Connexin Mutations in Skin Disease and Hearing Loss von Kelsell, David P., Di, Wei-Li, Houseman, Mark J.

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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma von NORGETT, Elizabeth E, HATSELL, Sarah J, CARVAJAL-HUERTA, Luis, CABEZAS, Juan-Carlos Ruiz, COMMON, John, PURKIS, Patricia E, WHITTOCK, Neil, LEIGH, Irene M, STEVENS, Howard P, KELSELL, David P

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Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing von GU, Y., DI, W. L., KELSELL, D. P., ZICHA, D.

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Human diseases: clues to cracking the connexin code? von Kelsell, David P., Dunlop, John, Hodgins, Malcolm B.

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Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis von Thomas, Anna C, Tattersall, Daniel, Norgett, Elizabeth E, O'Toole, Edel A, Kelsell, David P

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness von Kelsell, D. P, Dunlop, J, Stevens, H. P, Lench, N. J, Liang, J. N, Parry, G, Mueller, R. F, Leigh, I. M

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Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830) von Common, J. E. A., Bitner-Glindzicz, M., O'Toole, E. A., Barnes, M. R., Jenkins, L., Forge, A., Kelsell, D. P.

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Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis von Scott, C. A., O'Toole, E. A., Mohungoo, M. J., Messenger, A., Kelsell, D. P.

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Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival von Common, J E A, Di, W-L, Davies, D, Kelsell, D P

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A novel hearing loss-related mutation occurring in the GJB2 basal promoter von Matos, T D, Caria, H, Simões-Teixeira, H, Aasen, T, Nickel, R, Jagger, D J, O’Neill, A, Kelsell, D P, Fialho, G

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Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients von Mazereeuw-Hautier, J., Bitoun, E., Chevrant-Breton, J., Man, S.Y.K., Bodemer, C., Prins, C., Antille, C., Saurat, J.-H., Atherton, D., Harper, J.I., Kelsell, D.P., Hovnanian, A.

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A profile of lipid dysregulation in harlequin ichthyosis von Ip, S.C.I., Cottle, D.L., Jones, L.K., Weir, J.M., Kelsell, D.P., O'Toole, E.A., Meikle, P.J., Smyth, I.M.

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Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31 von Di, Wei-Li, Rugg, Elizabeth L., Leigh, Irene M., Kelsell, David P.

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Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype von Maruthappu, T., Posafalvi, A., Castelletti, S., Delaney, P.J., Syrris, P., O'Toole, E.A., Green, K.J., Elliott, P.M., Lambiase, P.D., Tinker, A., McKenna, W.J., Kelsell, D.P.

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Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours von Brown, V L, Proby, C M, Barnes, D M, Kelsell, D P

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Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism von Talas, Ulvi, Dunlop, John, Khalaf, Sahera, Leigh, Irene M., Kelsell, David P.

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Spotting prostate cancer von Neill, Graham W, Kelsell, David P

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Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify t... von LANGAN, Joanne E, COLE, Charlotte G, DUNHAM, Ian, FIELD, John K, RISK, Janet M, HUCKLE, Elisabeth J, BYRNE, Shaun, MCRONALD, Fiona E, ROWBOTTOM, Lynn, ELLIS, Anthony, SHAW, Joan M, LEIGH, Irene M, KELSELL, David P

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Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas von Edmunds, S C, Cree, I A, Dí Nícolantonío, F, Hungerford, J L, Hurren, J S, Kelsell, D P

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa von Leigh, I.M, Bryant, S.P, Milana, G, Kirtschig, G, Pulkkinen, L, Smith, F.J.D, McLean, W.H.I, Eady, R.A.J, Spurr, N.K, Owaribe, K, McMillan, J.R, Lane, E.B, Geddes, J.F, de Bono, A.G, Uitto, J, Wiche, G, Kelsell, D.P, Rugg, E.L

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