ArticleDisease models & mechanisms2014
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome.
Article in Disease models & mechanisms, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- A Systematic Review of Oropharyngeal Dysphagia Models in Rodents.International journal of environmental research and public health · 2021Pooled it
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- SMΝΔ7 mice show breathing and airflow defects with significant pathology of respiratory and oral tract tissues.Frontiers in cellular neuroscience · 2026Article
- The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.Neurobiology of disease · 2025Article
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- Polygenicity in a box: Copy number variants, neural circuit development, and neurodevelopmental disorders.Current opinion in neurobiology · 2024Review
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- MicroRNAs in maxillofacial bone modeling and remodeling: implications for malocclusion development and orthodontic treatment.Frontiers in cell and developmental biology · 2024Review
- Out of Line or Altered States? Neural Progenitors as a Target in a Polygenic Neurodevelopmental Disorder.Developmental neuroscience · 2024Review
- Ranbp1 modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome.Human molecular genetics · 2023Article
- Genetically programmed retinoic acid deficiency during gastrulation phenocopies most known developmental defects due to acute prenatal alcohol exposure in FASD.Frontiers in cell and developmental biology · 2023Article
- Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome.Disease models & mechanisms · 2022Article
- Comparison of Postoperative, In-Hospital Outcomes After Complete Repair of Tetralogy of Fallot Between 22q11.2 Deletion Syndrome and Trisomy 21.Pediatric cardiology · 2022Article
- Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants.Frontiers in cell and developmental biology · 2022Article
- Intrinsic positional memory guides target-specific axon regeneration in the zebrafish vagus nerve.Development (Cambridge, England) · 2021Article
- Aberrant early growth of individual trigeminal sensory and motor axons in a series of mouse genetic models of 22q11.2 deletion syndrome.Human molecular genetics · 2020Article
- Variations in maternal vitamin A intake modifies phenotypes in a mouse model of 22q11.2 deletion syndrome.Birth defects research · 2020Article
- Suckling, Feeding, and Swallowing: Behaviors, Circuits, and Targets for Neurodevelopmental Pathology.Annual review of neuroscience · 2020Review
- Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.Human molecular genetics · 2020Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia--debilitating feeding, swallowing and nutrition difficulties from birth onward--within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and have several signs of respiratory infections due to food aspiration. Most 22q11 genes are expressed in anlagen of craniofacial and brainstem regions critical for feeding and swallowing, and diminished expression in LgDel embryos apparently compromises development of these regions. Palate and jaw anomalies indicate divergent oro-facial morphogenesis. Altered expression and patterning of hindbrain transcriptional regulators, especially those related to retinoic acid (RA) signaling, prefigures these disruptions. Subsequently, gene expression, axon growth and sensory ganglion formation in the trigeminal (V), glossopharyngeal (IX) or vagus (X) cranial nerves (CNs) that innervate targets essential for feeding, swallowing and digestion are disrupted. Posterior CN IX and X ganglia anomalies primarily reflect diminished dosage of the 22q11DS candidate gene Tbx1. Genetic modification of RA signaling in LgDel embryos rescues the anterior CN V phenotype and returns expression levels or pattern of RA-sensitive genes to those in wild-type embryos. Thus, diminished 22q11 gene dosage, including but not limited to Tbx1, disrupts oro-facial and CN development by modifying RA-modulated anterior-posterior hindbrain differentiation. These disruptions likely contribute to dysphagia in infants and young children with 22q11DS.
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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.