Výsledky vyhledávání - "Bibiana Paoli"

Akademický článek

Role of germinal center and CD39highCD73+ B cells in the age-related tonsillar involution

Autor: Rocío Pastor, Juliana Puyssegur, M. Paula de la Guardia, Lindybeth Sarmiento Varón, Gladys Beccaglia, Nicolás Spada, Andrea Paes de Lima, M. Soledad Collado, Andrés Blanco, Isabel Aspe Scetti, M. Elena Arabolaza, Bibiana Paoli, Fernando Chirdo, Eloísa Arana

Publikováno v: Immunity & Ageing, Vol 21, Iss 1, Pp 1-13 (2024)

Abstract Background The tonsils operate as a protection ring of mucosa at the gates of the upper aero-digestive tract. They show similarities with lymph nodes and participate as inductive organs of systemic and mucosal immunity. Based on the reductio

Externí odkaz: https://doaj.org/article/8fbf69f2903347e89bada18ab97c7110

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Akademický článek

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Autor: Paula I. Buonfiglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, Florencia Giliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, Ernesto Goldschmidt, Ana Belén Elgoyhen, Viviana Dalamón

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)

Abstract Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafne

Externí odkaz: https://doaj.org/article/566dfa2b97ec4284a3729f4ceba24c83

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Akademický článek

Role of Tonsillar Chronic Inflammation and Commensal Bacteria in the Pathogenesis of Pediatric OSA

Autor: Lindybeth Sarmiento Varón, Javier De Rosa, Raquel Rodriguez, Pablo M. Fernández, L. Ariel Billordo, Plácida Baz, Gladys Beccaglia, Nicolás Spada, F. Tatiana Mendoza, Claudia M. Barberis, Carlos Vay, M. Elena Arabolaza, Bibiana Paoli, Eloísa I. Arana

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Immune responses at the boundary between the host and the world beyond are complex and mucosal tissue homeostasis relies on them. Obstructive sleep apnea (OSA) is a syndrome suffered by children with hypertrophied tonsils. We have previously demonstr

Externí odkaz: https://doaj.org/article/3a35aab0996749039289ec38cdfb9647

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Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Publikováno v: Scientific Reports
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)

Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafness. After

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025dabee8399dca159205f7b624aedb8
https://pubmed.ncbi.nlm.nih.gov/34997062

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GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Autor: Viviana Karina Dalamon, Leonela Natalia Luce, Sebastián Menazzi, Ana Belén Elgoyhen, Vanesa Lotersztein, Bibiana Paoli, Paula Inés Buonfiglio, Florencia Giliberto, Carlos David Bruque

Publikováno v: Genes
Genes, Vol 11, Iss 1233, p 1233 (2020)
Volume 11
Issue 10
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::248eab97a8b04c07b001b9146ee400ae
http://europepmc.org/articles/PMC7589744

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Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype–phenotype analysis in moderate cases

Autor: Patricio O. Craig, Viviana Karina Dalamon, Raúl Reynoso Diamante, Enrique Mansilla, Ana Belén Elgoyhen, María E. Barteik, Bibiana Paoli, Vanesa Lotersztein, M. Florencia Wernert, Carlos Curet

Publikováno v: Molecular Biology Reports. 40:6945-6955

This paper presents a mutation as well as a genotype-phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf patients (104 familial and 372 sporadic cases). Most of them were of prelingual onset (82

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd87775901f31b9f737f4d2710dc884
https://doi.org/10.1007/s11033-013-2814-x

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GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population

Autor: Viviana, Dalamón, Vanesa, Lotersztein, Agustina, Béhèran, Marcela, Lipovsek, Fernando, Diamante, Norma, Pallares, Liliana, Francipane, Gustavo, Frechtel, Bibiana, Paoli, Enrique, Mansilla, Vicente, Diamante, Ana Belén, Elgoyhen

Publikováno v: Audiologyneuro-otology. 15(3)

Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14c194e6e1a3d2ae7e9ef4524c099d00
https://pubmed.ncbi.nlm.nih.gov/19887791

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