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Isaac E García Selected Research

Keratitis, Ichthyosis, and Deafness (KID) Syndrome

1/2019The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening.
5/2015Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.

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Isaac E García Research Topics

Disease

3Deafness (Deaf Mutism)
01/2019 - 05/2016
2Keratitis, Ichthyosis, and Deafness (KID) Syndrome
01/2019 - 05/2015
2Keratitis-Ichthyosis-Deafness Syndrome
03/2016 - 05/2015
1Autistic Disorder (Autism)
08/2022
1Ichthyosis (Xeroderma)
01/2019
1Keratitis
01/2019
1Inborn Genetic Diseases (Disease, Hereditary)
01/2018
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
05/2016
1Cataract (Cataracts)
05/2016
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
09/2010

Drug/Important Bio-Agent (IBA)

3Connexin 26IBA
01/2019 - 05/2015
2ConnexinsIBA
01/2018 - 05/2015
2Connexin 43 (Connexin43)IBA
05/2016 - 05/2015
2CalciumIBA
03/2016 - 09/2010
1TRPC6 Cation ChannelIBA
08/2022
1Divalent CationsIBA
01/2018
1Inositol 1,4,5-TrisphosphateIBA
09/2010