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Severe cerebellar m...
Severe cerebellar malformations in mutant mice demonstrate a role for PDGF-C/PDGFR alpha signalling in cerebellar development
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- Gillnäs, Sara (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Rudbecklaboratoriet
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- Gallini, Radiosa (författare)
- Uppsala universitet,Molekylära verktyg och funktionsgenomik,Rudbecklaboratoriet
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- He, Liqun (författare)
- Uppsala universitet,Vaskulärbiologi,Rudbecklaboratoriet
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- Betsholtz, Christer (författare)
- Uppsala universitet,Vaskulärbiologi,Rudbecklaboratoriet
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- Andrae, Johanna (författare)
- Uppsala universitet,Vaskulärbiologi,Rudbecklaboratoriet
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(creator_code:org_t)
- 2022-08-09
- 2022
- Engelska.
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Ingår i: BIOLOGY OPEN. - : COMPANY BIOLOGISTS LTD. - 2046-6390. ; 11:8
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Formation of the mouse cerebellum is initiated in the embryo and continues for a few weeks after birth. Double-mutant mice lacking platelet-derived growth factor C (PDGF-C) and that are heterozygous for platelet-derived growth factor receptor alpha (Pdgfc(-/-); Pdgfra(GFP/+)) develop cerebellar hypoplasia and malformation with loss of cerebellar lobes in the posterior vermis. This phenotype is similar to those observed in Foxc1 mutant mice and in a human neuroimaging pattern called Dandy Walker malformation. Pdgfc-Pdgfra mutant mice also display ependymal denudation in the fourth ventricle and gene expression changes in cerebellar meninges, which coincide with the first visible signs of cerebellar malformation. Here, we show that PDGF-C/PDGFR alpha signalling is a critical component in the network of molecular and cellular interactions that take place between the developing meninges and neural tissues, and which are required to build a fully functioning cerebellum.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- PDGF-C
- PDGFR-alfa
- Cerebellum
- Malformation
- Dandy Walker malformation
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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