Search Results - "Kelsell, D. P."

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

“…Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most deafness results from…”
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Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients by 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.

“…Summary Background  Keratitis–ichthyosis–deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss…”
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A profile of lipid dysregulation in harlequin ichthyosis by 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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Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas by EDMUNDS, S. C, CREE, I. A, DI NICOLANTONIO, F, HUNGERFORD, J. L, HURREN, J. S, KELSELL, D. P

“…The recent discovery of activating mutations in the BRAF gene in many cutaneous melanomas led us to screen the genomic sequence of BRAF exons 11 and 15 in a…”
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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome by Uzumcu, A, Norgett, E E, Dindar, A, Uyguner, O, Nisli, K, Kayserili, H, Sahin, S E, Dupont, E, Severs, N J, Leigh, I M, Yuksel-Apak, M, Kelsell, D P, Wollnik, B

“…Background: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell…”
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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa by 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

“…We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated…”
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A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss by Matos, T.D., Caria, H., Simões-Teixeira, H., Aasen, T., Dias, O., Andrea, M., Kelsell, D.P., Fialho, G.

“…Mutations in GJB2 gene (encoding connexin 26) are the most common cause of hereditary non-syndromic sensorineural hearing loss (NSSHL) in different…”
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Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis by Scott, C. A., O'Toole, E. A., Mohungoo, M. J., Messenger, A., Kelsell, D. P.

“…Summary Erythrokeratoderma variabilis (EKV) is characterized by fixed hyperkeratotic plaques and transient erythema. Mutations in the genes GJB3 and GJB4,…”
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Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival by Common, J E A, Di, W-L, Davies, D, Kelsell, D P

“…Little or no endogenous Cx26 was detected in the NIH 3T3 fibroblast cells by immunocytochemistry, but previous experiments demonstrated a high cell death count…”
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Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31 by Di, Wei-Li, Rugg, Elizabeth L., Leigh, Irene M., Kelsell, David P.

“…Recent genetic studies have demonstrated the importance of epidermal gap junctions with mutations in four β-connexins associated with autosomal dominant…”
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A novel ABCA12 mutation underlying a case of Harlequin ichthyosis by Rajpar, S.F., Cullup, T., Kelsell, D.P., Moss, C.

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Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype by 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.

“…Summary Background Arrhythmogenic cardiomyopathy (AC) is an inherited, frequently underdiagnosed disorder, which can predispose individuals to sudden cardiac…”
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Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis by Thomas, A.C., Sinclair, C., Mahmud, N., Cullup, T., Mellerio, J.E., Harper, J., Dale, B.A., Turc-Carel, C., Hohl, D., McGrath, J.A., Vahlquist, A., Hellstrom-Pigg, M., Ganemo, A., Metcalfe, K., Mein, C.A., O'Toole, E.A, Kelsell, D.P.

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Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy by Ng, K. E., Delaney, P. J., Thenet, D., Murtough, S., Webb, C. M., Zaman, N., Tsisanova, E., Mastroianni, G., Walker, S. L. M., Westaby, J. D., Pennington, D. J., Pink, R., Kelsell, D. P., Tinker, A.

“…The study of a desmoglein 2 murine model of arrhythmogenic cardiomyopathy revealed cardiac inflammation as a key early event leading to fibrosis…”
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Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population by Sinclair, C., O'Toole, E.A., Paige, D., El Bashir, H., Robinson, J., Dobson, R., Lench, N., Stevens, H.P., Hitman, G.A., Booy, R., Mein, C.A., Kelsell, D.P.

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

“…Summary A whole array of cutaneous syndromes is associated with distinct dominant mutations in GJB2 encoding the gap junction protein connexin 26 (Cx26),…”
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Hereditary 'white nails': a genetic and structural study by Norgett, E.E., Wolf, F., Balme, B., Leigh, I.M., Perrot, H., Kelsell, D.P., Haftek, M.

“…Summary Background  Hereditary subtotal leuconychia is a rare nail disease. The gene(s) underlying this phenotype is (are) not known. Immunohistochemical and…”
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Localization of a Gene ( MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43 by Alam, N.A., Bevan, S., Churchman, M., Barclay, E., Barker, K., Jaeger, E.E.M., Nelson, H.M., Healy, E., Pembroke, A.C., Friedmann, P.S., Dalziel, K., Calonje, E., Anderson, J., August, P.J., Davies, M.G., Felix, R., Munro, C.S., Murdoch, M., Rendall, J., Kennedy, S., Leigh, I.M., Kelsell, D.P., Tomlinson, I.P.M., Houlston, R.S.

“…Dominant transmission of multiple uterine and cutaneous smooth-muscle tumors is seen in the disorder multiple leiomyomatosis (ML). We undertook a genomewide…”
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A novel homozygous nonsense mutation in CAST associated with PLACK syndrome by Temel, Şehime Gülsün, Karakaş, B., Şeker, Ü., Turkgenç, B., Zorlu, Ö., Sarıcaoğlu, H., Oğur, Ç., Kütük, Ö., Kelsell, D. P., Yakıcıer, M. C.

“…Peeling skin syndrome is a heterogeneous group of rare disorders. P eeling skin, l eukonychia, a cral punctate keratoses, c heilitis and k nuckle pads (PLACK…”
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A novel hearing loss-related mutation occurring in the GJB2 basal promoter by Matos, T D, Caria, H, Simões-Teixeira, H, Aasen, T, Nickel, R, Jagger, D J, O’Neill, A, Kelsell, D P, Fialho, G

“…Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic…”
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