Áreas de trabajo
Breve descripción, por medio de palabras clave, de las líneas de
investigación actuales:
Alteraciones del Sistema Nervioso Entérico. Enfermedad
de Hirschsprung como modelo de enfermedad poligénica, y Displasia
Neuronal Intestinal
Enfermedad de Hirschsprung; proto-oncogén RET; factores de
susceptibilidad; modelo complejo de enfermedad; "haplotipo HSCR";
loci de susceptibilidad, displasia neuronal intestinal.
Cáncer de Tiroides
Neoplasia endocrina múltiple tipo 2, cáncer medular de tiroides,
cáncer papilar de tiroides, tumores esporádicos; mutaciones
germinales en RET; factores modificadores; caracterización
molecular y funcional.
Retraso Mental de Origen Genético
Retraso mental, anomalías cromosómicas crípticas, MLPA,
cariotipado molecular, microarrays, SNPs.
Atrofia Muscular Espinal
AME; SMN1; SMN2; correlación genotipo-fenotipo
Luzon-Toro, B; Villalba-Benito, L; Torroglosa, A; Fernandez, RM; Antinolo, G; Borrego, S
What is new about the genetic background of Hirschsprung disease?
CLINICAL GENETICS
Gonzalez-del Pozo, M; Fernandez-Suarez, E; Martin-Sanchez, M; Bravo-Gil, N; Mendez-Vidal, C; Rodriguez-de La Rua, E; Borrego, S; Antinolo, G
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
JOURNAL OF TRANSLATIONAL MEDICINE
Mederer, T; Schmitteckert, S; Volz, J; Martinez, C; Roth, R; Thumberger, T; Eckstein, V; Scheuerer, J; Thoni, C; Lasitschka, F; Carstensen, L; Gunther, P; Holland-Cunz, S; Hofstra, R; Brosens, E; Rosenfeld, JA; Schaaf, CP; Schriemer, D; Ceccherini, I; Rusmini, M; Tilghman, J; Luzon-Toro, B; Torroglosa, A; Borrego, S; Tang, CSM; Garcia-Barcelo, M; Tam, P; Paramasivam, N; Bewerunge-Hudler, M; De La Torre, C; Gretz, N; Rappold, GA; Romero, P; Niesler, B
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
PLOS GENETICS
Torroglosa, A; Villalba-Benito, L; Fernandez, RM; Luzon-Toro, B; Moya-Jimenez, MJ; Antinolo, G; Borrego, S
Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Villalba-Benito, L; Torroglosa, A; Luzon-Toro, B; Fernandez, RM; Moya-Jimenez, MJ; Antinolo, G; Borrego, S
ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Martin-Sanchez, M; Bravo-Gil, N; Gonzalez-del Pozo, M; Mendez-Vidal, C; Fernandez-Suarez, E; Rodriguez-de la Rua, E; Borrego, S; Antinolo, G
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Luzón-Toro B, Fernández RM, Villalba-Benito L, Torroglosa A, Antiñolo G, Borrego S
Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.
Genes (Basel).
Luzón-Toro B, Fernández RM, Martos-Martínez JM, Rubio-Manzanares-Dorado M, Antiñolo G, Borrego S
LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer.
Sci Rep.
Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S
Epigenetic Mechanisms in Hirschsprung Disease.
Int J Mol Sci.
Berta Luzón Toro; Raquel María Fernández; Ana Torroglosa; Leticia Villalba Benito; Guillermo Antiñolo; Salud Borrego
What are Telling us Genetics, Epigenetics and Environment of an Individual with Thyroid Cancer?.
Annals Thyroid Res.
Luzón-Toro Berta, Fernández Raquel M, Martos-Martínez Juan Manuel, Antiñolo Guillermo, Borrego Salud
Identification of new long non-coding RNAs associated with Medullary Thyroid Cancer
Oral Health and Care.
Bravo-Gil N, Marcos I, González-Meneses A, Antiñolo G, Borrego S
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.
Medicine (Baltimore).
Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
NeuromusculDisord
González-Del Pozo M, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Chimenea Á, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
Sci Rep.
