Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.

Journal of the American Society of Nephrology : JASN - 1 Mar 2011

Bothwell Susan P, Chan Emily, Bernardini Isa M, Kuo Yien-Ming, Gahl William A, Nussbaum Robert L

Abstract excerpt

The Lowe oculocerebrorenal syndrome is an X-linked disorder characterized by congenital cataracts, cognitive disability, and proximal tubular dysfunction. Both this syndrome and Dent Disease 2 result from loss-of-function mutations in the OCRL gene, which encodes a type II phosphatidylinositol bi...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disease Models, Animal
Share to Kidney Tubules
Share to Mice, Inbred C57BL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Knockout

Share to Mice, Mutant Strains

Share to Mice, Transgenic

Share to Oculocerebrorenal Syndrome

Share to Phosphoric Monoester Hydrolases

Source

Open in PubMed Open full text

Identifiers

PMID: 21183592
DOI: 10.1681/ASN.2010050565
PMCID: PMC3060438

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21183592-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.PMID 21183592Read ↗

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.Semantic proximity Read ↗

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.Semantic proximity Read ↗

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.Semantic proximity Read ↗

Dent Disease with mutations in OCRL1.Semantic proximity Read ↗

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Semantic proximity Read ↗

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

A role for OCRL in glomerular function and disease.Semantic proximity Read ↗

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.Semantic proximity Read ↗

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.Semantic proximity Read ↗

Dent's disease: clinical features and molecular basis.Semantic proximity Read ↗

Renal manifestations of Dent disease and Lowe syndrome.Semantic proximity Read ↗

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.