Titre :
  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Auteur : Bielas, Stephanie L ; Silhavy, Jennifer L ; Brancati, Francesco ; Kisseleva, Marina V ; Al-Gazali, Lihadh ; Sztriha, Laszlo ; Bayoumi, Riad A ; Zaki, Maha S ; Abdel-Aleem, Alice ; Rosti, Rasim Ozgur ; Kayserili, H ; Swistun, Dominika ; Scott, Lesley C ; Bertini, E ; Boltshauser, Eugen ; Fazzi, Elisa ; Travaglini, Lorena ; Field, Seth J ; Gayral, Stéphanie ; Jacoby, Monique ; Schurmans, Stéphane ; Dallapiccola, B ; Majerus, Philip W ; Valente, Enza Maria ; Gleeson, Joseph G
Informations sur la publication : Nature genetics, 41, 9, (page 1032-1036)
Statut de publication : Publié, 2009-09
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Acetylation
Amino Acid Substitution
Animals
Base Sequence
Brain -- radiography
Case-Control Studies
Catalytic Domain
Cell Line
Chromosomes, Human, Pair 9
Cilia -- enzymology
Cilia -- pathology
Consanguinity
Culture Media, Serum-Free
Fibroblasts -- metabolism
Fibroblasts -- ultrastructure
Green Fluorescent Proteins -- metabolism
Haplotypes
Homozygote
Humans
Hydrolysis
Linkage (Genetics)
Mice
Mice, Transgenic
Molecular Sequence Data
Mutation
Mutation, Missense
Phosphatidylinositol 4,5-Diphosphate -- genetics
Phosphatidylinositol Phosphates -- genetics
Phosphatidylinositols -- genetics
Phosphoric Monoester Hydrolases -- chemistry
Phosphoric Monoester Hydrolases -- genetics
Phosphoric Monoester Hydrolases -- metabolism
Physical Chromosome Mapping
Pigment Epithelium of Eye -- cytology
Polymorphism, Single Nucleotide
Protein Structure, Tertiary
Serum -- metabolism
Signal Transduction -- genetics
Tubulin -- metabolism
Note : Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue :
  • Anglais
Identificateurs : urn:issn:1061-4036 
info:doi/10.1038/ng.423
info:pii/ng.423
info:pmid/19668216
info:pmcid/PMC2746682