Associated Papers
Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.
Rossanti R et al.
Kidney International Reports, 2025
Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.
Gwack J et al.
Current Issues in Molecular Biology, 2024
Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.
Zhang Y et al.
Bmc Medical Genomics, 2021
Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny.
Dai C et al.
Growth Factors (chur, Switzerland), 2019
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Suarez-Artiles L et al.
Genes, 2018
Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.
Gao Y et al.
World Journal of Pediatrics : Wjp, 2016
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F et al.
Pediatric Nephrology (berlin, Germany), 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Phosphoinositide phosphatases: just as important as the kinases.
Dyson JM et al.
Sub-cellular Biochemistry, 2012
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Pirruccello M et al.
Nature Structural & Molecular Biology, 2011
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation, 2011
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
Swan LE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
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