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

Prognostic value of mutations in isocitrate dehydrogenase 1 (IDH1) and reverse telomerase transcriptase (TERT) in Argentine patients` gliomas

Autor: Pedro Tomás Funes, Daniela Moggia, Diana Lidia Parma, Marcela Ferrer, Florencia Giliberto, Irene Szijan

Publikováno v: ARS Medica, Vol 46, Iss 1 (2021)

Background and aim: Gliomas are the most common primary brain tumors, and they are classified according to their histopathological and genetic features. Tumorigenesis depends on alterations in different genes. The aim of this study was to identify mu

Externí odkaz: https://doaj.org/article/42acf2c33eb14e7cbf817c588c0d4679

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
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

Analysis of complex structural variants in the DMD gene in one family

Autor: Chiara Mazzanti, Liliana Francipane, Carlos Daniel de Brasi, Leonela Natalia Luce, Florencia Giliberto, Sebastián Menazzi, Pablo Lapunzina, Irene Szijan, Micaela Carcione, Liliana Carmen Rossetti, Julián Nevado, M. M. Abelleyro, Pamela Radic

Publikováno v: Neuromuscular disorders : NMD. 31(3)

This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f72edb5b82728a83bb2bea130fd931f
https://pubmed.ncbi.nlm.nih.gov/33451931

Metagenomic analysis of gut microbiota in non-treated plaque psoriasis patients stratified by disease severity: development of a new Psoriasis-Microbiome Index

Autor: Leonela Natalia Luce, Hernán Dopazo, Florencia Giliberto, Ignacio Dei-Cas, Alberto Penas-Steinhardt

Publikováno v: Scientific Reports
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)

Psoriasis is an immune-mediated skin disorder. Imbalance of gut microbial populations has been implicated in many diseases. We aimed to investigate whether there were differences in gut microbiota in psoriasis patients vs non-psoriasis controls and b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::494aea56070018c4b091fbc432d0f774
https://pubmed.ncbi.nlm.nih.gov/32728075