The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Mechanisms and pathways of growth failure in primordial dwarfism
Open accessAbstract
The greatest difference between species is size; however, the developmental mechanisms determining organism growth remain poorly understood. Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordial dwarfism I [MOPD] types I and II, and Meier-Gorlin syndrome). Ten genes have now been identified for microcephalic primordial dwarfism, encoding proteins involved in fundamental cellular processes including genome replication (ORC1 [origin recognition complex 1], ORC4, ORC6, CDT1, and CDC6), DNA damage response (ATR [ataxia-telangiectasia and Rad3-related]), mRNA splicing (U4atac), and centrosome function (CEP152, PCNT, and CPAP). Here, we review the cellular and developmental mechanisms underlying the pathogenesis of these conditions and address whether further study of these genes could provide novel insight into the physiological regulation of organism growth.
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“This would reduce total cell number, resulting in the hypo-cellularitythatunderliesmicrocephalicdwarfism ( 21 ).”
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Metadata
- Authors
- Klingseisen, A., & Jackson, A. P.
- Venue
- Genes & Development
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2011-10-01
- Volume
- 25
- Issue
- 19
- Pages
- 2011-2024
- ISSN
- 0890-9369 (ISSN-L)
- 1549-5477
- OpenAlex
- W2087660608
- Cited by
- 215
- References
- 8
- Type
- posted content
- Language
- en
- Open access
- diamond
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