Evidence map›Paper›PMID 35111200›Full record

ArticleFrontiers in genetics2021

XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.

Ligia Pereira Castro, Danilo Batista-Vieira, Tiago Antonio de Souza, Ana Rafaela de Souza Timoteo, Jessica Dayanna Landivar Coutinho, Isabel Cristina Pinheiro de Almeida, Sheila Ramos de Miranda Henriques, Fabio Medeiros de Azevedo, Reginaldo Cruz Alves Rosa, Patricia L Kannouche and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 43% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Xeroderma pigmentosum with multiple skin carcinoma and a homogenousThe Journal of international medical research · 2026
    Review
  3. Article
  4. 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

13 authors at 5 institutions in 3 countries.

Ligia Pereira CastroDNA Repair Laboratory, Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Danilo Batista-VieiraDNA Repair Laboratory, Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Tiago Antonio de SouzaDNA Repair Laboratory, Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Ana Rafaela de Souza TimoteoDepartment of Cell Biology and Genetics Federal University of Rio Grande do Norte, Natal, Brazil.
Jessica Dayanna Landivar CoutinhoDepartment of Cell Biology and Genetics Federal University of Rio Grande do Norte, Natal, Brazil.
Isabel Cristina Pinheiro de AlmeidaInstituto de Ensino, Pesquisa e Inovação, Liga Contra o Câncer, CECAN, Natal, Brazil.
Sheila Ramos de Miranda HenriquesInstituto de Ensino, Pesquisa e Inovação, Liga Contra o Câncer, CECAN, Natal, Brazil.
Fabio Medeiros de AzevedoInstituto de Ensino, Pesquisa e Inovação, Liga Contra o Câncer, CECAN, Natal, Brazil.
Reginaldo Cruz Alves RosaDepartment of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Patricia L KannoucheUMR9019 - CNRS, Genome Integrity and Cancers, Université Paris-Saclay, Gustave Roussy, France.
Alain SarasinUMR9019 - CNRS, Genome Integrity and Cancers, Université Paris-Saclay, Gustave Roussy, France.
Carlos Frederico Martins MenckDNA Repair Laboratory, Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Tirzah Braz PettaDepartment of Cell Biology and Genetics Federal University of Rio Grande do Norte, Natal, Brazil.
Universidade de São Paulo · BRUniversidade Federal do Rio Grande do Norte · BRUniversité Paris-Saclay · FRCentre National de la Recherche Scientifique · FRKarolinska University Hospital · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Xeroderma pigmentosum (XP) is a rare genetic condition in which exposure to sunlight leads to a high tumor incidence due to defective DNA repair machinery. Herein, we investigated seven patients clinically diagnosed with XP living in a small city, Montanhas (Rio Grande do Norte), in the Northeast region of Brazil. We performed high-throughput sequencing and, surprisingly, identified two different mutated genes. Six patients carry a novel homozygote mutation in the

Indexed as

DNA repairgenetic clustermolecular diagnosisskin cancerxeroderma pigmentosum

Identifiers

PMID35111200
PMCPMC8801741
OpenAlexW4206264196

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.