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Common mechanistic pathways in rare congenital syndromes with primary microcephaly

dc.contributor.authorJorge, Xavier
dc.contributor.authorMilagre, Ines
dc.contributor.authorFerreira, Anita
dc.contributor.authorCalado, Sofia
dc.contributor.authorOliveira, Raquel
dc.contributor.authorCarvalhal, Sara
dc.date.accessioned2025-04-21T09:24:09Z
dc.date.available2025-04-21T09:24:09Z
dc.date.issued2025
dc.description.abstractPrimary microcephaly is an often-seen phenotype in several rare congenital syndromes. It is characterised by a smaller brain size at birth compared to the norm. The causes of this malformation are not fully understood, but genetic testing suggests a connection with defective genes involved in mitotic regulation and proteins related to DNA repair and replication pathways. Cohesinopathies represent a group of rare syndromes, where several subtypes exhibit spontaneous railroad chromosomes and primary microcephaly. This includes Roberts Syndrome, Warsaw Breakage Syndrome and a recently characterised syndrome caused by mutations in the BUB1 gene. Currently, we are examining fibroblast cells from patients with these syndromes to identify common mechanistic pathways. In this context, we have identified a new promising candidate: Topoisomerase II alpha, a protein responsible for resolving of the DNA catenation both in the DNA replication and mitosis. Defective localisation of Topoisomerase II alpha may contribute to the observed mitotic defects in these cells. We are currently exploring the impact of these defects on brain development using reprogramming techniques to assess proper neuronal differentiation.eng
dc.identifier.issn0025-7974
dc.identifier.urihttp://hdl.handle.net/10400.1/27056
dc.language.isoeng
dc.peerreviewedyes
dc.publisherLippincott, Williams & Wilkins
dc.relation.ispartofseries4
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleCommon mechanistic pathways in rare congenital syndromes with primary microcephalyeng
dc.typeconference paper
dspace.entity.typePublication
oaire.citation.endPage9
oaire.citation.issue4
oaire.citation.startPage8
oaire.citation.titleMedicine
oaire.citation.volume104
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameJorge
person.familyNameFerreira
person.familyNameCalado
person.familyNameCarvalhal
person.givenNameXavier
person.givenNameAnita
person.givenNameSofia
person.givenNameSara
person.identifier.ciencia-id7C1A-91BA-B6A0
person.identifier.ciencia-idC511-8A34-30BE
person.identifier.orcid0000-0002-1756-6735
person.identifier.orcid0009-0002-2285-988X
person.identifier.orcid0000-0001-5509-4145
person.identifier.orcid0000-0002-6004-3286
person.identifier.ridK-2202-2016
person.identifier.scopus-author-id56426215600
person.identifier.scopus-author-id56888576000
relation.isAuthorOfPublicationdb48c68a-54ad-4456-a01f-adba94ffdadf
relation.isAuthorOfPublicatione4bf7c1d-7ed5-4efc-8589-f21aef74728a
relation.isAuthorOfPublication950f7df3-f549-497f-9ace-8edd58a83e08
relation.isAuthorOfPublication5b4befe5-cdb3-408a-839e-8c5adc64a162
relation.isAuthorOfPublication.latestForDiscoverydb48c68a-54ad-4456-a01f-adba94ffdadf

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