Evidence map›Paper›PMID 40242210›Full record

ArticleJournal of the Endocrine Society2025

Felipe Freitas-Castro, Lucas S Santana, Gustavo F C Fagundes, Eduardo C Lobato, Ana Caroline F Afonso, Izabel T Nakamura, Felipe L Ledesma, Ibere C Soares, Berenice B Mendonca, Ana Claudia Latronico and 2 more

Abstract read
In one paragraph

Article in Journal of the Endocrine Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026
    Review
  2. Journal of the Endocrine Society · 2025
    Article
  3. Phenotypic Carney-Stratakis syndrome withProceedings (Baylor University. Medical Center) · 2025
    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

12 authors.

Felipe Freitas-CastroUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.ORCID https://orcid.org/0000-0002-5340-432X
Lucas S SantanaUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Gustavo F C FagundesUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Eduardo C LobatoUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Ana Caroline F AfonsoLaboratório de Hormônios e Genética Molecular LIM42 e Laboratório de Sequenciamento em Larga Escala (SELA), Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Izabel T NakamuraUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Felipe L LedesmaDivisão de Anatomia Patológica, Hospital das Clínicas HCFMUSP & Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Ibere C SoaresDivisão de Anatomia Patológica, Hospital das Clínicas HCFMUSP & Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Berenice B MendoncaLaboratório de Hormônios e Genética Molecular LIM42 e Laboratório de Sequenciamento em Larga Escala (SELA), Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Ana Claudia LatronicoUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Constantine A StratakisHuman Genetics & Precision Medicine, IMBB, FORTH, Heraklion, Crete & ASTREA Health, Athens 11528, Greece.
Madson Q AlmeidaUnidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.ORCID https://orcid.org/0000-0002-2957-6148

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Carney-Stratakis syndrome (CSS), a rare condition characterized by paragangliomas and/or pheochromocytomas and gastrointestinal stromal tumors (GIST), is caused by germline heterozygous pathogenic variants in the succinate dehydrogenase subunit genes ( Methods: Histological, genetic, and functional analyses were conducted in a 59-year-old female with CSS (9 cm left pheochromocytoma, 4.8 cm paraganglioma, and 9.3 cm GIST). Whole-exome sequencing (WES) of germline DNA paired with tumor DNA was performed. Results: WES identified a rare heterozygous germline variant (c.293G>A/p.Arg98His) in the mitochondrial 2-oxoglutarate/malate carrier gene ( Conclusion: The loss of SLC25A11 expression in tumors, the absence of somatic drivers, and the hypermethylation status strongly support the role of

Indexed as

Carney-Stratakis syndromegeneticsparagangliomapheochromocytoma

Identifiers

PMID40242210
PMCPMC12000648

What OpenQuestion holds

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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.