Evidence map›Paper›PMID 40395234›Full record

SynthesisFrontiers in medicine2025

Respiratory and other organ manifestations in

Katarzyna Michel, Alba Ruiz-Ramos, Laia Nou-Fontanet, Carmen Martín-Gomez, Beatriz Carmona Hidalgo, Rebeca Isabel-Gomez, María Piedad Rosario-Lozano, Rocio Rodriguez-Lopez, Thomas O F Wagner, Juan Antonio Blasco-Amaro and 2 more

Abstract readSystematic Review
In one paragraph

Synthesis in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Crystal structure of the NKX2-1 homeodomain bound to a palindromic DNA recognition sequence.Acta crystallographica. Section F, Structural biology communications · 2026
    Article
  2. Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026
    Article
  3. Review
  4. International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.Movement disorders : official journal of the Movement Disorder Society · 2026
    Observational
  5. 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.

Katarzyna Michel *Hauner Children's Hospital, Ludwig Maximilians University, German Center for Lung Research (DZL), Munich, Germany.
Alba Ruiz-Ramos *Health Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Laia Nou-FontanetMovement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Carmen Martín-GomezHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Beatriz Carmona HidalgoHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Rebeca Isabel-GomezHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
María Piedad Rosario-LozanoHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Rocio Rodriguez-LopezHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Thomas O F WagnerEuropean Reference Network for Rare Diseases of the Respiratory System (ERN-LUNG), Munich, Germany.
Juan Antonio Blasco-AmaroHealth Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
Matthias Griese *Hauner Children's Hospital, Ludwig Maximilians University, German Center for Lung Research (DZL), Munich, Germany.
Juan Darío Ortigoza-Escobar *Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Methods: We conducted a systematic review using PRISMA and PICO question formats. From January 2002 to July 2023, major biomedical databases and rare disease resources were searched. Genetically confirmed Results: Out of 4,569 studies, 38 met inclusion criteria, predominantly case reports and series. The study included 148 patients, revealing diverse respiratory phenotypes and treatments. Respiratory manifestations emerged at various ages, with neonatal respiratory distress, asthma, interstitial lung disease, and lung cancer observed. Nonsense mutations in Conclusion: This study highlights the complex respiratory manifestations of

Indexed as

asthmabenign hereditary choreabrain-thyroid-lung syndromeinterstitial lung diseaseneonatal respiratory distressNKX2-1recurrent respiratory infectionsystematic review

Identifiers

PMID40395234
PMCPMC12090872

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.