Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis
Authors
Keywords
-
Journal
Scientific Reports
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-04-27
DOI
10.1038/s41598-017-01447-3
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Novel Mutation of OCRL1 in Lowe Syndrome
- (2014) Ting Liu et al. INDIAN JOURNAL OF PEDIATRICS
- Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome
- (2014) Florian Recker et al. PEDIATRIC NEPHROLOGY
- Primary cilia signaling mediates intraocular pressure sensation
- (2014) N. Luo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structural Basis for Phosphoinositide Substrate Recognition, Catalysis, and Membrane Interactions in Human Inositol Polyphosphate 5-Phosphatases
- (2014) Lionel Trésaugues et al. STRUCTURE
- A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome
- (2014) Keisuke Sugimoto et al. TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
- Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies
- (2012) Sarah E. Conduit et al. FEBS LETTERS
- A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome
- (2012) Ramón Peces et al. INTERNATIONAL UROLOGY AND NEPHROLOGY
- A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL
- (2012) S. Pasternack et al. KLINISCHE PADIATRIE
- Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family
- (2011) Markus Draaken et al. HUMAN GENETICS
- Impaired neural development in a zebrafish model for Lowe syndrome
- (2011) Irene Barinaga-Rementeria Ramirez et al. HUMAN MOLECULAR GENETICS
- Recognition of the F&H motif by the Lowe syndrome protein OCRL
- (2011) Michelle Pirruccello et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts
- (2011) Vladimir J. Lozanovski et al. World Journal of Pediatrics
- Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome
- (2010) Takeo Kubota et al. CLINICAL GENETICS
- From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes
- (2010) Haifa Hichri et al. HUMAN MUTATION
- A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism
- (2009) Yuxin Mao et al. EMBO JOURNAL
- Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome with Novel OCRL1 Gene Mutation
- (2009) Adnan Yuksel et al. JOURNAL OF CHILD NEUROLOGY
- All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
- (2008) Heather J. McCrea et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Mutations in OCRL1 gene in Indian children with Lowe syndrome
- (2008) Sidharth Kumar Sethi et al. Clinical and Experimental Nephrology
- Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction
- (2008) D. Bockenhauer et al. Clinical Journal of the American Society of Nephrology
- Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome
- (2003) J Peverall et al. CLINICAL GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now