Výsledky vyhledávání - "Miguel Martin Abelleyro"

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms

Autor: Maricel F. Molina, Sofia Siffo, Ezequiela Adrover, Héctor M. Targovnik, Miguel Martin Abelleyro, Karen G. Scheps, Mauricio Gomes Pio, Carina M. Rivolta

Publikováno v: Molecular and cellular endocrinology. 534

Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead to permanent congenital hypoth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34fdac2a53fa708c79cc8ee745dd9af7
https://pubmed.ncbi.nlm.nih.gov/34119605

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Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A

Autor: Claudia Pamela Radic, Miguel Martin Abelleyro, Vanina Daniela Marchione, Tomás Tetzlaff, Karen Waisman, D. Neme, Liliana Carmen Rossetti, Carlos Daniel de Brasi

Publikováno v: Human mutationREFERENCES. 41(4)

Hemophilia A (HA) provides excellent models to analyze genotype-phenotype relationships and mutational mechanisms. NhF8ld's breakpoints were characterized using case-specific DNA-tags, direct- or inverse-polymerase chain reaction amplification, and S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666ff699caf3c3d95468b4391673b4df
https://pubmed.ncbi.nlm.nih.gov/31898853

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Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia

Autor: Vanina Daniela Marchione, Enrique Medina-Acosta, Miguel Martin Abelleyro, Micaela Palmitelli, Claudia Pamela Radic, Carlos Daniel de Brasi, Liliana Carmen Rossetti, Irene Larripa, D. Neme

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Among other applications of long-distance haplotype phasing in clinical genetics, determination of linked DNA markers as surrogate for problematic structural variants (e.g., repeat-mediated rearrangements) is essential to perform diagnosis from low-q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a1782c9b04f11f9dbcf029b79aa974
https://europepmc.org/articles/PMC6460640/

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F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications

Autor: Maria de Los Angeles Curto, Claudia Pamela Radic, Liliana Carmen Rossetti, Miguel Martin Abelleyro, Carlos Daniel de Brasi, Vanina Daniela Marchione

Publikováno v: Thrombosis and Haemostasis. 115:678-681

F8 intron 22 inversions (INV22), the commonest cause of severe haemophilia A (HA), are mostly represented by type I (INV22-1) and type II (INV22-2) patterns (4:1) using BclI-fragments´ based techniques such as inverse shifting-PCR (IS-PCR/2008). Usi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7788c6596259a5ea0906de3cc7c347bb
https://doi.org/10.1160/th15-08-0643

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Akademický článek

Assessment of interleukin-10 promoter variant (−1082A/G) and cytokine production in patients with hemolytic uremic syndrome

Autor: Micaela Aldana Mongelos, Fernando Nicolás Sosa, Gonzalo Ezequiel Pineda, Gabriela Fiorentino, Adriana Santiago, Miguel Martín Abelleyro, Liliana Carmen Rossetti, Ramón Exeni, Carlos Daniel De Brasi, Marina Sandra Palermo, María Victoria Ramos

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

IntroductionHemolytic uremic syndrome (HUS) is a condition that results in acute kidney failure mainly in children, which is caused by Shiga toxin–producing Escherichia coli and inflammatory response. Although anti-inflammatory mechanisms are trigg

Externí odkaz: https://doaj.org/article/4346075b680c4f71aebc3126dd4f3fb4

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Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR

Autor: Miguel Martin Abelleyro, Irene Larripa, Liliana Carmen Rossetti, Carlos Daniel de Brasi, Claudia Pamela Radic

Publikováno v: International Journal of Molecular Sciences, Vol 12, Iss 10, Pp 7271-7285 (2011)
International Journal of Molecular Sciences
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685814c926cb9c38ba803b25c9fe336a
https://doi.org/10.3390/ijms12107271

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Are int22h-mediated deletions a common cause of hemophilia?

Autor: Irene Larripa, M. Candela, Claudia Pamela Radic, Liliana Carmen Rossetti, Carlos Daniel de Brasi, Miguel Martin Abelleyro

Publikováno v: Annals of Hematology. 91:633-636

Dear Editor, Hemophilia A (HA) (OMIM 306700) is an X-linked inherited bleeding disorder caused by deleterious mutations in the coagulation factor VIII gene (F8). Even though there is a broad diversity of HA-causative mutations, an uncommon type of re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5794972baac6e42108d9c4ab13ea321c
https://doi.org/10.1007/s00277-011-1295-z

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Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks

Autor: I. Szurkalo, L. C. Rossetti, Miguel Martin Abelleyro, Raúl Pérez Bianco, L. Primiani, C. P. Radic, M. de Tezanos Pinto, D. Neme, M. Candela, I. B. Larripa, C. D. De Brasi

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 19(4)

Inhibitor development against exogenous factor VIII is a severe impairment of replacement therapy affecting 18% of Argentine patients with severe haemophilia A (HA). To study the molecular predisposition for inhibitor development, we genotyped 260 HA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3daf13ecd950a5567d813fb2e38aa1
https://pubmed.ncbi.nlm.nih.gov/23534532

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Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples

Autor: Johanna Romina Zuccoli, Carlos Daniel de Brasi, Liliana Carmen Rossetti, Miguel Martin Abelleyro, Claudia Pamela Radic, Irene Larripa

Publikováno v: Prenatal diagnosis. 29(12)

Almost one half of severe hemophilia A cases are caused by intron 22 (Inv22) and intron 1 (Inv1) factor VIII gene inversions worldwide. To improve the analysis of the presence of Inv22 and Inv1 from chorionic villus-extracted DNA samples, we applied

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a85493445142658d813115c85803c6fb
https://pubmed.ncbi.nlm.nih.gov/19842127

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