ReviewCurrent topics in developmental biology2015
Mouse Models of Rare Craniofacial Disorders.
Review in Current topics in developmental biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Ribosomal modifications are associated with mesenchymal fate selection in the neural crest lineage.Nature communications · 2026Article
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- Nkx2.7 is a conserved regulator of craniofacial development.Nature communications · 2025Article
- NBS1 facilitates preribosomal RNA biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- Identification and characterization of intermediate states in mammalian neural crest cell epithelial to mesenchymal transition and delamination.bioRxiv : the preprint server for biology · 2024Article
- Transfer of nuclear and ribosomal material from Sox10-lineage cells to neurons in the mouse brain.The Journal of experimental medicine · 2023Article
- The Effect of Two-Generation Exposure to a High-Fat Diet on Craniofacial Morphology in Rats.Journal of clinical medicine · 2023Article
- Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Nucleolin loss of function leads to aberrant Fibroblast Growth Factor signaling and craniofacial anomalies.Development (Cambridge, England) · 2022Article
- Article
- Anatomical comparison across heads, fore- and hindlimbs in mammals using network models.Journal of anatomy · 2021Article
- Diabetes, Oxidative Stress, and DNA Damage Modulate Cranial Neural Crest Cell Development and the Phenotype Variability of Craniofacial Disorders.Frontiers in cell and developmental biology · 2021Review
- Ift88 is involved in mandibular development.Journal of anatomy · 2020Article
- What Do Animal Models Teach Us About Congenital Craniofacial Defects?Advances in experimental medicine and biology · 2020Review
- Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions.eLife · 2018Article
- FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.The Journal of biological chemistry · 2018Article
- The primary cilia: Orchestrating cranial neural crest cell development.Differentiation; research in biological diversityReview
Corrections and comments
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2 authors.
Funding
Abstract
A rare disease is defined as a condition that affects less than 1 in 2000 individuals. Currently more than 7000 rare diseases have been documented, and most are thought to be of genetic origin. Rare diseases primarily affect children, and congenital craniofacial syndromes and disorders constitute a significant proportion of rare diseases, with over 700 having been described to date. Modeling craniofacial disorders in animal models has been instrumental in uncovering the etiology and pathogenesis of numerous conditions and in some cases has even led to potential therapeutic avenues for their prevention. In this chapter, we focus primarily on two general classes of rare disorders, ribosomopathies and ciliopathies, and the surprising finding that the disruption of fundamental, global processes can result in tissue-specific craniofacial defects. In addition, we discuss recent advances in understanding the pathogenesis of an extremely rare and specific craniofacial condition known as syngnathia, based on the first mouse models for this condition. Approximately 1% of all babies are born with a minor or major developmental anomaly, and individuals suffering from rare diseases deserve the same quality of treatment and care and attention to their disease as other patients.
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