The DOI matches its Crossref record; 77 of the 77 references it cites were found in a registry or an index.
The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis
Abstract
Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. The malformation is characterized by a combination of abnormalities, which affect the temporal lobe most severely. Salient features include temporal lobe enlargement, deep transverse sulci across the inferomedial temporal surface, and hippocampal dysplasia. TD is caused by mutations of the fibroblast growth factor (FGF) receptor 3 gene (FGFR3), which result in constitutive activation of the FGFR3 tyrosine kinase. However, the link between constitutive FGFR3 activation and malformation of the cortex has been difficult to elucidate. In this review, I describe the neuropathological features of human TD, especially the cortical malformation, ascertained by examination of 45 published cases and 5 new cases, spanning gestational ages from 18 to 42 weeks. The cortical malformation is interpreted with regard to developmental mechanisms, and observations from a mouse model of TD. The evidence suggests that FGFR3 activation perturbs three key processes in cortical development: areal patterning, progenitor proliferation, and apoptosis. Defective patterning accounts for hippocampal dysplasia, while increased proliferation and decreased apoptosis account for temporal lobe hyperplasia and premature development of aberrant sulci. Disturbances in these processes may also contribute to other cortical malformations.
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“For example, FGFR3, which is known to cause defects in human temporal cortex when mutated50, shows significant caudal enrichment in all germinal layers in both species (Fig. 5d–e).”
From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [50]
In the citing paper
“For example, FGFR3, which is known to cause defects in human temporal cortex when mutated50, shows significant caudal enrichment in all germinal layers in both species (Fig. 5d–e).”
From Transcriptional landscape of the prenatal human brain (2014) · cites this paper as [50]
Citations
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Transcriptional landscape of the prenatal human brain
Miller, J. A., Ding, S.-L., Sunkin, S. M., Smith, K. A., Ng, L., Szafer, A., Ebbert, A., Riley, Z. L., Royall, J. J., Aiona, K., et al. (2014) · Nature · doi:10.1038/nature13185 · Cited by 1,325
Self-citationA developmental and genetic classification for malformations of cortical development: update 2012
Barkovich, A. J., Guerrini, R., Kuzniecky, R., Jackson, G. D., & Dobyns, W. B. (2012) · Brain · doi:10.1093/brain/aws019 · Cited by 1,146
Malformations of cortical development: clinical features and genetic causes
Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70040-7 · Cited by 513
Growth and folding of the mammalian cerebral cortex: from molecules to malformations
Sun, T., & Hevner, R. F. (2014) · Nature reviews. Neuroscience · doi:10.1038/nrn3707 · Cited by 489
Self-citationInfantile hydrocephalus: A review of epidemiology, classification and causes
Tully, H. M., & Dobyns, W. B. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.06.002 · Cited by 425
Metadata
- Authors
- Hevner, R. F.
- Affiliations
- University of Washington (US)
- Corresponding author
- Hevner, Robert F.
- ORCID
- Hevner, Robert F.
- Venue
- Acta Neuropathologica
- Published
- 2005-08-25
- Volume
- 110
- Issue
- 3
- Pages
- 208-221
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2131483842
- Cited by
- 106
- References
- 77
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 5 · 2023: 3 · 2022: 4 · 2021: 5 · 2020: 4 · 2019: 6 · 2018: 9 · 2017: 11 · 2016: 3 · 2015: 8 · 2014: 10 · 2013: 5 · 2012: 9
- FWCI
- 2.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- thanatophoric dysplasia, cerebral cortex malformation, FGFR3 mutation, neural progenitor proliferation, apoptosis, cortical development
- MeSH terms
- Animals, Cell Differentiation, Cerebral Cortex, Humans, Mutation, Nervous System Malformations, Thanatophoric Dysplasia, Apoptosis, Body Patterning, Cell Proliferation, Receptor, Fibroblast Growth Factor, Type 3
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