Below are the most recent publications written about "Connexin 26" by people in Profiles.
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Youssefian L, Naji M, Park JS, Rajabi F, Abdollahimajd F, Mahmoudi H, Kamyab-Hesari K, Ghalamkarpour F, Zabihi M, Teimoorian M, Youssefian L, Zeinali S, Vahidnezhad H, Uitto J. Ichthyosis follicularis syndromes in patients with mutations in GJB2. Clin Exp Dermatol. 2022 Aug; 47(8):1561-1566.
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Asgari T, Naji M, Mansouri P, Mahmoudi H, Zabihi M, Youssefian L, Mahdavi M, Naraghi ZS, Zeinali S, Vahidnezhad H, Uitto J. Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation. Dermatol Ther. 2020 11; 33(6):e14493.
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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. A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. Hum Mutat. 2019 02; 40(2):217-229.
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Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. J Am Acad Dermatol. 2019 Mar; 80(3):617-625.
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Mese G, Sellitto C, Li L, Wang HZ, Valiunas V, Richard G, Brink PR, White TW. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011 Dec; 22(24):4776-86.
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Lazic T, Li Q, Frank M, Uitto J, Zhou LH. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. Pediatr Dermatol. 2012 May-Jun; 29(3):349-57.
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Der Kaloustian VM, Russell L, Aradhya S, Richard G, Rosenblatt B, Melan?on S. A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features. Am J Med Genet A. 2011 Oct; 155A(10):2538-42.
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Johnston DR, Curry JM, Newborough B, Morlet T, Bartoshesky L, Lehman S, Ennis S, O'Reilly RC. Ophthalmologic disorders in children with syndromic and nonsyndromic hearing loss. Arch Otolaryngol Head Neck Surg. 2010 Mar; 136(3):277-80.
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Lazic T, Horii KA, Richard G, Wasserman DI, Antaya RJ. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? Pediatr Dermatol. 2008 Sep-Oct; 25(5):535-40.
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Lai-Cheong JE, Arita K, McGrath JA. Genetic diseases of junctions. J Invest Dermatol. 2007 Dec; 127(12):2713-25.