Evidence map›Paper›PMID 37107689›Full record

ArticleGenes2023

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.

Lindsey M Q Wilson, Sadaf Saba, Jun Li, Lev Prasov, Jason M L Miller

Open access · goldAbstract readCase Reports
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 31% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Genetic Background of Macular Telangiectasia Type 2.International journal of molecular sciences · 2025
    Review
  2. 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

5 authors at 2 institutions in 1 country.

Lindsey M Q WilsonDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.ORCID 0000-0002-1198-2156
Sadaf SabaCenter for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Jun LiDepartment of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Lev PrasovDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Jason M L MillerDepartment of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, MI 48105, USA.ORCID 0000-0002-2784-9560
University of Michigan · USWayne State University · US

Funding

MICHIGAN MEDICAL SCIENTIST TRAINING PROGRAMT32GM007863 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COLLINS, KATHLEEN L. · 1985 to 2024
$38.3M
VIVARIUM MODULEP30EY007003 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI David Antonetti · 1987 to 2026
$17.6M
Lipid Trafficking and Metabolism in the Retinal Pigment EpitheliumK08EY033420 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Jason Matthew-Lewis Miller · 2022 to 2026
$1.2M
Defining the genetic landscape of nanophthalmos and the role of MYRFK08EY032098 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PRASOV, LEV · 2021 to 2025
$1.2M
NEI NIH HHS K08 EY032098NEI NIH HHS K08 EY033420NEI NIH HHS P30 EY007003NIGMS NIH HHS T32 GM007863
6 · The paper itself

Abstract

Hereditary sensory and autonomic neuropathy type 1 (HSAN1/HSN1) is a peripheral neuropathy most commonly associated with pathogenic variants in the

Indexed as

Hereditary Sensory and Autonomic NeuropathiesTelangiectasisHumansMaleSerineSerine C-PalmitoyltransferaseSphingolipidsSerineSerine C-PalmitoyltransferaseSphingolipidsSPTLC2 protein, humanceramidesdeoxyceramideshereditary sensory and autonomic neuropathy type 1 (HSAN1)macular telangiectasia type 2 (MacTel2)serine palmitoyltransferase complex 1 (SPTLC1)serine palmitoyltransferase complex 2 (SPTLC2)sphingolipids

Identifiers

PMID37107689
PMCPMC10137565
OpenAlexW4366283433

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.