Recent Publications on Oculocerebrorenal Syndrome: |  |
Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity.
Small GTPase Rab is generally thought to control intracellular membrane...
Direct Link | 22nd August, 2008
| Laboratory of Membrane Trafficking Mechanisms, Department of Developmental
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Renal manifestations of Dent disease and Lowe syndrome.
To date, two responsible genes for the development of Dent disease have...
Direct Link | 5th June, 2008
| Department of Pediatrics, Gachon University of Medicine and Science, Gil
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All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe...
Direct Link | 23rd April, 2008
| Department of Cell Biology, Boyer Center for Molecular Medicine, Yale
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| [The Lowe syndrome in a 16-year-old patient--case report]
| 2nd April, 2008
| Katedra i Klinika Okulistyki Akademii Medycznej im. Karola Marcinkowskiego
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| [From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]
| 9th January, 2008
| Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
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Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4.
Phosphoinositides are involved in endocytosis in both mammalian cells and...
Direct Link | 9th January, 2008
| Department of Molecular Cell Biology, University of Groningen, Kerklaan
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Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome.
The renal Fanconi syndrome is a defect of proximal tubular function...
Direct Link | 27th September, 2007
| Second University of Naples, Italy.
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| Oculocerebrorenal Lowe syndrome: a literature review and two case reports.
| 28th August, 2007
| Discipline of Dentistry, Persons with Disabilities Division, Universidade
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Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe.
Oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder...
Direct Link | 25th August, 2007
| Erciyes University,
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| [Bone and mineral metabolism in renal tubular dysfunction]
| 19th August, 2007
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Editor's quiz: GI snapshot. Delayed passage of metallic foreign bodies.
The present paper reviews the dental findings in oculocerebrorenal Lowe...
Direct Link | 7th August, 2007
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OCRL1 mutations in patients with Dent disease phenotype in Japan.
Three distinct OCRL1 mutations in three patients with the Dent disease...
Direct Link | 3rd August, 2007
| Department of Pediatrics, Graduate School of Medicine,The University of
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The inositol polyphosphate 5-phosphatases: traffic controllers, waistline watchers and tumour suppressors?
Phosphoinositide signals regulate cell proliferation, differentiation,...
Direct Link | 28th July, 2007
| Department of Biochemistry and Molecular Biology Monash University,
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[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene]
The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal...
Direct Link | 17th May, 2007
| Augenklinik,
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Poor renal uptake of Tc-99m DMSA in a patient with oculocerebrorenal dystrophy (Lowe syndrome).
Phosphoinositide signals regulate cell proliferation, differentiation,...
Direct Link | 28th March, 2007
| Department of Nuclear Medicine, Wonkwang University School of Medicine,
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