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Your search keyword '"Cuesta-Herraiz, Laura"' showing total 5 results
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5 results on '"Cuesta-Herraiz, Laura"'

1. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

Author

Juliá-Palacios, Natalia, primary, Olivella, Mireia, additional, Sigatullina Bondarenko, Mariya, additional, Ibáñez-Micó, Salvador, additional, Muñoz-Cabello, Beatriz, additional, Alonso-Luengo, Olga, additional, Soto-Insuga, Víctor, additional, García-Navas, Deyanira, additional, Cuesta-Herraiz, Laura, additional, Andreo-Lillo, Patricia, additional, Aguilera-Albesa, Sergio, additional, Hedrera-Fernández, Antonio, additional, González Alguacil, Elena, additional, Sánchez-Carpintero, Rocío, additional, Martín del Valle, Fernando, additional, Jiménez González, Erika, additional, Cean Cabrera, Lourdes, additional, Medina-Rivera, Ines, additional, Perez-Ordoñez, Marta, additional, Colomé, Roser, additional, Lopez, Laura, additional, Engracia Cazorla, María, additional, Fornaguera, Montserrat, additional, Ormazabal, Aida, additional, Alonso-Colmenero, Itziar, additional, Illescas, Katia Sofía, additional, Balsells-Mejía, Sol, additional, Mari-Vico, Rosanna, additional, Duffo Viñas, Maria, additional, Cappuccio, Gerarda, additional, Terrone, Gaetano, additional, Romano, Roberta, additional, Manti, Filippo, additional, Mastrangelo, Mario, additional, Alfonsi, Chiara, additional, de Siqueira Barros, Bruna, additional, Nizon, Mathilde, additional, Gjerulfsen, Cathrine Elisabeth, additional, L Muro, Valeria, additional, Karall, Daniela, additional, Zeiner, Fiona, additional, Masnada, Silvia, additional, Peterlongo, Irene, additional, Oyarzábal, Alfonso, additional, Santos-Gómez, Ana, additional, Altafaj, Xavier, additional, and García-Cazorla, Ángeles, additional

Published
2024
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2. Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Author

Awamleh, Zain, primary, Choufani, Sanaa, additional, Wu, Wendy, additional, Rots, Dmitrijs, additional, Dingemans, Alexander J. M., additional, Nadif Kasri, Nael, additional, Boronat, Susana, additional, Ibañez-Mico, Salvador, additional, Cuesta Herraiz, Laura, additional, Ferrer, Irene, additional, Martínez Carrascal, Antonio, additional, Pérez-Jurado, Luis A., additional, Aznar Lain, Gemma, additional, Ortigoza-Escobar, Juan Dario, additional, de Vries, Bert B. A., additional, Koolen, David A., additional, and Weksberg, Rosanna, additional

Published
2024
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3. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1variants and comparison to fibroblast cells

Author

Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A., Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B. A., Koolen, David A., and Weksberg, Rosanna

Abstract

Pathogenic variants in KANSL1and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic conditions caused by pathogenic variants in epigenetic regulatory genes have identifiable patterns of DNA methylation (DNAm) change: DNAm signatures or episignatures. Given the role of KANSL1 in histone acetylation, we tested whether variants underlying KdVS are associated with a DNAm signature. We profiled whole-blood DNAm for 13 individuals with KANSL1variants, four individuals with 17q21.31 microdeletions, and 21 typically developing individuals, using Illumina’s Infinium EPIC array. In this study, we identified a robust DNAm signature of 456 significant CpG sites in 8 individuals with KdVS, a pattern independently validated in an additional 7 individuals with KdVS. We also demonstrate the diagnostic utility of the signature and classify two KANSL1VUS as well as four variants in individuals with atypical clinical presentation. Lastly, we investigated tissue-specific DNAm changes in fibroblast cells from individuals with KdVS. Collectively, our findings contribute to the understanding of the epigenetic landscape related to KdVS and aid in the diagnosis and classification of variants in this structurally complex genomic region.

Published
2024
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4. Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1variants and comparison to fibroblast cells

Author

Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J. M., Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A., Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B. A., Koolen, David A., and Weksberg, Rosanna

Published
2024
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5. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.

Author

Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, and Weksberg R

Subjects
Humans, Chromosomes, Human, Pair 17, DNA Methylation, Genes, Regulator, Abnormalities, Multiple genetics, Chromosome Deletion, Intellectual Disability genetics, Intellectual Disability diagnosis
Abstract

Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic conditions caused by pathogenic variants in epigenetic regulatory genes have identifiable patterns of DNA methylation (DNAm) change: DNAm signatures or episignatures. Given the role of KANSL1 in histone acetylation, we tested whether variants underlying KdVS are associated with a DNAm signature. We profiled whole-blood DNAm for 13 individuals with KANSL1 variants, four individuals with 17q21.31 microdeletions, and 21 typically developing individuals, using Illumina's Infinium EPIC array. In this study, we identified a robust DNAm signature of 456 significant CpG sites in 8 individuals with KdVS, a pattern independently validated in an additional 7 individuals with KdVS. We also demonstrate the diagnostic utility of the signature and classify two KANSL1 VUS as well as four variants in individuals with atypical clinical presentation. Lastly, we investigated tissue-specific DNAm changes in fibroblast cells from individuals with KdVS. Collectively, our findings contribute to the understanding of the epigenetic landscape related to KdVS and aid in the diagnosis and classification of variants in this structurally complex genomic region., (© 2024. The Author(s).)

Published
2024
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