ArticleFrontiers in genetics2020
The Value of Mouse Models of Rare Diseases: A Spanish Experience.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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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.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- Navigating the orphan medicinal product designation: Evidence requirements for gene therapies in Europe.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.Pharmaceutics · 2025Review
- A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction.Human molecular genetics · 2024Article
- Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Rarer dementias, limited options, and unaddressed needs.International psychogeriatrics · 2024Article
- A review of fatty acid oxidation disorder mouse models.Molecular genetics and metabolism · 2024Review
- Using the LeiCNS-PK3.0 Physiologically-Based Pharmacokinetic Model to Predict Brain Extracellular Fluid Pharmacokinetics in Mice.Pharmaceutical research · 2023Article
- INFRAFRONTIER: mouse model resources for modelling human diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Knockout mice are an important tool for human monogenic heart disease studies.Disease models & mechanisms · 2023Article
- Transcending Dimensions in Apicomplexan Research: from Two-Dimensional to Three-DimensionalMicrobiology and molecular biology reviews : MMBR · 2022Review
- The mouse resource at National Resource Center for Mutant Mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Animal models are invaluable for biomedical research, especially in the context of rare diseases, which have a very low prevalence and are often complex. Concretely mouse models provide key information on rare disease mechanisms and therapeutic strategies that cannot be obtained by using only alternative methods, and greatly contribute to accelerate the development of new therapeutic options for rare diseases. Despite this, the use of experimental animals remains controversial. The combination of respectful management, ethical laws and transparency regarding animal experimentation contributes to improve society's opinion about biomedical research and positively impacts on research quality, which eventually also benefits patients. Here we present examples of current advances in preclinical research in rare diseases using mouse models, together with our perspective on future directions and challenges.
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Registered trials
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.