Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Cristina Hernando-Davalillo"'
Autor:
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13699 (2023)
The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The PPP2R1A gene encodes a
Externí odkaz:
https://doaj.org/article/1b68797967244e898233e77e9a3e3098
Autor:
Xinyu Cao, Madryn Lake, Gerd Van der Hoeven, Zander Claes, Javier del Pino García, Sarah Lemaire, Elora C. Greiner, Spyridoula Karamanou, Aleyde Van Eynde, Arminja N. Kettenbach, Daniel Natera de Benito, Laura Carrera García, Cristina Hernando Davalillo, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Mathieu Bollen
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract SDS22 forms an inactive complex with nascent protein phosphatase PP1 and Inhibitor-3. SDS22:PP1:Inhibitor-3 is a substrate for the ATPase p97/VCP, which liberates PP1 for binding to canonical regulatory subunits. The exact role of SDS22 in P
Externí odkaz:
https://doaj.org/article/c4523dabbd054badb120b71954117509
Autor:
Luca Soliani, Adrián Alcalá San Martín, Sol Balsells, Cristina Hernando‐Davalillo, Juan Darío Ortigoza‐Escobar
Publikováno v:
Movement Disorders Clinical Practice. 10:547-557
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38d63fea6c5ec0efdbc4b6a79dced596
https://doi.org/10.1002/mdc3.13711
https://doi.org/10.1002/mdc3.13711
Autor:
Cristina Hernando‐Davalillo, Adrián Alcalá San Martín, Mar Borregan Prats, Juan Darío Ortigoza‐Escobar
Publikováno v:
Clinical Genetics. 102:434-437
Genetic studies have established a connection between FAT1 (FAT atypical cadherin 1) deletion and variants and autism spectrum disorder (ASD). Here, we describe a 7-year-old girl who sought a neurology consultation in order to be evaluated for ASD an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb1a444378ba768ce40872b3c3ac527e
https://doi.org/10.1111/cge.14194
https://doi.org/10.1111/cge.14194
Autor:
Mariona Cubells, María José Calvo, Juan Ortiz, Juan Darío Ortigoza-Escobar, Francesc Palau, Cristina Hernando-Davalillo, Adrián Alcalá, Janet Hoenicka, Jordi Pijuan
Publikováno v:
Autism Research. 14:1088-1100
Autism spectrum disorder (ASD) is a neurodevelopmental disability with high heritability yet the genetic etiology remains elusive. Therefore, it is necessary to elucidate new genotype-phenotype relationships for ASD to improve both the etiological kn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b30741004449b2a14608bedddfe246e
https://doi.org/10.1002/aur.2502
https://doi.org/10.1002/aur.2502
Autor:
Nathalie Seta, Mercedes Serrano, Claudia Castiglioni, Cristina Hernando-Davalillo, Thierry Dupré, Arnaud Wiedemann, Raquel Montero, Arnaud Bruneel, Fanny Cortés, François Feillet, Christine Barnerias, Jordi Muchart, Sandrine Vuillaumier-Barrot
Publikováno v:
Human Mutation. 42:142-149
Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon-associated protein complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N-linked glycosylation. Pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09ceee7fcf5e5e9196208d6cc618a512
https://doi.org/10.1002/humu.24151
https://doi.org/10.1002/humu.24151
Autor:
Lluís Armengol, Carolina Baquero-Montoya, Ethel Queralt, Paulino Gómez-Puertas, Inés Bueno-Martinez, María-Concepción Gil-Rodríguez, Angelo Selicorni, Juan Pié, Cesar-Horacio Casale, Olaya Villa, Alicia Vicente-Gabas, María-Luisa Bernal, María Hernández-Marcos, Feliciano J. Ramos, Cristina Hernando-Davalillo, María-Esperanza Teresa-Rodrigo, Beatriz Puisac, Gloria Bueno-Lozano
Publikováno v:
European journal of medical genetics. 57(9)
Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::361a7a04b5a92a462f2b56357d8a5ab2
https://pubmed.ncbi.nlm.nih.gov/24874887
https://pubmed.ncbi.nlm.nih.gov/24874887