, Séoul, Tokyo

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002642
• to stream Istex, to step Curation: 002642
• to stream Istex, to step Checkpoint: 000623
• to stream Main, to step Merge: 005965
• to stream Main, to step Curation: 005698

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   |texte=   Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
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