Beckwith-Wiedemann syndrome - Resultados de la búsqueda - Depósito Digital de Documentos de la UAB

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Artículos, Encontrados 2 registros Documentos de investigación, Encontrados 1 registros

Artículos	Encontrados 2 registros

15 p, 1.1 MB

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances / Pignata, Laura (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Cecere, Francesco (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Verma, Ankit (Institute of Genetics and Biophysics (IGB)) ; Hay Mele, Bruno (Università Degli Studi Di Napoli "Federico II") ; Monticelli, Maria (Università Degli Studi Di Napoli "Federico II") ; Acurzio, Basilia (Institute of Genetics and Biophysics (IGB)) ; Giaccari, Carlo (Institute of Genetics and Biophysics (IGB)) ; Sparago, Angela (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Hernandez Mora, José Ramon (Institut d'Investigació Biomèdica de Bellvitge) ; Monteagudo-Sánchez, Ana (Institut d'Investigació Biomèdica de Bellvitge) ; Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Pereda, Arrate (Araba University Hospital-Txagorritxu) ; Tenorio-Castano, Jair (ITHACA. European Reference Network) ; Palumbo, Orazio (Fondazione IRCCS "Casa Sollievo Della Sofferenza") ; Carella, Massimo (Fondazione IRCCS "Casa Sollievo Della Sofferenza") ; Prontera, Paolo (Medical Genetics Unit. University and Hospital of Perugia) ; Piscopo, Carmelo ("Antonio Cardarelli" Hospital) ; Accadia, Maria (Hospital "Cardinale G. Panico") ; Lapunzina, Pablo (ITHACA. European Reference Network) ; Cubellis, Maria Vittoria (Università Degli Studi Di Napoli "Federico II") ; Pérez de Nanclares, Guiomar (Araba University Hospital-Txagorritxu) ; Monk, David (University of East Anglia) ; Riccio, Andrea (Institute of Genetics and Biophysics (IGB)) ; Cerrato, Flavia (Università Degli Studi Della Campania "Luigi Vanvitelli") ; Universitat Autònoma de Barcelona
Background: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15. 5 and 20q13. [...]
2022 - DOI (Digital Object Identifier)

10.1186/s13148-022-01292-w
Clinical Epigenetics, Vol. 14 Núm. 1 (december 2022), p. 71

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14 p, 5.6 MB

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances / Monteagudo-Sánchez, Ana (Institut d'Investigació Biomèdica de Bellvitge) ; Hernandez Mora, J. R. (Institut d'Investigació Biomèdica de Bellvitge) ; Simon, C. (Department of Obstetrics and Gynecology. BIDMC. Harvard University) ; Burton, A. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ; Tenorio, Jair (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Lapunzina, Pablo (ITHACA. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability) ; Clark, S. (Epigenetics Programme. The Babraham Institute) ; Esteller, M. (Centro de Investigación Biomédica en Red de Cáncer) ; Kelsey, G. (University of Cambridge. Centre for Trophoblast Research) ; López-Siguero, J. P. (Hospital Regional Universitario Carlos Haya (Málaga)) ; De Nanclares, G. P. (Instituto de Investigación Sanitaria Bioaraba (Vitoria, País Basc)) ; Torres-Padilla, M. E. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ; Monk, D. (University of East Anglia. Biomedical Research Centre) ; Universitat Autònoma de Barcelona
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation that is resistant to embryonic reprogramming, resulting in parental origin-specific monoallelic gene expression. [...]
2020 - DOI (Digital Object Identifier)

10.1093/nar/gkaa837
Nucleic acids research, Vol. 48 Núm. 20 (18 2020) , p. 11394-11407

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Documentos de investigación	Encontrados 1 registros

1 p, 585.4 KB

Epigenetics of an imprinting disorder : Beckwith-Wiedemann syndrome / Castellet Farrús, Helena ; Roque Cordova, Alicia, dir. (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Universitat Autònoma de Barcelona. Facultat de Biociències
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder and an overgrowth syndrome. The majority of cases are due to epigenetic alterations hence the epigenetic regulation will be the focus of this work. [...]
2019-05-31
Grau en Bioquímica [814]

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