Evidence map›Paper›PMID 39430512›Full record

ArticleHeliyon2024

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

Inger-Lise Mero, Juan Manuel Orozco Rodriguez, Kathrine Bjørgo, Renee Alexandra Hankin, Ewa Krupinska, Mari Ann Kulseth, Marvin Anthony Rossow, Wolfgang Knecht

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Inger-Lise MeroDepartment of Medical Genetics, Oslo University Hospital, PB 4956 Nydalen, 0424, Oslo, Norway.
Juan Manuel Orozco RodriguezDepartment of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden.
Kathrine BjørgoDepartment of Medical Genetics, Oslo University Hospital, PB 4956 Nydalen, 0424, Oslo, Norway.
Renee Alexandra HankinDepartment of Radiology, Oslo University Hospital, PB 4950 Nydalen, 0424, Oslo, Norway.
Ewa KrupinskaDepartment of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden.
Mari Ann KulsethDepartment of Medical Genetics, Oslo University Hospital, PB 4956 Nydalen, 0424, Oslo, Norway.
Marvin Anthony RossowDepartment of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden.
Wolfgang KnechtDepartment of Biology & Lund Protein Production Platform, Lund University, Sölvegatan 35, 22362, Lund, Sweden.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dihydroorotate dehydrogenase (DHODH) catalyzes the fourth enzymatic reaction of the pyrimidine biosynthesis pathway. Miller syndrome, also known as postaxial acrofacial dysostosis, is caused by biallelic pathogenic variants in

Indexed as

BiophysicsEnzymologyInborn errors of metabolismProtein productionPurine and pyrimidine metabolism

Identifiers

PMID39430512
PMCPMC11489341

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.