ReviewMolecular and cellular probes2018
Modeling rare diseases with induced pluripotent stem cell technology.
Review in Molecular and cellular probes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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.
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.
Who cites it
28 citing papers in PubMed, 39 citations in OpenAlex.
- Application of aiAtlas Version 1.2 to Simulate Variant Gene Function Restoration and Rescue Thresholds in Rare Diseases: Validation Case Study.JMIR bioinformatics and biotechnology · 2026Article
- Long-term culture of skin biopsies: maintenance of fibroblast production and competency of reprogramming.FEBS open bio · 2026Article
- Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Unleashing the Power of Induced Pluripotent stem Cells in in vitro Modelling of Lesch-Nyhan Disease.Stem cell reviews and reports · 2025Review
- Editorial: Studying rare diseases using induced pluripotent stem cell (iPSC)-based model systems.Frontiers in cell and developmental biology · 2025Article
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- RNA Sequencing in Disease Diagnosis.Annual review of genomics and human genetics · 2024Review
- Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases.Nature genetics · 2024Article
- VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- A disease-specific iPS cell resource for studying rare and intractable diseases.Inflammation and regeneration · 2023Article
- Article
- A patient advocating for transparent science in rare disease research.Orphanet journal of rare diseases · 2023Article
- Induced pluripotent stem cells from domesticated ruminants and their potential for enhancing livestock production.Frontiers in veterinary science · 2023Review
- Highly Efficient CRISPR/Cas9-Mediated Genome Editing in Human Pluripotent Stem Cells.Current protocols · 2022Article
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Organoid factory: The recent role of the human induced pluripotent stem cells (hiPSCs) in precision medicine.Frontiers in cell and developmental biology · 2022Review
- Operationalizing the Use of Biofabricated Tissue Models as Preclinical Screening Platforms for Drug Discovery and Development.SLAS discovery : advancing life sciences R & D · 2021Article
- Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report.Journal of developmental biology · 2021Article
- Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.Cell reports. Medicine · 2021Article
- Recent Advances of COVID-19 Modeling Based on Regenerative Medicine.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Rare diseases, in totality, affect a significant proportion of the population and represent an unmet medical need facing the scientific community. However, the treatment of individuals affected by rare diseases is hampered by poorly understood mechanisms preventing the development of viable therapeutics. The discovery and application of cellular reprogramming to create novel induced pluripotent stem cell models of rare diseases has revolutionized the rare disease community. Through developmental and functional analysis of differentiated cell types, these stem cell models carrying patient-specific mutations have become an invaluable tool for rare disease research. In this review article, we discuss the reprogramming of samples from individuals affected with rare diseases to induced pluripotent stem cells, current and future applications for this technology, and how integration of genome editing to rare disease research will help to improve our understanding of disease pathogenesis and lead to patient therapies.
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What OpenQuestion holds
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.