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dc.contributor.author
Cornelis Helderman, Noah
dc.contributor.author
Terlouw, Diantha
dc.contributor.author
Bonjoch, Laia
dc.contributor.author
Golubicki, Mariano
dc.contributor.author
Antelo, Marina
dc.contributor.author
Morreau, Hans
dc.contributor.author
van Wezel, Tom
dc.contributor.author
Castellvi Bell, Sergi
dc.contributor.author
Goldberg, Yael
dc.contributor.author
Nielsen, Maartje
dc.date.available
2024-06-06T11:13:26Z
dc.date.issued
2023-06
dc.identifier.citation
Cornelis Helderman, Noah; Terlouw, Diantha; Bonjoch, Laia; Golubicki, Mariano; Antelo, Marina; et al.; Molecular functions of MCM8 and MCM9 and their associated pathologies; Elsevier; iScience; 26; 6; 6-2023; 1-21
dc.identifier.issn
2589-0042
dc.identifier.uri
http://hdl.handle.net/11336/237255
dc.description.abstract
Minichromosome Maintenance 8 Homologous Recombination Repair Factor (MCM8) and Minichromosome Maintenance 9 Homologous Recombination Repair Factor (MCM9) are recently discovered minichromosome maintenance proteins and are implicated in multiple DNA-related processes and pathologies, including DNA replication (initiation), meiosis, homologous recombination and mismatch repair. Consistent with these molecular functions, variants of MCM8/MCM9 may predispose carriers to disorders such as infertility and cancer and should therefore be included in relevant diagnostic testing. In this overview of the (patho)physiological functions of MCM8 and MCM9 and the phenotype of MCM8/MCM9 variant carriers, we explore the potential clinical implications of MCM8/MCM9 variant carriership and highlight important future directions of MCM8 and MCM9 research. With this review, we hope to contribute to better MCM8/MCM9 variant carrier management and the poten- tial utilization of MCM8 and MCM9 in other facets of scientific research and medical care.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.subject
MCM8
dc.subject
MCM9
dc.subject
CANCER
dc.subject
MOLECULAR
dc.subject.classification
Genética Humana
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Medicina Básica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Molecular functions of MCM8 and MCM9 and their associated pathologies
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2024-06-06T10:44:19Z
dc.journal.volume
26
dc.journal.number
6
dc.journal.pagination
1-21
dc.journal.pais
Países Bajos
dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Cornelis Helderman, Noah. Leiden University; Países Bajos
dc.description.fil
Fil: Terlouw, Diantha. Leiden University; Países Bajos
dc.description.fil
Fil: Bonjoch, Laia. Universidad de Barcelona; España
dc.description.fil
Fil: Golubicki, Mariano. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina
dc.description.fil
Fil: Antelo, Marina. Gobierno de la Ciudad de Buenos Aires. Hospital de Gastroenterología "Dr. Carlos B. Udaondo"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Morreau, Hans. Leiden University; Países Bajos
dc.description.fil
Fil: van Wezel, Tom. Leiden University; Países Bajos
dc.description.fil
Fil: Castellvi Bell, Sergi. Universidad de Barcelona; España
dc.description.fil
Fil: Goldberg, Yael. Rabin Medical Center Beilinson Hospital; Israel
dc.description.fil
Fil: Nielsen, Maartje. Leiden University; Países Bajos
dc.journal.title
iScience
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2589004223008143?via%3Dihub
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.isci.2023.106737
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