Evidence map›Paper›PMID 40206408›Full record

ArticleFrontiers in neuroscience2025

Clinical and molecular overlap between nucleotide excision repair (NER) disorders and

Nicolas Le May, Jérémie Courraud, Imène Boujelbène, Cathy Obringer, Tomoo Ogi, Alan R Lehmann, Fanny Laffargue, Daphné Lehalle, Seiji Mizuno, Shehla Mohammed and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neuroscience, 2025. 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

14 authors.

Nicolas Le MayLaboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.
Jérémie CourraudEquipe Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France.
Imène BoujelbèneEquipe Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France.
Cathy ObringerLaboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.
Tomoo OgiResearch Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Alan R LehmannGenome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.
Fanny LaffargueService de génétique médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Daphné LehalleService de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
Seiji MizunoCentral Hospital, Aichi Developmental Disability Center, Kamiya, Kasugai, Japan.
Shehla MohammedSouth East Thames Regional Genetics Service, Guy's Hospital, London, United Kingdom.
Clothilde OrmièresService de Génétique Clinique, Hôpital Necker-Enfants Malades, Paris, France.
Marjolaine WillemsEquipe Maladies Génétiques de l'Enfant et de l'Adulte, CHU de Montpellier, Montpellier, France.
Vincent Laugel *Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.
Nadège Calmels *Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nucleotide excision repair (NER) disorders are genetic conditions caused by defects in the pathway responsible for repairing DNA lesions due to UV radiation. These defects lead to a variety of heterogeneous disorders, including Cockayne syndrome (CS) and trichothiodystrophy (TTD). In this study, we report 11 patients initially suspected of having CS or TTD who were ultimately diagnosed with

Indexed as

Cockayne syndromeDYRK1A geneERCC6/CSB geneERCC8/CSA genenucleotide excision repair (NER)trichothiodystrophy

Identifiers

PMID40206408
PMCPMC11979163

What Socratic 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 Socratic graph.