255 Palmoplantar skin and keratinocytes harbouring mutant AQP5 display dysregulated actin cytoskeleton von Blaydon, D., Kelsell, D.P.

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Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing von Hutchin, T, Coy, NN, Conlon, H, Telford, E, Bromelow, K, Blaydon, D, Taylor, G, Coghill, E, Brown, S, Trembath, R, Liu, XZ, Bitner-Glindzicz, M, Mueller, R

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188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes von Ramos, L., Yousaf, Y., Kelsell, D., Blaydon, D.

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188 Is mouse paw skin a good model of human palmoplantar skin? von Del Caño, L Ramos, Dunnigan, A., Evora, A., Ahmad, U., Kelsell, D.P., Blaydon, D.

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Fabry disease: 20 novel GLA mutations in 35 families von Blaydon, Diana, Hill, Jane, Winchester, Bryan

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097 iRHOM2 regulation of loricrin in the epidermal barrier von McGinty, L., Kelsell, D.P., Blaydon, D.

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630 iRHOM2 is a key regulator of the cytoskeletal stress response von McGinty, L.A., Blaydon, D., Chikh, A., Kelsell, D.P.

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173 A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease von Murtough, S., Del Caño, L. Ramos, Delaney, P.J., Webb, C.M., Colom, B., Jones, P.H., Blaydon, D., Kelsell, D.

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083 iRHOM2-p63 pathway mediates survival and redox balance in keratinocytes von Arcidiacono, P., Webb, C.M., Blaydon, D., Chikh, A., Kelsell, D.P.

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086 Evidence for a palmoplantar-specific role for microtubules von Louis dit Picard, H., Blaydon, D., Kelsell, D.P.

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A null mutation in the Bacillus subtilis aconitase gene causes a block in Spo0A-phosphate-dependent gene expression von Craig, J E, Ford, M J, Blaydon, D C, Sonenshein, A L

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180 Mutations in FAM83G/PAWS1 cause autosomal recessive palmoplantar keratoderma with leukonychia and abundant curly hair von Maruthappu, T., McGinty, L., Blaydon, D., Duit, R., Maatta, A., O’Toole, E., Kelsell, D.P.

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RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome von Blaydon, Diana C., Etheridge, Sarah L., Risk, Janet M., Hennies, Hans-Christian, Gay, Laura J., Carroll, Rebecca, Plagnol, Vincent, McRonald, Fiona E., Stevens, Howard P., Spurr, Nigel K., Bishop, D. Timothy, Ellis, Anthony, Jankowski, Janusz, Field, John K., Leigh, Irene M., South, Andrew P., Kelsell, David P.

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Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event von TEH, Muy-Teck, BLAYDON, Diana, KELSELL, David P, CHAPLIN, Tracy, FOOT, Nicola J, SKOULAKIS, Spyros, RAGHAVAN, Manoj, HARWOOD, Catherine A, PROBY, Charlotte M, PHILPOTT, Michael P, YOUNG, Bryan D

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The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK von Blaydon, DC, Mueller, RF, Hutchin, TP, Leroy, BP, Bhattacharya, SS, Bird, AC, Malcolm, S, Bitner-Glindzicz, M

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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene von Bitner-Glindzicz, Maria, Glaser, Benjamin, Lindley, Keith J, Rutland, Paul, Blaydon, Diana, Smith, Virpi V, Milla, Peter J, Hussain, Khalid, Furth-Lavi, Judith, Cosgrove, Karen E, Shepherd, Ruth M, Barnes, Philippa D, O'Brien, Rachel E, Farndon, Peter A, Sowden, Jane, Liu, Xue-Zhong, Scanlan, Matthew J, Malcolm, Sue, Dunne, Mark J, Aynsley-Green, Albert

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Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1 von Feather, Sally A., Malcolm, Sue, Woolf, Adrian S., Wright, Victoria, Blaydon, Diana, Reid, Christopher J.D., Flinter, Frances A., Proesmans, Willem, Devriendt, Koen, Carter, Joan, Warwicker, Paul, Goodship, Timothy H.J., Goodship, Judith A.

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Severe Eye Injuries in the War in Iraq, 2003–2005 von Thach, Allen B., MD, COL(Ret.), Johnson, Anthony J., MD, LTC, Carroll, Robert B., MD, LTC, Huchun, Ava, MD, LTC, Ainbinder, Darryl J., MD, LTC, Stutzman, Richard D., MD, LTC, Blaydon, Sean M., MD, LTC, DeMartelaere, Sheri L., MD, LTC, Mader, Thomas H., MD, COL(Ret.), Slade, Clifton S., MD, COL, George, Roger K., MD, COL, Ritchey, John P., MD, LTC, Barnes, Scott D., MD, LTC, Fannin, Lilia A., MD, COL

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Original Article: Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing von Hutchin, T, Coy, N N, Conlon, H, Telford, E, Bromelow, K, Blaydon, D, Taylor, G, Coghill, E, Brown, S, Trembath, R, Liu, X Z, Bitner-Glindzicz, M, Mueller, R

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Bilateral Lacrimal Gland Disease von Tang, Sunny X., BA, Lim, Renelle P., MD, Al-Dahmash, Saad, MD, Blaydon, Sean M., MD, Cho, Raymond I., MD, Choe, Christina H., MD, Connor, Michael A., MD, Durairaj, Vikram D., MD, Eckstein, Lauren A., MD, Hayek, Brent, MD, Langer, Paul D., MD, Lelli, Gary J., MD, Mancini, Ronald, MD, Rabinovich, Alexander, MD, Servat, Javier, MD, Shore, John W., MD, Sokol, Jason A., MD, Tsirbas, Angelo, MD, Wladis, Edward J., MD, Wu, Albert Y., MD, Shields, Jerry A., MD, Shields, Carol, MD, Shinder, Roman, MD

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