autosomal dominant keratitis-ichthyosis-deafness syndrome

Literature (6)

Literature for DOID 0060871: autosomal dominant keratitis-ichthyosis-deafness syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Connexins in epidermal homeostasis and skin disease., Scott CA,Tattersall D,O'Toole EA,Kelsell DP, Biochim Biophys Acta. August 1, 2012; 1818(8):0006-3002.
Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine., Levit NA,Sellitto C,Wang HZ,Li L,Srinivas M,Brink PR,White TW, J Invest Dermatol. April 1, 2015; 135(4):1523-1747.
Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y)., Lopez W,Gonzalez J,Liu Y,Harris AL,Contreras JE, J Gen Physiol. July 1, 2013; 142(1):1540-7748.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma., Youssefian L,Vahidnezhad H,Saeidian AH,Mahmoudi H,Karamzadeh R,Kariminejad A,Huang J,Li L,Jannace TF,Fortina P,Zeinali S,White TW,Uitto J, Hum Mutat. February 1, 2019; 40(2):1098-1004.
The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels., García IE,Villanelo F,Contreras GF,Pupo A,Pinto BI,Contreras JE,Pérez-Acle T,Alvarez O,Latorre R,Martínez AD,González C, J Gen Physiol. May 7, 2018; 150(5):1540-7748.
The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening., Valdez Capuccino JM,Chatterjee P,García IE,Botello-Smith WM,Zhang H,Harris AL,Luo Y,Contreras JE, J Gen Physiol. March 4, 2019; 151(3):1540-7748.

Connexins in epidermal homeostasis and skin disease., Scott CA,Tattersall D,O'Toole EA,Kelsell DP, Biochim Biophys Acta. August 1, 2012; 1818(8):0006-3002.

Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine., Levit NA,Sellitto C,Wang HZ,Li L,Srinivas M,Brink PR,White TW, J Invest Dermatol. April 1, 2015; 135(4):1523-1747.

Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y)., Lopez W,Gonzalez J,Liu Y,Harris AL,Contreras JE, J Gen Physiol. July 1, 2013; 142(1):1540-7748.

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma., Youssefian L,Vahidnezhad H,Saeidian AH,Mahmoudi H,Karamzadeh R,Kariminejad A,Huang J,Li L,Jannace TF,Fortina P,Zeinali S,White TW,Uitto J, Hum Mutat. February 1, 2019; 40(2):1098-1004.

The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels., García IE,Villanelo F,Contreras GF,Pupo A,Pinto BI,Contreras JE,Pérez-Acle T,Alvarez O,Latorre R,Martínez AD,González C, J Gen Physiol. May 7, 2018; 150(5):1540-7748.

The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening., Valdez Capuccino JM,Chatterjee P,García IE,Botello-Smith WM,Zhang H,Harris AL,Luo Y,Contreras JE, J Gen Physiol. March 4, 2019; 151(3):1540-7748.