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4. 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

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

Author

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

Subjects
GENETIC mutation, RETINITIS pigmentosa, GUANOSINE triphosphatase
Abstract

The RPGR (retinitis pigmentosa GTPase regulator) gene has been shown to be mutated in 10-20% of patients with X-linked retinitis pigmentosa (XLRP), a severe form of inherited progressive retinal degeneration. A total of 29 different RPGR mutations have been identified in northern European and United States patients. We have performed mutation analysis of the RPGR gene in a cohort of 49 southern European males affected with XLRP. By multiplex SSCA and automatic direct sequencing of all 19 RPGR exons, seven different and novel mutations were identified in eight of the 49 families; these include three splice site mutations, two microdeletions, and two missense mutations. RNA analysis showed that the three splice site defects resulted in the generation of aberrant RPGR transcripts. Six of these mutations were detected in the conserved amino-terminal region of RPGR protein, containing tandem repeats homologous to the RCC1 protein, a guanine nucleotide-exchange factor for RanGTPase. Several exonic and intronic sequence variations were also detected. None of the RPGR mutations reported in other populations were identified in our series. Our results are consistent with the notions of heterogeneity and minority causation of XLRP by mutations in RPGR in Caucasian populations. [ABSTRACT FROM AUTHOR]

Published
1999
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9. 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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