Evidence map›Paper›PMID 34831381›Full record

ReviewCells2021

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

Tomáš Zárybnický, Anne Heikkinen, Salla M Kangas, Marika Karikoski, Guillermo Antonio Martínez-Nieto, Miia H Salo, Johanna Uusimaa, Reetta Vuolteenaho, Reetta Hinttala, Petra Sipilä and 1 more

Open access · goldAbstract readReview
In one paragraph

Review in Cells, 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
0.7field-weighted citation impact, top 25% 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, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
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

11 authors at 4 institutions in 1 country.

Tomáš ZárybnickýStem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.ORCID 0000-0001-6402-9708
Anne HeikkinenBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.ORCID 0000-0001-9852-773X
Salla M KangasBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.ORCID 0000-0002-3644-5832
Marika KarikoskiResearch Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland.
Guillermo Antonio Martínez-NietoResearch Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland.
Miia H SaloBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.ORCID 0000-0003-2085-7880
Johanna UusimaaPEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland.
Reetta VuolteenahoBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.
Reetta HinttalaBiocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.ORCID 0000-0002-7642-4008
Petra SipiläResearch Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland.ORCID 0000-0001-8187-7143
Satu KuureStem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.ORCID 0000-0002-9076-0622
Oulu University Hospital · FIUniversity of Turku · FIUniversity of Helsinki · FIUniversity of Oulu · FI

Funding

Academy of Finland 311934Foundation for Pediatric Research RHJane and Aatos Erkko Foundation FinnDisMiceUniversity of Helsinki HiLIFE
6 · The paper itself

Abstract

The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.

Indexed as

Disease Models, AnimalAnimalsAnimals, Genetically ModifiedFinlandGenetic Predisposition to DiseaseMiceMutationRare DiseasesCRISPR/Cas9Finnish disease heritagegenome engineeringmonogenic diseasesmouse modelsrare diseases

Identifiers

PMID34831381
PMCPMC8621025
OpenAlexW3211651035

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.