ArticleBMC medical genomics2014
Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics.
Article in BMC medical genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Chiari malformation type 0: methodological concerns regarding the null structural finding.Acta neurochirurgica · 2026Article
- MRI-morphometric characterization of Chiari malformation types 0 and 1 with syringomyelia: implications for diagnosis and pathogenesis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Observational
- Article
- The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024Review
- Evaluation and Treatment of Patients with Small Posterior Cranial Fossa and Chiari Malformation, Types 0 and 1.Advances and technical standards in neurosurgery · 2024Article
- The Small Posterior Cranial Fossa Syndrome and Chiari Malformation Type 0.Journal of clinical medicine · 2022Review
- Chiari I malformation in patients with RASopathies.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.PloS one · 2021Article
- A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant.The Pan African medical journal · 2021Article
- Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation.Pediatric neurology · 2020Article
- Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases.Frontiers in molecular neuroscience · 2020Article
- Chiari I malformation in defined genetic syndromes in children: are there common pathways?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- Epidemiology of Symptomatic Chiari Malformation in Tatarstan: Regional and Ethnic Differences in Prevalence.Neurosurgery · 2019Article
- Diagnostic accuracy of classical radiological measurements for basilar invagination of type B at MRI.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2019Article
- Morphogenesis of Canine Chiari Malformation and Secondary Syringomyelia: Disorders of Cerebrospinal Fluid Circulation.Frontiers in veterinary science · 2018Review
- Digenic mutations of humanHuman genome variation · 2016Article
- Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.BMC genomics · 2015Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundChiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar herniation, it is hypothesized that this heterogeneous disorder is due to multiple genetic and environmental factors. The purpose of the present study was to gain a better understanding of what factors contribute to this heterogeneity by using an unsupervised statistical approach to define disease subtypes within a case-only pediatric population.
methodsA collection of forty-four pediatric CMI patients were ascertained to identify disease subtypes using whole genome expression profiles generated from patient blood and dura mater tissue samples, and radiological data consisting of posterior fossa (PF) morphometrics. Sparse k-means clustering and an extension to accommodate multiple data sources were used to cluster patients into more homogeneous groups using biological and radiological data both individually and collectively.
resultsAll clustering analyses resulted in the significant identification of patient classes, with the pure biological classes derived from patient blood and dura mater samples demonstrating the strongest evidence. Those patient classes were further characterized by identifying enriched biological pathways, as well as correlated cranial base morphological and clinical traits.
conclusionsOur results implicate several strong biological candidates warranting further investigation from the dura expression analysis and also identified a blood gene expression profile corresponding to a global down-regulation in protein synthesis.
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