Oncohematología y Genética

Genética clínica y medicina genómica

Salud Borrego López
Salud Borrego López
IBiS
Campus Hospital Universitario Virgen del Rocío
Avda. Manuel Siurot, s/n.
41013 · Sevilla

Laboratorio: 205

Salud Borrego López

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  1. Miembros del grupo
  2. Áreas de trabajo
  3. Publicaciones

Grupo: Genética clínica y medicina genómica

Directorio
Miembros del grupo Genética clínica y medicina genómica
  • Borrego López, Salud.Doctora en Medicina y Cirugía. Jefe de Sección (HUVR).
  • Escalante Martín, Francisco Javier.Técnico en Administración y Sistemas Informáticos
  • Fernández García, Raquel.Doctora en Farmacia. FEA (HUVR).
  • Lucena Prados, Elena.Lda. en Biología. Doctora en Biotecnología
  • Luzón Toro, Berta.Doctora en Biología. Postdoctoral.
  • Muñoz Redondo, Carmen.Diplomada en Biotecnología

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

Revistas Internacionales
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.
Fernández RM, Lozano-Arana MD, Sánchez B, Peciña A, García-Lozano JC, Borrego S, Antiñolo G.
Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
Biomed Res Int.
Fernández-Perea Y, García-Díaz L, Sánchez J, Antiñolo G, Borrego S.
Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy.
Case RepObstetGynecol.
Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM.
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Genome Biol
Mancikova V, Montero-Conde C, Perales-Patón J, Fernández A, Santacana M, Jodkowska K, Inglada-Pérez L, Castelblanco E, Borrego S, Encinas M, Matías-Guiu X, Fraga M, Robledo M.
Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in RETM918TTumors.
ClinCancer Res
Núñez-Ramos R, Fernández RM, González-Velasco M, Ruiz-Contreras J, Galán-Gómez E, Núñez-Núñez R, Borrego S.
A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics
PediatrDevPathol
Ruiz-Ferrer M, Fernández RM, Navarro E, Antiñolo G, Borrego S
ESR2 Gene and Medullary Thyroid Carcinoma.
Thyroid.
Torroglosa A, Villalba-Benito L, Fernández RM, Moya-Jiménez MJ, Antiñolo G, Borrego S.
Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novomethyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease.
Oncotarget.
Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C.
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Neurologia
Villalba-Benito L, Torroglosa A, Fernández RM, Ruíz-Ferrer M, Moya-Jiménez MJ, Antiñolo G, Borrego S.
Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease.
Sci Rep.
Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Sci Rep