Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Stefania Menga"'
Autor:
Matthew A. Deardorff, Anna Gimigliano, Linda Mannini, Ian D. Krantz, Antonio Musio, Michele Puglia, Laura Bianchi, Stefania Menga, Luca Bini
Publikováno v:
Journal of Proteome Research. 11:6111-6123
Mutations in cohesin genes have been identified in Cornelia de Lange syndrome (CdLS), but its etiopathogenetic mechanisms are still poorly understood. To define biochemical pathways that are affected in CdLS, we analyzed the proteomic profile of CdLS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52faf70a8ae992a9a28e2bb6cc70171f
https://doi.org/10.1021/pr300760p
https://doi.org/10.1021/pr300760p
Autor:
Antonio Musio, Maria Teresa Bassi, Linda Mannini, Silvia Zanotti, Alessandra Tonelli, Cinzia Magnani, Stefania Menga
Publikováno v:
American Journal of Medical Genetics Part A. :224-228
Cornelia de Lange syndrome is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, limb anomalies, and other malformations. Mutations in core cohesin genes SMC1A and SMC3, and the cohesin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbba89a0ebc0f4d13cc38855299eead5
https://doi.org/10.1002/ajmg.a.34384
https://doi.org/10.1002/ajmg.a.34384
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (6), pp.623. ⟨10.1002/humu.21252⟩
Human mutation 31 (2010): 623–630. doi:10.1002/humu.21252
info:cnr-pdr/source/autori:Mannini L, Menga S, Musio A/titolo:The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer/doi:10.1002%2Fhumu.21252/rivista:Human mutation/anno:2010/pagina_da:623/pagina_a:630/intervallo_pagine:623–630/volume:31
Human Mutation, Wiley, 2010, 31 (6), pp.623. ⟨10.1002/humu.21252⟩
Human mutation 31 (2010): 623–630. doi:10.1002/humu.21252
info:cnr-pdr/source/autori:Mannini L, Menga S, Musio A/titolo:The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer/doi:10.1002%2Fhumu.21252/rivista:Human mutation/anno:2010/pagina_da:623/pagina_a:630/intervallo_pagine:623–630/volume:31
Cohesin is responsible for sister chromatid cohesion, ensuring the correct chromosome segregation. Beyond this role, cohesin and regulatory cohesin genes seem to play a role in preserving genome stability and gene transcription regulation. DNA damage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2f8c649258f472826eb7c7d8d3ce78
https://hal.archives-ouvertes.fr/hal-00552379/document
https://hal.archives-ouvertes.fr/hal-00552379/document
