Evidence map›Paper›PMID 28473699›Full record

ArticleScientific reports2017

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.

Emilie Song, Na Luo, Jorge A Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 17 citations in OpenAlex.

  1. Clinical variation in Lowe syndrome: what and how?Frontiers in cell and developmental biology · 2025
    Review
  2. Review
  3. Article
  4. Review
  5. Dent disease: classification, heterogeneity and diagnosis.World journal of pediatrics : WJP · 2021
    Review
  6. Article
  7. Loss of OCRL increases ciliary PI(4,5)PJournal of cell science · 2017
    Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Emilie SongDepartment of Ophthalmology, Indiana University, Indianapolis, IN, USA.
Na LuoDepartment of Ophthalmology, Indiana University, Indianapolis, IN, USA.ORCID 0000-0002-8046-9372
Jorge A AlvaradoDepartment of Ophthalmology, Indiana University, Indianapolis, IN, USA.
Maria LimDepartment of Ophthalmology, Indiana University, Indianapolis, IN, USA.
Cathleen WalnussDepartment of Ophthalmology, Indiana University, Indianapolis, IN, USA.
Daniel NeelyDepartment of Ophthalmology, Indiana University, Indianapolis, IN, USA.
Dan SpandauDepartment of Dermatology, Indiana University, Indianapolis, IN, USA.
Alireza GhaffariehDepartment of Pathology, Indiana University, Indianapolis, IN, USA.
Yang SunDepartment of Ophthalmology, Indiana University, Indianapolis, IN, USA. yangsun@stanford.edu.
Indiana University – Purdue University Indianapolis · USPalo Alto Veterans Institute for Research · US

Funding

Rapid-Prototyping and Design CoreP30EY002162 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ULLIAN, ERIK M · 1985 to 2024
$16.8M
The role of primary cilia in glaucoma pathogenesisR01EY025295 · NEI · STANFORD UNIVERSITY · PI Yang Sun · 2016 to 2026
$3.5M
Glaucoma Pathogenesis of Oculocerebrorenal syndrome of LoweK08EY022058 · NEI · STANFORD UNIVERSITY · PI SUN, YANG · 2012 to 2016
$994k
Shedding light on glaucoma: optogenetics regulation of ciliary phosphoinositidesI01CX001481 · VA · VETERANS ADMIN PALO ALTO HEALTH CARE SYS · PI SUN, YANG · 2017 to 2025
–
CSRD VA I01 CX001481NEI NIH HHS K08 EY022058NEI NIH HHS P30 EY002162NEI NIH HHS R01 EY025295
6 · The paper itself

Abstract

Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates phosphatidylinositide 4,5 bisphosphate (PI(4,5)P

Indexed as

EyeGenotypeGlaucomaHumansKeratinocytesMaleMutation, MissenseOculocerebrorenal SyndromePedigreePhenotypePhosphoric Monoester HydrolasesProtein Structure, TertiarySequence DeletionOCRL protein, humanPhosphoric Monoester Hydrolases

Identifiers

PMID28473699
PMCPMC5431454
OpenAlexW2609294195

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.