A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome von de Zwart-Storm, E.A., van Geel, M., Veysey, E., Burge, S., Cooper, S., Steijlen, P.M., Martin, P.E., van Steensel, M.A.M.

Volltext

Skin changes in oculo‐dento‐digital dysplasia are correlated with C‐terminal truncations of connexin 43 von Vreeburg, M., de Zwart‐Storm, E.A., Schouten, M.I., Nellen, R.G.L., Marcus‐Soekarman, D., Devies, M., van Geel, M., van Steensel, M.A.M.

Volltext

A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome: A novel mutation in GJB2 causes Vohwinkel syndrome von de Zwart-Storm, E.A., van Geel, M., Veysey, E., Burge, S., Cooper, S., Steijlen, P.M., Martin, P.E., van Steensel, M.A.M.

Volltext

Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43 von Vreeburg, M., de Zwart-Storm, E.A., Schouten, M.I., Nellen, R.G.L., Marcus-Soekarman, D., Devies, M., van Geel, M., van Steensel, M.A.M.

Volltext

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva von Lucaciu, Sergiu A, Shao, Qing, Figliuzzi, Rhett, Barr, Kevin, Bai, Donglin, Laird, Dale W

Volltext

Connexins: Sensors of epidermal integrity that are therapeutic targets von Martin, Patricia E., Easton, Jennifer A., Hodgins, Malcolm B., Wright, Catherine S.

Volltext

Connexins and the Epithelial Tissue Barrier: A Focus on Connexin 26 von Garcia-Vega, Laura, O'Shaughnessy, Erin M, Albuloushi, Ahmad, Martin, Patricia E

Volltext

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss von Maslova, Ekaterina A, Orishchenko, Konstantin E, Posukh, Olga L

Volltext

Specific Cx43 phosphorylation events regulate gap junction turnover in vivo von Solan, Joell L., Lampe, Paul D.

Volltext

Syndromic and non-syndromic disease-linked Cx43 mutations von Laird, Dale W.

Volltext

The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin von Bailey, Rasheed A, Beahm, Derek L, Skerrett, I Martha

Volltext

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants von Mao, Lu, Wang, Yueqiang, An, Lei, Zeng, Beiping, Wang, Yanyan, Frishman, Dmitrij, Liu, Mengli, Chen, Yanyu, Tang, Wenxue, Xu, Hongen

Volltext

Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F von Bosen, Felicitas, Celli, Anna, Crumrine, Debra, vom Dorp, Katharina, Ebel, Philipp, Jastrow, Holger, Dörmann, Peter, Winterhager, Elke, Mauro, Theodora, Willecke, Klaus

Volltext

Lichen Planus of the Lip-Case Series and Review of the Literature von Marcu Selaru, Corina Andreea, Parlatescu, Ioanina, Tovaru, Serban, Nicolae, Carmen Larisa, Costache, Mariana, Tovaru, Mihaela

Volltext

Hereditary Hearing Impairment with Cutaneous Abnormalities von Lee, Tung-Lin, Lin, Pei-Hsuan, Chen, Pei-Lung, Hong, Jin-Bon, Wu, Chen-Chi

Volltext