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
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 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
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R et al.
Npj Genomic Medicine, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.
Shetty M et al.
Molecular Syndromology, 2017
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.
Hasegawa J et al.
The Embo Journal, 2016
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
INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.
Plotnikova OV et al.
Journal of Cell Science, 2015
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L et al.
European Journal of Human Genetics : Ejhg, 2013
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.
Luo N et al.
Vision Research, 2012
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.
Conduit SE et al.
Febs Letters, 2012
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL et al.
Nature Genetics, 2009
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0