Publications by authors named "Ana C Batissoco"

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Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea.
Jennifer Costa Leoncio, Ana Carla Batissoco, Thiago Geronimo Pires Alegria, Fernando Gomes, Luis Eduardo Soares Netto

Hum Genet· October 2025

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GJB2 c.35del variant up-regulates GJA1 gene expression and affects differentiation of human stem cells.
Ana Carla Batissoco, Dayane Bernardino Cruz, Thiago Geronimo Pires Alegria, Gerson Kobayashi, Jeanne Oiticica

Genet Mol Biol· April 2024

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Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A).
Gerson S Kobayashi, Gleiciele A Vieira-Silva, Elisa Varella-Branco, Danielle P Moreira, João Paulo F W Kitajima, Ana C Batissoco

Stem Cell Res· September 2023

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New Insights into the Identity of the DFNA58 Gene.
Larissa Reis do Nascimento, Gleiciele Alice Vieira-Silva, João Paulo Fumio Whitaker Kitajima, Ana Carla Batissoco, Karina Lezirovitz

Genes (Basel)· December 2022

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Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
Ana Carla Batissoco, Vinicius Pedroso-Campos, Eliete Pardono, Juliana Sampaio-Silva, Cindy Yukimi Sonoda

Hum Genet· April 2022

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Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.
R Salazar-Silva, Vitor Lima Goes Dantas, Leandro Ucela Alves, Ana Carla Batissoco, Jeanne Oiticica

Hum Mol Genet· December 2021

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NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.
Rodrigo Salazar-Silva, Vitor Lima Goes Dantas, Leandro Ucela Alves, Ana Carla Batissoco, Jeanne Oiticica

Hum Mol Genet· January 2021

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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Karina Lezirovitz, Gleiciele A Vieira-Silva, Ana C Batissoco, Débora Levy, Joao P Kitajima

Hum Mol Genet· June 2020

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Stem-cell therapy for hearing loss: are we there yet?
Luiz Gustavo Dufner-Almeida, Dayane Bernardino da Cruz, Regina Célia Mingroni Netto, Ana Carla Batissoco, Jeanne Oiticica

Braz J Otorhinolaryngol· September 2019

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A Cell Junctional Protein Network Associated with Connexin-26.
Ana C Batissoco, Rodrigo Salazar-Silva, Jeanne Oiticica, Ricardo F Bento, Regina C Mingroni-Netto

Int J Mol Sci· August 2018

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Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto

BMC Med Genet· May 2018

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Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Juliana Sampaio-Silva, Ana Carla Batissoco, Rafaela Jesus-Santos, Osório Abath-Neto, Luciano Cesar Scarpelli

Ann Hum Genet· January 2018

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Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family.
Karina Lezirovitz, Ana C Batissoco, Fernanda T Lima, Maria T B M Auricchio, Renata W Nonose

Gene· December 2012

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The search of a genetic basis for noise-induced hearing loss (NIHL).
Ronaldo Serafim Abreu-Silva, Daniel Rincon, Andréa Roseli Vançan Russo Horimoto, Ary Papa Sguillar, Luiz Artur Costa Ricardo, Ana Carla Batissoco

Ann Hum Biol· March 2011

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Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea.
Jeanne Oiticica, Luiz Carlos M Barboza-Junior, Ana Carla Batissoco, Karina Lezirovitz, Regina C Mingroni-Netto

J Transl Med· November 2010

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Novel OTOF mutations in Brazilian patients with auditory neuropathy.
Jihane Romanos, Lilian Kimura, Mariana Lopes Fávero, Fernanda Attanasio R Izarra, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco

J Hum Genet· July 2009

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Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Ana Carla Batissoco, Ronaldo Serafim Abreu-Silva, Maria Cristina Célia Braga, Karina Lezirovitz, Valter Della-Rosa

Ear Hear· February 2009

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Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
Karina Lezirovitz, Eliete Pardono, Maria T B de Mello Auricchio, Fernando L de Carvalho E Silva, Juliana J Lopes, Ana C Batissoco

Eur J Hum Genet· January 2008

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Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
Karina Lezirovitz, Fernanda Stávale Nicastro, Eliete Pardono, Ronaldo Serafim Abreu-Silva, Ana Carla Batissoco

J Hum Genet· October 2006

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