1 - 25 of 49 results for author:"Kelsell D.P." in Literature citations
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| The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. Cabral R.M., Tattersall D., Patel V., McPhail G.D., Hatzimasoura E., Abrams D.J., South A.P., Kelsell D.P. J. Cell. Sci. 125:2853-2861(2012) · Mapped (8) |
| RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Blaydon D.C., Etheridge S.L., Risk J.M., Hennies H.C., Gay L.J., Carroll R., Plagnol V., McRonald F.E., Stevens H.P., Spurr N.K. et al. Am. J. Hum. Genet. 90:340-346(2012) · UniProtKB (1) · Mapped (2) |
| Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. Lambert S.R., Harwood C.A., Purdie K.J., Gulati A., Matin R.N., Romanowska M., Cerio R., Kelsell D.P., Leigh I.M., Proby C.M. Int. J. Cancer 131:E216-26(2012) · Mapped (8) |
| Inflammatory skin and bowel disease linked to ADAM17 deletion. Blaydon D.C., Biancheri P., Di W.L., Plagnol V., Cabral R.M., Brooke M.A., van Heel D.A., Ruschendorf F., Toynbee M., Walne A. et al. N. Engl. J. Med. 365:1502-1508(2011) · UniProtKB (1) · Mapped (7) |
| Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Blaydon D.C., Nitoiu D., Eckl K.M., Cabral R.M., Bland P., Hausser I., van Heel D.A., Rajpopat S., Fischer J., Oji V. et al. Am. J. Hum. Genet. 89:564-571(2011) · UniProtKB (1) · Mapped (1) |
| Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cabral R.M., Wan H., Cole C.L., Abrams D.J., Kelsell D.P., South A.P. Cell Tissue Res. 341:121-129(2010) · UniProtKB (1) · Mapped (7) |
| Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. Cabral R.M., Liu L., Hogan C., Dopping-Hepenstal P.J., Winik B.C., Asial R.A., Dobson R., Mein C.A., Baselaga P.A., Mellerio J.E. et al. J. Invest. Dermatol. 130:1543-1550(2010) · Mapped (2) |
| EKV mutant connexin 31 associated cell death is mediated by ER stress. Tattersall D., Scott C.A., Gray C., Zicha D., Kelsell D.P. Hum. Mol. Genet. 18:4734-4745(2009) · Mapped (1) |
| Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. 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. et al. Br. J. Dermatol. 160:1113-1115(2009) · Mapped (10) |
| Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Thomas A.C., Tattersall D., Norgett E.E., O'Toole E.A., Kelsell D.P. Am. J. Pathol. 174:970-978(2009) · Mapped (2) |
| A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. Matos T.D., Caria H., Simoes-Teixeira H., Aasen T., Dias O., Andrea M., Kelsell D.P., Fialho G. Hear. Res. 240:87-92(2008) · Mapped (3) |
| Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast. Ellis P.E., Cano S.D., Fear M., Kelsell D.P., Ghali L., Crow J.C., Perrett C.W., MacLean A.B. Mod. Pathol. 21:1192-1199(2008) · Mapped (8) |
| Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. 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. et al. Br. J. Dermatol. 158:611-613(2008) · Mapped (2) |
| Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. Ishii Y., Wajid M., Bazzi H., Fantauzzo K.A., Barber A.G., Blaydon D.C., Nam J.S., Yoon J.K., Kelsell D.P., Christiano A.M. J. Invest. Dermatol. 128:867-870(2008) · Mapped (5) |
| A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. Matos T.D., Caria H., Simoes-Teixeira H., Aasen T., Nickel R., Jagger D.J., O'Neill A., Kelsell D.P., Fialho G. J. Med. Genet. 44:721-725(2007) · UniProtKB (1) · Mapped (2) |
| A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. Man Y.K., Trolove C., Tattersall D., Thomas A.C., Papakonstantinopoulou A., Patel D., Scott C., Chong J., Jagger D.J., O'Toole E.A. et al. J. Membr. Biol. 218:29-37(2007) · Mapped (3) |
| Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Purdie K.J., Lambert S.R., Teh M.T., Chaplin T., Molloy G., Raghavan M., Kelsell D.P., Leigh I.M., Harwood C.A., Proby C.M. et al. Genes Chromosomes Cancer 46:661-669(2007) · Mapped (8) |
| Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Mazereeuw-Hautier J., Bitoun E., Chevrant-Breton J., Man S.Y., Bodemer C., Prins C., Antille C., Saurat J.H., Atherton D., Harper J.I. et al. Br. J. Dermatol. 156:1015-1019(2007) · Mapped (3) |
| Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. Teh M.T., Blaydon D., Ghali L.R., Briggs V., Edmunds S., Pantazi E., Barnes M.R., Leigh I.M., Kelsell D.P., Philpott M.P. J. Cell. Sci. 120:330-339(2007) |
| Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. Unsworth H.C., Aasen T., McElwaine S., Kelsell D.P. Hum. Mol. Genet. 16:165-172(2007) · Mapped (1) |
| The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Blaydon D.C., Ishii Y., O'Toole E.A., Unsworth H.C., Teh M.-T., Rueschendorf F., Sinclair C., Hopsu-Havu V.K., Tidman N., Moss C. et al. |
| ABCA12 is the major harlequin ichthyosis gene. Thomas A.C., Cullup T., Norgett E.E., Hill T., Barton S., Dale B.A., Sprecher E., Sheridan E., Taylor A.E., Wilroy R.S. et al. J. Invest. Dermatol. 126:2408-2413(2006) · UniProtKB (1) · Mapped (1) |
| Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. Norgett E.E., Lucke T.W., Bowers B., Munro C.S., Leigh I.M., Kelsell D.P. J. Invest. Dermatol. 126:1651-1654(2006) · Mapped (8) |
| Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Abrams C.K., Freidin M.M., Verselis V.K., Bargiello T.A., Kelsell D.P., Richard G., Bennett M.V., Bukauskas F.F. Proc. Natl. Acad. Sci. U.S.A. 103:5213-5218(2006) · Mapped (1) |
| Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. Uzumcu A., Norgett E.E., Dindar A., Uyguner O., Nisli K., Kayserili H., Sahin S.E., Dupont E., Severs N.J., Leigh I.M. et al. J. Med. Genet. 43:e5-e5(2006) · Mapped (8) |