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12 results on '"Antinolo, Guillermo"'

1. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

Author

Borrego, Salud, Wright, Fred A., Fernandez, Raquel M., Williams, Nita, Lopez-Alonso, Manuel, Davuluri, Ramana, Antinolo, Guillermo, and Eng, Charis

Subjects
Hirschsprung's disease -- Physiological aspects, Hirschsprung's disease -- Genetic aspects, Thyroid cancer -- Physiological aspects, Thyroid cancer -- Genetic aspects, Biological sciences
Published
2003

2. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

Author

Ruiz, Agustin, Borrego, Salud, Araneta, Irene, and Antinolo, Guillermo

Subjects
Spain -- Health aspects, Genetic disorders -- Research, Chromosome mapping -- Usage, Retinitis pigmentosa -- Genetic aspects, Biological sciences
Abstract

A major locus for autosomal recessive retinitis pigmentosa (arRP) has been identified on 6q between markers D6S257 and D6S1644. It was established by homozygosity mapping in inbred families of chromosomal regions containing gamma-aminobutyric acid-receptor clusters. RP has extensive allelic and nonallelic genetic herogeneity. It appears that 10-20% of Spanish families affected by typical arRP may have linkage to the new locus. Of the cases of the disease in Spain, 47% present autosomal recessive inheritance.

Published
1998

6. Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus

Author

Li, Yang, Araneta, Irene, Borrego, Salud, Yu, Zhengya, Zhang, Kang, and Antinolo, Guillermo

Subjects
Eye diseases -- Genetic aspects, Linkage (Genetics) -- Analysis -- Genetic aspects, Retinitis pigmentosa -- Genetic aspects, Health
Abstract

EDITOR--Retinitis pigmentosa (RP) is the most common form of retinal dystrophy. Patients present with night blindness and progressive narrowing of the visual field, eventually leading to central vision loss. Fundus [...]

Published
2001

8. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

Author

Miano, Maria Giuseppina, primary, Testa, Francesco, additional, Strazzullo, Maria, additional, Trujillo, Mariajose, additional, De Bernardo, Carmelilia, additional, Grammatico, Barbara, additional, Simonelli, Francesca, additional, Mangino, Massimo, additional, Torrente, Isabella, additional, Ruberto, Giulio, additional, Beneyto, Magdalena, additional, Antinolo, Guillermo, additional, Rinaldi, Ernesto, additional, Danesino, Cesare, additional, Ventruto, Valerio, additional, D'Urso, Michele, additional, Ayuso, Carmen, additional, Baiget, Monserrat, additional, and Ciccodicola, Alfredo, additional

Published
1999
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11. 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

Author

Maria Dolores Lozano-Arana, Salud Borrego, Raquel M. Fernández, Guillermo Antiñolo, Juan Carlos García-Lozano, Ana Peciña, Beatriz Sánchez, Junta de Andalucía, Universidad de Sevilla. Departamento de Cirugía, [Maria Fernandez, Raquel] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Dolores Lozano-Arana, Maria] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Sanchez, Beatriz] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Pecina, Ana] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Carlos Garcia-Lozano, Juan] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Borrego, Salud] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Antinolo, Guillermo] Univ Seville, CSIC, Univ Hosp Virgen del Rocio, Inst Biomed Seville IBIS,Dept Genet Reprod & Fet, Seville, Spain, [Maria Fernandez, Raquel] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, [Pecina, Ana] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, [Borrego, Salud] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, [Antinolo, Guillermo] Ctr Biomed Network Res Rare Dis CIBERER, Seville, Spain, and 'Fundacion Publica Andaluza Progreso y Salud,' within the Regional Ministry of Health of the Autonomous Government of Andalucia

Subjects
Adult, Male, musculoskeletal diseases, Controlled ovarian stimulation, medicine.medical_specialty, Article Subject, Reproductive Outcome, lcsh:Medicine, Physiology, Disease, Preimplantation genetic diagnosis, Myotonic dystrophy, General Biochemistry, Genetics and Molecular Biology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Myotonic Dystrophy, Women, Muscular dystrophy, Reserve, Myotonic Dystrophy Type 1, Preimplantation Diagnosis, Gynecology, 030219 obstetrics & reproductive medicine, General Immunology and Microbiology, business.industry, lcsh:R, Haplotype, Pregnancy Outcome, General Medicine, medicine.disease, Haplotypes, Female, business, Live birth, 030217 neurology & neurosurgery, Research Article, Microsatellite Repeats, Cohort study
Abstract

Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. A reproductive option for the families affected is preimplantation genetic diagnosis (PGD). One limitation of this option is the nonoptimal response to ovarian stimulation of the women with DM1, although controversial results exist regarding this subject. In this study, we have analyzed the results of the PGD program applied to DM1 at our institution. A total of 35 couples have been included in our program since 2010, and 59 cycles have been performed. The percentage of transfers per cycle was 64.4% and the live birth rate per cycle was 18.6%. Interestingly, statistically significant differences were observed for the clinical results in the group of couples with an affected female versus the group with an affected male or versus a group of couples with different referral reasons. Specifically, both the percentage of mature oocytes out of the total oocytes retrieved and the percentage of fertilization were considerably lower in the group of DM1 females. Our findings would suggest the possibility of achieving less favourable PGD outcomes in women with DM1 in comparison with other pathologies, although the underlying mechanism remains unknown., This work was supported by the Project PI-105-2011, funded by “Fundación Pública Andaluza Progreso y Salud,” within the Regional Ministry of Health of the Autonomous Government of Andalucia.

Published
2017

12. Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease

Author

Raquel M. Fernández, Guillermo Antiñolo, Salud Borrego, María José Moya-Jiménez, Leticia Villalba-Benito, Ana Torroglosa, Instituto de Salud Carlos III, European Commission, Junta de Andalucía, [Torroglosa, Ana] Univ Seville, Univ Hosp Virgen del Rocio, Dept Genet Reprod & Fetal Med, Inst Biomed Seville,CSIC, Seville 41013, Spain, [Villalba-Benito, Leticia] Univ Seville, Univ Hosp Virgen del Rocio, Dept Genet Reprod & Fetal Med, Inst Biomed Seville,CSIC, Seville 41013, Spain, [Maria Fernandez, Raquel] Univ Seville, Univ Hosp Virgen del Rocio, Dept Genet Reprod & Fetal Med, Inst Biomed Seville,CSIC, Seville 41013, Spain, [Antinolo, Guillermo] Univ Seville, Univ Hosp Virgen del Rocio, Dept Genet Reprod & Fetal Med, Inst Biomed Seville,CSIC, Seville 41013, Spain, [Borrego, Salud] Univ Seville, Univ Hosp Virgen del Rocio, Dept Genet Reprod & Fetal Med, Inst Biomed Seville,CSIC, Seville 41013, Spain, [Torroglosa, Ana] Ctr Biomed Network Res Rare Dis, Seville 41013, Spain, [Villalba-Benito, Leticia] Ctr Biomed Network Res Rare Dis, Seville 41013, Spain, [Maria Fernandez, Raquel] Ctr Biomed Network Res Rare Dis, Seville 41013, Spain, [Antinolo, Guillermo] Ctr Biomed Network Res Rare Dis, Seville 41013, Spain, [Borrego, Salud] Ctr Biomed Network Res Rare Dis, Seville 41013, Spain, [Jose Moya-Jimenez, Maria] Univ Hosp Virgen del Rocio, Dept Pediat Surg, Seville 41013, Spain, European Union (ERDF/ESF, 'Investing in your future'), Regional Ministry of Innovation, Science and Enterprise of the Autonomous Government of Andalucia, Universidad de Sevilla. Departamento de Cirugía., and CTS-106: Genética médica en Ciencias de la Salud.

Subjects
0301 basic medicine, P21, Hirschsprung disease, DNMT3B, Apoptosis, Expression, Biology, ENS development, Methylation, 03 medical and health sciences, Dna methyltransferases, Precursor cell, DNMT3b, Gene knockdown, Gastrointestinal tract, Ret protooncogene, P53, Neural crest development, Neural crest, Anatomy, Cancer-cells, Embryonic stem-cells, In vitro, Cell biology, 030104 developmental biology, Oncology, Differentiation, embryonic structures, Enteric nervous system, Signal transduction, Research Paper
Abstract

Hirschsprung disease (HSCR, OMIM 142623) is a pathology that shows a lack of enteric ganglia along of the distal gastrointestinal tract. This aganglionosis is attributed to an abnormal proliferation, migration, differentiation and/or survival of enteric precursor cells (EPCs) derived from neural crest cells (NCCs) during the enteric nervous system (ENS) embryogenesis. DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicated in ENS formation as well as in HSCR. In this study we have aimed to elucidate the specific mechanism underlying the DNMT3b role in such processes. We have performed the knockdown of Dnmt3b expression (Dnmt3b-KD) in enteric precursor cells (EPCs) to clarify its role on these cells in vitro. Moreover, we have analyzed several signaling pathways to determine the mechanisms responsible for the effect caused by Dnmt3b-KD in EPCs. Our results seem to support that Dnmt3b-KD promotes an increase EPCs proliferation that may be mediated by P53 and P21 activity, since both proteins were observed to be down-regulated in our Dnmt3b-KD cultures. Moreover, we observed a down-regulation of P53 and P21 in HSCR patients. These results lead us to propose that DNMT3b could be involved in HSCR through P53 and P21 activity., This work was supported by the project “PI16/01422” funded by Instituto de Salud Carlos III and co-funded by European Union (ERDF/ESF, “Investing in your future”) and by the project “CTS-7447” funded by Regional Ministry of Innovation, Science and Enterprise of the Autonomous Government of Andalucia. L V-B is supported by a fellowship associated whit the CTS-7447 project.

Published
2017

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