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
38806661 (PubMed )
Supplement: 41431_2024_1627_MOESM2_ESM.xlsx › Sheet1
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
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R et al.
Npj Genomic Medicine, 2021
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
Drole Torkar A et al.
Frontiers in Endocrinology, 2021
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
Khan S et al.
Annals of Human Genetics, 2019
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
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L et al.
European Journal of Human Genetics : Ejhg, 2013
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Jacoby M et al.
Nature Genetics, 2009
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