Evidence map›Paper›PMID 40225922›Full record

ArticleHuman mutation2024

Homozygous

Virginia Clowes, Xiaolun Ma, Hannah Maude, Catherine Dennis, Qing Gao, Geraldine Quinn, Edel A O'Toole, Kapila Batta, Inês Cebola, Wei Cui

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 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

10 authors.

Virginia Clowes *North West Thames Regional Genetics Service Northwick Park and St Mark's Hospitals, London HA1 3UJ, UK.ORCID 0000-0002-4085-169X
Xiaolun Ma *Institute of Reproductive and Developmental Biology Department of Metabolism Digestion and Reproduction Imperial College London, London W12 0NN, UK.
Hannah Maude *Section of Genetics and Genomics Department of Metabolism Digestion and Reproduction Imperial College London, London W12 0NN, UK.ORCID 0000-0002-7593-4516
Catherine DennisNorth West Thames Regional Genetics Service Northwick Park and St Mark's Hospitals, London HA1 3UJ, UK.ORCID 0000-0001-5022-6583
Qing GaoInstitute of Reproductive and Developmental Biology Department of Metabolism Digestion and Reproduction Imperial College London, London W12 0NN, UK.
Geraldine QuinnDepartment of Dermatology Luton and Dunstable NHS TRUST, Luton LU1 2LJ, UK.ORCID 0000-0003-2449-8600
Edel A O'TooleCentre for Cell Biology and Cutaneous Research Blizard Institute Faculty of Medicine and Dentistry Queen Mary University of London, London E1 2AT, UK.ORCID 0000-0002-4084-4836
Kapila BattaDepartment of Dermatology West Hertfordshire Hospitals NHS Trust, Vicarage Road, Watford WD18 0HB, UK.
Inês CebolaNorth West Thames Regional Genetics Service Northwick Park and St Mark's Hospitals, London HA1 3UJ, UK.ORCID 0000-0003-3528-4982
Wei CuiInstitute of Reproductive and Developmental Biology Department of Metabolism Digestion and Reproduction Imperial College London, London W12 0NN, UK.ORCID 0000-0003-2019-380X

Funding

Wellcome Trust
6 · The paper itself

Abstract

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder characterized by reduced or absent hair and dystrophic nails. PHNED is caused by pathogenic variants in genes involved in hair and nail development, including

Indexed as

Ectodermal DysplasiaHomeodomain ProteinsMutationHairHomozygoteHumansModels, MolecularPedigreeProtein StabilityHomeodomain ProteinsHOXC13 protein, humanclinical geneticsectodermal dysplasiaHOXC13PHNEDprotein stability

Identifiers

PMID40225922
PMCPMC11919099

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.