Evidence map›Paper›PMID 37761886›Full record

ArticleGenes2023

A Homozygous

Garrett Bullock, Gary S Johnson, Savannah G Pattridge, Tendai Mhlanga-Mutangadura, Juyuan Guo, James Cook, Rebecca S Campbell, Charles H Vite, Martin L Katz

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

7 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. HomozygousGenes · 2024
    Article
  6. Article
  7. Review
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 3 institutions in 1 country.

Garrett BullockDepartment of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.ORCID 0000-0002-9231-8758
Gary S JohnsonDepartment of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.ORCID 0000-0003-2225-3204
Savannah G PattridgeDepartment of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
Tendai Mhlanga-MutangaduraDepartment of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
Juyuan GuoDepartment of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
James CookSpecialists in Companion Animal Neurology, Clearwater, FL 33765, USA.
Rebecca S CampbellDepartment of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Charles H ViteDepartment of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Martin L KatzNeurodegenerative Diseases Research Laboratory, Department of Ophthalmology, School of Medicine, University of Missouri, Columbia, MO 65212, USA.
Missouri College · USUniversity of Pennsylvania · USUniversity of Missouri · US

Funding

Gene therapy for preserving the visual system in lysosomal storage diseasesR01EY031674 · NEI · UNIVERSITY OF MISSOURI-COLUMBIA · PI KATZ, MARTIN L · 2021 to 2024
$1.6M
Ultramicrotome with necessary accessoriesS10OD032246 · OD · UNIVERSITY OF MISSOURI-COLUMBIA · PI KATZ, MARTIN L · 2022 to 2022
$152k
NEI NIH HHS R01 EY031674NIH HHS S10 OD032246ODCDC CDC HHS S10 OD032246
6 · The paper itself

Abstract

A 7-month-old Doberman Pinscher dog presented with progressive neurological signs and brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was euthanized due to the progression of disease signs. Microscopic examination of tissues collected at the time of euthanasia revealed massive accumulations of vacuolar inclusions in cells throughout the central nervous system, suggestive of a lysosomal storage disorder. A whole genome sequence generated with DNA from the affected dog contained a likely causal, homozygous missense variant in

Indexed as

alpha-MannosidosisLysosomal Storage Diseasesalpha-MannosidaseAnimalsDogsLysosomesMutation, MissenseNeurodegenerative DiseasesVacuolesalpha-Mannosidasebrainlysosomal storage diseaseneurodegenerationneuronal ceroid lipofuscinosis

Identifiers

PMID37761886
PMCPMC10531151
OpenAlexW4386325466

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.