Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our data suggest a unifying model to explain how loss of OCRL results in tubular proteinuria as well as the other commonly observed renal manifestations of LS.
|
31676724 |
2020 |
Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
These studies substantiate the first mouse model of Lowe syndrome and give insights into the role of OCRL in cellular trafficking of multiligand receptors.
|
30590522 |
2019 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss of the phosphoinositide 5-phosphatase OCRL causes accumulation of PtdIns(4,5)P<sub>2</sub> on membranes and, ultimately, Lowe syndrome.In this issue, Mondin et al.(2019.<i>J.
|
31189610 |
2019 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation of OCRL1, the human orthologue of dOCRL, causes oculocerebrorenal Lowe syndrome, a rare multisystemic genetic disease.
|
31118240 |
2019 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A key subset of LS mutants abolishes OCRL's interactions with endocytic adaptors containing F&H peptide motifs.
|
31216233 |
2019 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In particular, the considerable phenotypic overlap, yet distinct features, between this syndrome and Lowe's syndrome, which is caused by mutations in the PI-5-phosphatase OCRL, highlight the key role of PI metabolizing enzymes in specific developmental processes and demonstrate the unique non-redundant functions of each enzyme.
|
31034465 |
2019 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of an interstitial deletion encompassing OCRL and SMARCA1 gene in Lowe syndrome.
|
31376231 |
2019 |
Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
IPIP27 scaffolds the inositol phosphatase oculocerebrorenal syndrome of Lowe (OCRL) by coupling it to endocytic BAR domain proteins.
|
30799246 |
2019 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A truncating mutation in exon 8 of OCRL1 was reported in a case of Lowe syndrome with cataract.
|
28991511 |
2018 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
|
27708066 |
2018 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
|
29300302 |
2018 |
Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Conserved retrograde trafficking components, such as the retromer coat complex or the phosphoinositide (PI) 5-phosphatase <i>D. discoideum</i> 5-phosphatase 4 (Dd5P4)/oculocerebrorenal syndrome of Lowe (OCRL), restrict intracellular replication of <i>L. pneumophila</i> by an unknown mechanism.
|
29602783 |
2018 |
Oculocerebrorenal Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
|
28973083 |
2017 |
Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We discuss how studies of OCRL have led to important discoveries about the basic mechanisms of membrane trafficking and describe the key features and limitations of the currently available animal models of Lowe syndrome.
|
28669993 |
2017 |
Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2).
|
27757584 |
2017 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Accumulation of ciliary PI(4,5)P<sub>2</sub> was pronounced in mouse embryonic fibroblasts (MEFs) derived from Lowe syndrome mouse model as well as in <i>Ocrl</i>-null MEFs, which was reversed by reintroduction of OCRL.
|
28871046 |
2017 |
Oculocerebrorenal Syndrome
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
|
28803024 |
2017 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe here a proof of principle for a targeted gene therapy on a mutation of the OCRL gene that is associated with Lowe syndrome.
|
27790796 |
2017 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments.
|
28473699 |
2017 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the inositol 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease.
|
26510499 |
2016 |
Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this review, we provide an update on clinical and molecular genetic findings in Lowe syndrome and the cellular and physiological functions of OCRL-1.
|
27011217 |
2016 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since more mutations may exist in Chinese patients, we sequenced and analyzed the OCRL genes of six children with Lowe syndrome in a medical center in China.
|
27059748 |
2016 |
Oculocerebrorenal Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hence, autophagosomes accumulate in OCRL-depleted cells and in the kidneys of Lowe syndrome patients.
|
27398910 |
2016 |
Oculocerebrorenal Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Altogether, we describe here differential phenotypes between fibroblasts from Lowe and Dent-2 patients, both associated with OCRL LOF mutations, we exclude direct roles of PI(4,5)P2 and INPP5B in this phenotypic variability and we underline potential key alterations leading to ocular and neurological clinical features in Lowe syndrome.
|
25305077 |
2015 |
Oculocerebrorenal Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
|
25480730 |
2015 |