Associated Papers
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Hakeem A et al.
International Journal of Biological Sciences, 2025
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Whiting KR et al.
European Journal of Human Genetics : Ejhg, 2024
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Pyatla G et al.
International Journal of Molecular Sciences, 2024
39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S4_INPP5E_reported_phenotypes.xlsx › Sheet1
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 2022
Multiple ciliary localization signals control INPP5E ciliary targeting.
Cilleros-Rodriguez D et al.
Elife, 2022
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R et al.
Npj Genomic Medicine, 2021
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
de Goede C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG et al.
Journal of Medical Genetics, 2016
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L et al.
European Journal of Human Genetics : Ejhg, 2013
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