Evidence map›Paper›PMID 39596632›Full record

ArticleGenes2024

Molecular and Functional Assessment of

Luiz Gustavo Dufner-Almeida, Laís F M Cardozo, Mariana R Schwind, Danielly Carvalho, Juliana Paula G Almeida, Andrea Maria Cappellano, Thiago G P Alegria, Santoesha Nanhoe, Mark Nellist, Maria Rita Passos-Bueno and 6 more

Abstract read
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Observational
  3. Observational
  4. Article
  5. Article
  6. 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

16 authors.

Luiz Gustavo Dufner-AlmeidaHuman Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-090, Brazil.ORCID 0000-0003-0831-0380
Laís F M CardozoPediatric Neurology Center, Department of Pediatrics, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba 80060-900, Brazil.ORCID 0000-0002-8674-4152
Mariana R SchwindPediatric Neurology Center, Department of Pediatrics, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba 80060-900, Brazil.
Danielly CarvalhoPediatric Neurology Center, Department of Pediatrics, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba 80060-900, Brazil.
Juliana Paula G AlmeidaDivision of Neurology, Department of Pediatrics, Santa Casa de Misericórdia, São Paulo 01221-010, Brazil.ORCID 0000-0002-5692-5577
Andrea Maria CappellanoGrupo de Apoio ao Adolescente e à Criança com Câncer, Instituto de Oncologia Pediátrica, Universidade Federal de São Paulo, São Paulo 04039-001, Brazil.
Thiago G P AlegriaHuman Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-090, Brazil.
Santoesha NanhoeDepartment of Clinical Genetics, Erasmus Medical Center, 3015 Rotterdam, The Netherlands.
Mark NellistDepartment of Clinical Genetics, Erasmus Medical Center, 3015 Rotterdam, The Netherlands.
Maria Rita Passos-BuenoHuman Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-090, Brazil.
Silvana ChiavegattoDepartment of Pharmacology, Instituto de Ciências Biomédicas, Universidade de São Paulo, São Paulo 05508-000, Brazil.ORCID 0000-0001-9511-653X
Nasjla S SilvaGrupo de Apoio ao Adolescente e à Criança com Câncer, Instituto de Oncologia Pediátrica, Universidade Federal de São Paulo, São Paulo 04039-001, Brazil.
Sérgio RosembergDivision of Neurology, Department of Pediatrics, Santa Casa de Misericórdia, São Paulo 01221-010, Brazil.
Ana Paula A PereiraDepartment of Psychology, Universidade Federal do Paraná, Curitiba 80060-000, Brazil.
Sérgio Antônio AntoniukPediatric Neurology Center, Department of Pediatrics, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba 80060-900, Brazil.
Luciana A HaddadHuman Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-090, Brazil.

Funding

Brazil Ministry of Education Process 20380009/2024Coordenação de Aperfeicoamento de Pessoal de Nível Superior 1570747 and 88881.132401/2016-01Fundação de Amparo à Pesquisa do Estado de São Paulo 2011/14329-9, 2013/08028-1 and 2019/10868-4Michelle Foundation (The Netherlands) 00Tuberous Sclerosis Association 2016-P07
6 · The paper itself

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant neurodevelopmental disorder and multisystem disease caused by pathogenic DNA alterations in the

Indexed as

Tuberous SclerosisTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinAdolescentAdultChildChild, PreschoolFemaleHumansMaleMutation, MissenseTumor Suppressor ProteinsTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinTumor Suppressor ProteinsAlu repeatmissense variantneurodevelopmental disorderpathogenic alterationsplicing variantTSC1TSC2tuberous sclerosis complex

Identifiers

PMID39596632
PMCPMC11593644

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.