Evidence map›Paper›PMID 27917291›Full record

ArticleHuman genome variation2016

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.

Inayat Ullah, Firoz Kabir, Clare Brooks S Gottsch, Muhammad Asif Naeem, Aditya A Guru, Radha Ayyagari, Shaheen N Khan, Sheikh Riazuddin, Javed Akram, S Amer Riazuddin

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

Article in Human genome variation, 2016. 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
0.2field-weighted citation impact, top 34% 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, 9 citations in OpenAlex.

  1. Article
  2. A patient with albinism and retinitis pigmentosa, a case report.American journal of ophthalmology case reports · 2024
    Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Novel mutations inInternational journal of ophthalmology · 2021
    Article
  8. Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations inFrontiers in cell and developmental biology · 2021
    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

10 authors at 6 institutions in 2 countries.

Inayat UllahNational Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
Firoz KabirThe Wilmer Eye Institute, Johns Hopkins University School of Medicine , Baltimore, MD, USA.
Clare Brooks S GottschThe Wilmer Eye Institute, Johns Hopkins University School of Medicine , Baltimore, MD, USA.
Muhammad Asif NaeemNational Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
Aditya A GuruShiley Eye Institute, University of California San Diego , La Jolla, CA, USA.
Radha AyyagariShiley Eye Institute, University of California San Diego , La Jolla, CA, USA.
Shaheen N KhanNational Centre of Excellence in Molecular Biology, University of the Punjab , Lahore, Pakistan.
Sheikh RiazuddinNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Javed AkramAllama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
S Amer RiazuddinThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Centre of Excellence in Molecular Biology · PKJohns Hopkins University · USSmith-Kettlewell Eye Research Institute · USUniversity of Health Sciences Lahore · PKJohns Hopkins Medicine · USUniversity of the Punjab · PK

Funding

Molecular Basis of Hereditary Retinal DegenerationsR01EY021237 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2011 to 2020
$5.6M
NEI NIH HHS R01 EY021237
6 · The paper itself

Abstract

To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in

Identifiers

PMID27917291
PMCPMC5112436
OpenAlexW2549590195

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.