20 results on '"Gamundi M"'
Search Results
2. Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer
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Hernan, I., Mañé, B., Borràs, E., de Sousa Dias, M., Llort, G., Yagüe, C., Gamundi, M. J., Arcusa, À., and Carballo, M.
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- 2015
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3. Detection of novel genetic variation in autosomal dominant retinitis pigmentosa
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Borràs, E, de Sousa Dias, M, Hernan, I, Pascual, B, Mañé, B, Gamundi, M J, Delás, B, and Carballo, M
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- 2013
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4. Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa
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Hernan, I, Gamundi, M J, Borràs, E, Maseras, M, García-Sandoval, B, Blanco-Kelly, F, Ayuso, C, and Carballo, M
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- 2012
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5. Functional analysis of splicing mutations in MYO7A and USH2A genes
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Jaijo, T, Aller, E, Aparisi, M J, García-García, G, Hernan, I, Gamundi, M J, Nájera, C, Carballo, M, and Millán, J M
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- 2011
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6. A video demonstration of three‐dimensional imaging to assess the circumferential resection margin in locally advanced rectal cancer and recurrent rectal cancer – a video vignette
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Garcia‐Granero, A., primary, Pellino, G., additional, Giner, F., additional, Frasson, M., additional, Fletcher‐Sanfeliu, D., additional, Primo Romeguera, V., additional, Flor Lorente, B., additional, Gamundi, M., additional, Brogi, L., additional, Garcia‐Calderón, D., additional, González‐Argente, F. X., additional, and Garcia‐Granero, E., additional
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- 2020
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7. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
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Bernal, S, Solans, T, Gamundi, M J, Hernan, I, de Jorge, L, Carballo, M, Navarro, R, Tizzano, E, Ayuso, C, and Baiget, M
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- 2008
8. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
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Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J, Aguirre F, Aleu M, Alonso X, Alsius M, Amoros M, Antinolo G, Aquino L, Arellano C, Arriola G, Arteaga R, Baena N, Barcos M, Belzunces N, Boronat S, Camacho T, Campistol J, del Campo M, Campo A, Cancho R, Candau R, Canos I, Carrascosa M, Carratala-Marco F, Casano J, Castro P, Cobo A, Colomer J, Conejo D, Corrales M, Cortes R, Cruz G, Csanyi G, de Santos M, de Toledo M, Del Campo M, Del Toro M, Domingo R, Duat A, Duque R, Esparza A, Fernandez R, Fons M, Fontalba A, Galan E, Gallano P, Gamundi M, Garcia P, Garcia M, Garcia-Barcina M, Garcia-Catalan M, Garcia-Cazorla A, Garcia-Minaur S, Garcia-Penas J, Garcia-Silva M, Gassio R, Gean E, Gil B, Gokben S, Gonzalez L, Gonzalez V, Gonzalez J, Gonzalez G, Guillen E, Guitart M, Guitet M, Gutierrez J, Gutierrez E, Herranz J, Iglesias G, Karacic I, Lahoz C, Lao J, Lapunzina P, Lautre-Ecenarro M, Lluch M, Lopez L, Lopez-Ariztegui A, Macaya A, Marin R, Marquez C, Martin E, Martinez B, Martinez-Salcedo E, Mas M, Mateo G, Mendez P, Jimenez A, Moreno S, Mulas F, Narbona J, Nascimento A, Nieto M, Nunes T, Nunez N, Obon M, Onsurbe I, Ortez C, Orts E, Martinez F, Parrilla R, Pascual S, Patino A, Perez-Poyato M, Perez-Duenas B, Poo P, Puche E, Ramos F, Raspall M, Roche A, Roldan S, Rosell J, Ruiz C, Ruiz-Falco M, Russi M, Samarra J, San Antonio V, Sanchez I, Sanmartin X, Sans A, Santacana A, Scholl-Burgi S, Serrano N, Serrano M, Martin-Tamayo P, Tendero A, Torrents J, Tortosa D, Trivino E, Troncoso L, Turon E, Vazquez P, Vazquez C, Velazquez R, Ventura C, Verdu A, Vernet A, Vila M, Villar C, Rett Working Grp, Ege Üniversitesi, [Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Pacheco P] Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain. [Brandi N] Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
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0301 basic medicine ,alelos ,Methyl-CpG-Binding Protein 2 ,Rett, Síndrome de ,humanos ,lcsh:Medicine ,medicine.disease_cause ,0302 clinical medicine ,Genes, X-Linked ,X Chromosome Inactivation ,Genetic Phenomena::Gene Expression Regulation::Epigenesis, Genetic::Dosage Compensation, Genetic::X Chromosome Inactivation [PHENOMENA AND PROCESSES] ,Genotype ,enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::trastornos heredodegenerativos del sistema nervioso::retraso mental ligado al cromosoma X::síndrome de Rett [ENFERMEDADES] ,lcsh:Science ,genes ,X chromosome ,Genetics ,Mutation ,Multidisciplinary ,Molecular medicine ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Heredodegenerative Disorders, Nervous System::Mental Retardation, X-Linked::Rett Syndrome [DISEASES] ,Brain ,Phenotype ,estudios de asociación genética ,fenotipo ,Female ,Sequence Analysis ,encéfalo ,inactivación del cromosoma X ,análisis de secuencias ,congenital, hereditary, and neonatal diseases and abnormalities ,fenómenos genéticos::regulación de la expresión génica::epigénesis genética::compensación de dosis genética::inactivación del cromosoma X [FENÓMENOS Y PROCESOS] ,Rett syndrome ,Biology ,X-inactivation ,Article ,MECP2 ,Cromosoma X ,03 medical and health sciences ,medicine ,Rett Syndrome ,Humans ,Genetic Predisposition to Disease ,Allele ,mutación ,Amino Acids, Peptides, and Proteins::Proteins::Amino Acids, Peptides, and Proteins::Proteins::Nuclear Proteins::Chromosomal Proteins, Non-Histone::Amino Acids, Peptides, and Proteins::Proteins::Methyl-CpG-Binding Protein 2 [CHEMICALS AND DRUGS] ,Alleles ,Genetic Association Studies ,proteína 2 de unión a metil-CpG ,lcsh:R ,predisposición genética a la enfermedad ,Sequence Analysis, DNA ,medicine.disease ,030104 developmental biology ,aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::nucleoproteínas::proteínas cromosómicas no histona::proteína 2 de unión a metil-CpG [COMPUESTOS QUÍMICOS Y DROGAS] ,lcsh:Q ,síndrome de Rett ,genotipo ,Transcripció genètica - Regulació ,030217 neurology & neurosurgery - Abstract
WOS: 000481590200024, PubMed ID: 31427717, Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern., Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER) [PI15/01159]; Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); Catalan Association for Rett Syndrome; Fondobiorett; Mi Princesa Rett, We thank all patients and their families who contributed to this study. The work was supported by grants from the Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER, PI15/01159); Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); the Catalan Association for Rett Syndrome; Fondobiorett and Mi Princesa Rett.
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- 2019
9. De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome
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Hernan, I, Roig, I, Martin, B, Gamundi, M J, Martinez-Gimeno, M, and Carballo, M
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- 2004
10. New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP
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Sousa Dias, M., Hernan, I., Delás, B., Pascual, B., Borràs, E., Gamundi, M. J., Mañé, B., José, P. F. -S, Carmen Ayuso, and Carballo, M.
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Male ,Rhodopsin ,DNA Breaks ,DNA Mutational Analysis ,Genetic Variation ,High-Throughput Nucleotide Sequencing ,Collagen Type VI ,Exons ,eye diseases ,Introns ,Pedigree ,Humans ,Exome ,Female ,3' Untranslated Regions ,Multiplex Polymerase Chain Reaction ,Retinitis Pigmentosa ,Research Article ,Genes, Dominant ,Sequence Deletion - Abstract
Purpose This study aimed to test a newly devised cost-effective multiplex PCR assay for the molecular diagnosis of autosomal dominant retinitis pigmentosa (adRP), as well as the use of whole-exome sequencing (WES) to detect disease-causing mutations in adRP. Methods Genomic DNA was extracted from peripheral blood lymphocytes of index patients with adRP and their affected and unaffected family members. We used a newly devised multiplex PCR assay capable of amplifying the genetic loci of RHO, PRPH2, RP1, PRPF3, PRPF8, PRPF31, IMPDH1, NRL, CRX, KLHL7, and NR2E3 to molecularly diagnose 18 index patients with adRP. We also performed WES in affected and unaffected members of four families with adRP in whom a disease-causing mutation was previously not found. Results We identified five previously reported mutations (p.Arg677X in the RP1 gene, p.Asp133Val and p.Arg195Leu in the PRPH2 gene, and p.Pro171Leu and p.Pro215Leu in the RHO gene) and one novel mutation (p.Val345Gly in the RHO gene) representing 33% detection of causative mutations in our adRP cohort. Comparative WES analysis showed a new variant (p.Gly103Arg in the COL6A6 gene) that segregated with the disease in one family with adRP. As this variant was linked with the RHO locus, we sequenced the complete RHO gene, which revealed a deletion in intron 4 that encompassed all of exon 5 and 28 bp of the 3′-untranslated region (UTR). Conclusions The novel multiplex PCR assay with next-generation sequencing (NGS) proved effective for detecting most of the adRP-causing mutations. A WES approach led to identification of a deletion in RHO through detection of a new linked variant in COL6A6. No pathogenic variants were identified in the remaining three families. Moreover, NGS and WES were inefficient for detecting the complete deletion of exon 5 in the RHO gene in one family with adRP. Carriers of this deletion showed variable clinical status, and two of these carriers had not previously been diagnosed with RP.
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- 2015
11. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
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Gamundi, M. J., Hernan, I., Muntanyola, M., Trujillo, M. J., García-Sandoval, B., Carmen Ayuso, Baiget, M., and Carballo, M.
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Adult ,Fundus Oculi ,Mutation, Missense ,Peripherins ,Nerve Tissue Proteins ,Arginine ,Cytosine ,Macular Degeneration ,Gene Frequency ,Intermediate Filament Proteins ,Humans ,Protein Splicing ,Aged ,Genes, Dominant ,Membrane Glycoproteins ,Tryptophan ,Middle Aged ,eye diseases ,Introns ,Pedigree ,Amino Acid Substitution ,Codon, Nonsense ,Spain ,Mutation ,sense organs ,Thymine ,Research Article - Abstract
Purpose Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominant macular dystrophy. Methods Ophthalmic and electrophysiological examination was performed in patients from 61 unrelated autosomal dominant macular dystrophy (adMD) Spanish families. Screening for mutations in the peripherin/RDS gene by denaturing gradient gel electrophoresis (DGGE) and direct genomic sequencing was performed in index patients and extended to the family when positive. Results We report four novel mutations in peripherin/RDS and a relatively high frequency (23%) of mutations in this gene in families with adMD. Thirteen different mutations were found in fifteen adMD families. Three novel missense, four nonsense and a cis-acting splicing mutation IVS2+2T>C, were found in a Spanish population while five more missense mutations were also reported in other populations. The Arg142Trp and Arg172Trp mutations, present in several populations, were both detected in two independent Spanish families. All the missense mutations produce an amino acid substitution in the second intradiscal loop of the peripherin, while the nonsense mutations presumably generate a truncated protein. Conclusions A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population. Different macular dystrophy phenotypes according to the mutations in peripherin/RDS are shown. However, a limited phenotype variation was observed for these mutations within the family.
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- 2007
12. Revisión sobre el uso de guantes en los hospitales.
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Gaspar Carreño, M., Arias Pou, P., Rodríguez Berges, O., Gamundi, M. C., and Carbonell Tatay, F.
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GLOVES ,LATEX ,HEALTH products ,HYGIENE products ,MEDICAL personnel ,ALLERGIES ,HOSPITALS - Abstract
Copyright of El Farmacéutico Hospitales is the property of Ediciones Mayo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2011
13. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration
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Gamundi, M. J., Hernan, I., Maseras, M., Baiget, M., Carmen Ayuso, Borrego, S., Antiñolo, G., Millán, J. M., Valverde, D., and Carballo, M.
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congenital, hereditary, and neonatal diseases and abnormalities ,genetic structures ,sense organs ,eye diseases - Abstract
Only one mutation in the retinal fascin gene (FSCN2) has so far been associated with autosomal dominant retinitis pigmentosa (adRP) and macular dystrophy (adMD), in a Japanese population. Our study was designed to identify mutations in the FSCN2 gene among Spanish persons with adRP or adMD.
14. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population
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ELENA MILLA, Mañé, B., Duch, S., Hernan, I., Borràs, E., Planas, E., Dias, M. S., Carballo, M., and José Gamundi, M.
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Male ,Heterozygote ,genetic structures ,DNA Mutational Analysis ,Consanguinity ,Anterior Eye Segment ,Humans ,Family ,Genetic Predisposition to Disease ,Eye Abnormalities ,Eye Proteins ,Genetic Association Studies ,Glycoproteins ,Incidence ,Eye Diseases, Hereditary ,Glaucoma ,Health Surveys ,eye diseases ,Pedigree ,body regions ,Cytoskeletal Proteins ,Spain ,Cytochrome P-450 CYP1B1 ,Mutation ,Female ,sense organs ,Aryl Hydrocarbon Hydroxylases ,Research Article - Abstract
Purpose To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT). Methods Index patients from 226 families participated in this study. Patients were diagnosed with familial glaucoma or OHT by complete ophthalmologic examination. Screening for MYOC mutations was performed in 207 index patients: 96 with adult-onset primary open-angle glaucoma (POAG), 21 with primary congenital glaucoma (PCG), 18 with juvenile-onset open-angle glaucoma (JOAG), five with Axenfeld-Rieger syndrome (ARS), and 67 with other types of glaucoma. One hundred two of the families (including all those in whom a MYOC mutation was detected) were also screened for CYP1B1 mutations: 45 POAG, 25 PCG, 21 JOAG, four ARS, and seven others. Results We examined 292 individuals (patients and relatives) with a positive family history of glaucoma or OHT. We identified two novel MYOC variants, p.Lys39Arg and p.Glu218Lys, in two families with POAG, and six previously reported MYOC mutations in seven families with POAG (four), JOAG (one), PCG (one), and normotensive glaucoma (one). CYP1B1 mutations were found in 16 index patients with PCG (nine), POAG (three), JOAG (two), and ARS (two). Conclusions The high percentage (9/25=36%) of mutations in CYP1B1 found in non-consanguineous patients with congenital glaucoma mandates genetic testing. However, the percentage of mutations (9/207=4.4%) in MYOC associated with glaucoma is relatively low in our population. The variable phenotype expression of glaucoma, even in families, cannot be explained with a digenic mechanism between MYOC and CYP1B1.
15. Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencing
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Agúndez José AG, Arcusa Àngels, Mañé Begoña, Martí Isabel, Dias Miguel, Gamundi María, Hernan Imma, Jurado Ismael, Borràs Emma, Blanca Miguel, and Carballo Miguel
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Abstract Background Epidermal growth factor receptor (EGFR) and its downstream factors KRAS and BRAF are mutated in several types of cancer, affecting the clinical response to EGFR inhibitors. Mutations in the EGFR kinase domain predict sensitivity to the tyrosine kinase inhibitors gefitinib and erlotinib in lung adenocarcinoma, while activating point mutations in KRAS and BRAF confer resistance to the anti-EGFR monoclonal antibody cetuximab in colorectal cancer. The development of new generation methods for systematic mutation screening of these genes will allow more appropriate therapeutic choices. Methods We describe a high resolution melting (HRM) assay for mutation detection in EGFR exons 19-21, KRAS codon 12/13 and BRAF V600 using formalin-fixed paraffin-embedded samples. Somatic variation of KRAS exon 2 was also analysed by massively parallel pyrosequencing of amplicons with the GS Junior 454 platform. Results We tested 120 routine diagnostic specimens from patients with colorectal or lung cancer. Mutations in KRAS, BRAF and EGFR were observed in 41.9%, 13.0% and 11.1% of the overall samples, respectively, being mutually exclusive. For KRAS, six types of substitutions were detected (17 G12D, 9 G13D, 7 G12C, 2 G12A, 2 G12V, 2 G12S), while V600E accounted for all the BRAF activating mutations. Regarding EGFR, two cases showed exon 19 deletions (delE746-A750 and delE746-T751insA) and another two substitutions in exon 21 (one showed L858R with the resistance mutation T590M in exon 20, and the other had P848L mutation). Consistent with earlier reports, our results show that KRAS and BRAF mutation frequencies in colorectal cancer were 44.3% and 13.0%, respectively, while EGFR mutations were detected in 11.1% of the lung cancer specimens. Ultra-deep amplicon pyrosequencing successfully validated the HRM results and allowed detection and quantitation of KRAS somatic mutations. Conclusions HRM is a rapid and sensitive method for moderate-throughput cost-effective screening of oncogene mutations in clinical samples. Rather than Sanger sequence validation, next-generation sequencing technology results in more accurate quantitative results in somatic variation and can be achieved at a higher throughput scale.
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- 2011
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16. Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
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Antiñolo Guillermo, Ayuso Carmen, García-Sandoval Blanca, Maseras Miquel, Martínez-Gimeno María, Hernan Imma, Gamundi María, Baiget Montserrat, and Carballo Miguel
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Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3–10% of cases of autosomal dominant RP (adRP). Most of these mutations are clustered in a 500 bp region of exon 4 of RP1. Methods Denaturing gradient gel electrophoresis (DGGE) analysis and direct genomic sequencing were used to evaluate the 5' coding region of exon 4 of the RP1 gene for mutations in 150 unrelated index adRP patients. Ophthalmic and electrophysiological examination of RP patients and relatives according to pre-existing protocols were carried out. Results Three novel disease-causing mutations in RP1 were detected: Q686X, K705fsX712 and K722fsX737, predicting truncated proteins. One novel missense mutation, Thr752Met, was detected in one family but the mutation does not co-segregate in the family, thereby excluding this amino acid variation in the protein as a cause of the disease. We found the Arg677Ter mutation, previously reported in other populations, in two independent families, confirming that this mutation is also present in a Spanish population. Conclusion Most of the mutations reported in the RP1 gene associated with adRP are expected to encode mutant truncated proteins that are approximately one third or half of the size of wild type protein. Patients with mutations in RP1 showed mild RP with variability in phenotype severity. We also observed several cases of non-penetrant mutations.
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- 2006
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17. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
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Perea-Romero, I., Gordo, G., Iancu, I.F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreño, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Pérez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M.J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M.A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M.I., Perez-Carro, R., Da Silva, L.R.J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S.D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M.J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antiñolo, G., Baiget, M., Carballo, M., Millan, J.M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F.P.M., Collin, R.W.J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M.C., Ballesta-Martinez, M.J., Beltran, S., Benito Lopez, C., Català-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galán-Gómez, E., Garcia-Barcina, M., Garcia-Cruz, L.M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Álvarez, S., Llano-Rivas, I., López-Ariztegui, M.A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F.J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Peña, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., Ayuso, C., Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Comunidad de Madrid, European Commission, ONCE, Fundación Ramón Areces, Fundación Conchita Rábago de Jiménez Díaz, UAM. Departamento de Medicina, Perea-Romero, I., Gordo, G., Iancu, I. F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreno, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Perez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M. J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M. A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M. I., Perez-Carro, R., Da Silva, L. R. J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S. D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M. J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antinolo, G., Baiget, M., Carballo, M., Millan, J. M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F. P. M., Collin, R. W. J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M. C., Ballesta-Martinez, M. J., Beltran, S., Benito Lopez, C., Catala-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galan-Gomez, E., Garcia-Barcina, M., Garcia-Cruz, L. M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Alvarez, S., Llano-Rivas, I., Lopez-Ariztegui, M. A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F. J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Pena, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., and Ayuso, C.
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Male ,0301 basic medicine ,Peripherins ,ABCA4 ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Cohort Studies ,0302 clinical medicine ,Epidemiology ,Genetics research ,Prevalence ,Genetics ,Extracellular Matrix Proteins ,Multidisciplinary ,medicine.diagnostic_test ,biology ,Molecular medicine ,pedigree ,genetic screening ,Middle Aged ,Phenotype ,Myosin VIIa ,Cohort ,Medicine ,Female ,Adult ,medicine.medical_specialty ,MYO7A ,Medicina ,Science ,Article ,03 medical and health sciences ,retinitis pigmentosa ,Retinal Dystrophies ,Retinitis pigmentosa ,medicine ,Humans ,Genetic Testing ,Clinical genetics ,Eye Proteins ,Author Correction ,Gene ,Aged ,Retrospective Studies ,Genetic testing ,Hereditary eye disease ,DNA ,medicine.disease ,Cross-Sectional Studies ,030104 developmental biology ,retina dystrophy ,Spain ,030221 ophthalmology & optometry ,biology.protein ,ATP-Binding Cassette Transporters ,mutation - Abstract
ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group., Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations., This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006).
- Published
- 2021
18. A video demonstration of three-dimensional imaging to assess the circumferential resection margin in locally advanced rectal cancer and recurrent rectal cancer - a video vignette
- Author
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Matteo Frasson, V. Primo Romeguera, Delfina Fletcher-Sanfeliu, E. García-Granero, L. Brogi, D. Garcia‐Calderón, Gianluca Pellino, Francisco Giner, Álvaro García-Granero, Francesc Xavier González-Argente, B. Flor Lorente, M. Gamundi, Garcia-Granero, A., Pellino, G., Giner, F., Frasson, M., Fletcher-Sanfeliu, D., Primo Romeguera, V., Flor Lorente, B., Gamundi, M., Brogi, L., Garcia-Calderon, D., Gonzalez-Argente, F. X., and Garcia-Granero, E.
- Subjects
medicine.medical_specialty ,business.industry ,Colorectal cancer ,Rectal Neoplasms ,Gastroenterology ,Locally advanced ,Rectum ,Margins of Excision ,medicine.disease ,Three dimensional imaging ,Imaging, Three-Dimensional ,Treatment Outcome ,Vignette ,Medicine ,Humans ,Circumferential resection margin ,Radiology ,Neoplasm Recurrence, Local ,business ,Recurrent Rectal Cancer ,Neoplasm Staging - Published
- 2020
19. A mathematical 3D-method applied to MRI to evaluate prostatic infiltration in advanced rectal cancer
- Author
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Matteo Frasson, Blas Flor-Lorente, Francisco Giner, L. Brogi, Álvaro García-Granero, Vicent Primo Romaguera, D. Garcia‐Calderón, E. García-Granero, Delfina Fletcher-Sanfeliu, F X Gonzalez-Argente, Gianluca Pellino, M. Gamundi, Garcia-Granero, A., Pellino, G., Giner, F., Frasson, M., Fletcher-Sanfeliu, D., Romaguera, V. P., Flor-Lorente, B., Gamundi, M., Brogi, L., Garcia-Calderon, D., Gonzalez-Argente, F. X., and Garcia-Granero, E.
- Subjects
Male ,medicine.medical_specialty ,Colorectal cancer ,business.industry ,Rectal Neoplasms ,Gastroenterology ,MEDLINE ,Prostate ,Rectum ,Prostatic Neoplasms ,medicine.disease ,Magnetic Resonance Imaging ,Colorectal surgery ,medicine ,Humans ,Surgery ,Radiology ,business ,Infiltration (medical) ,Abdominal surgery ,Neoplasm Staging - Published
- 2020
20. [Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].
- Author
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Millá E, Maseras M, Martínez-Gimeno M, Gamundi MJ, Assaf H, Esmerado C, and Carballo M
- Subjects
- Amino Acid Substitution, Basic-Leucine Zipper Transcription Factors, DNA Mutational Analysis, DNA-Binding Proteins genetics, Genes, Dominant, Homeodomain Proteins genetics, Humans, Intermediate Filament Proteins genetics, Membrane Proteins genetics, Microtubule-Associated Proteins, Mutation, Missense, Nerve Tissue Proteins genetics, Peripherins, Point Mutation, Retinitis Pigmentosa blood, Retinitis Pigmentosa pathology, Rhodopsin genetics, Tetraspanins, Trans-Activators genetics, Eye Proteins genetics, Membrane Glycoproteins, Mutation, Retinitis Pigmentosa genetics
- Abstract
Objective: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP)., Methods: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL., Results: 148 ADRP index cases were examined at our hospital from June 1991 to September 2001. Genetic analysis detected the following mutations: 29 different families (19.5%) carried a RHO mutation among which the Pro-347-Leu was the most frequent one, five different RP-1 mutations (3.3%), 2 RDS mutations and one NRL mutation, which is the second reported in the world literature., Conclusions: RHO followed by RP1 are the most frequent ADRP-causing genes in our series as in other published ones, and RDS causes mainly macular dystrophies. Molecular characterization was possible in 37 families (25%) which is of great interest for visual prognosis and genetic counselling.
- Published
- 2002
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