Publications:

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Connexin Mutations and Hereditary Diseases.

International Journal Of Molecular Sciences

Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y

Publication Date: 2022-04-12

Variant appearance in text: GJB1: Ala88Val

PubMed Link: 35457072

Variant Present in the following documents:

• Main text
• ijms-23-04255.pdf

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A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function.

Frontiers In Physiology

Ziraldo, Gaia G; Buratto, Damiano D; Kuang, Yuanyuan Y; Xu, Liang L; Carrer, Andrea A; Nardin, Chiara C; Chiani, Francesco F; Salvatore, Anna Maria AM; Paludetti, Gaetano G; Lerner, Richard A RA; Yang, Guang G; Zonta, Francesco F; Mammano, Fabio F

Publication Date: 2019

Variant appearance in text: GJB1: A88V

PubMed Link: 31263420

Variant Present in the following documents:

• fphys-10-00392.pdf

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A structural and functional comparison of gap junction channels composed of connexins and innexins.

Developmental Neurobiology

Skerrett, I Martha IM; Williams, Jamal B JB

Publication Date: 2017-05

Variant appearance in text: CMTX: A88V

PubMed Link: 27582044

Variant Present in the following documents:

• Main text
• DNEU-77-522.pdf

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Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology

García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD

Publication Date: 2016-05-24

Variant appearance in text: CMTX: A88V

PubMed Link: 27228968

Variant Present in the following documents:

• Main text

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EKV mutant connexin 31 associated cell death is mediated by ER stress.

Human Molecular Genetics

Tattersall, Daniel D; Scott, Claire A CA; Gray, Colin C; Zicha, Daniel D; Kelsell, David P DP

Publication Date: 2009-12-15

Variant appearance in text: CMTX: A88V

PubMed Link: 19755382

Variant Present in the following documents:

• Main text
• ddp436.pdf

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Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Brain Research

Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X

Publication Date: 2009-06-24

Variant appearance in text: GJB1: A88V

PubMed Link: 19230829

Variant Present in the following documents:

• Main text

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