Search Results - "Smith, F. J. D."

The molecular genetic analysis of the expanding pachyonychia congenita case collection by Wilson, N.J., O'Toole, E.A., Milstone, L.M., Hansen, C.D., Shepherd, A.A., Al-Asadi, E., Schwartz, M.E., McLean, W.H.I., Sprecher, E., Smith, F.J.D.

“…Summary Background Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma…”
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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma by Pohler, E., Huber, M., Boonen, S.E., Zamiri, M., Gregersen, P.A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W.H.I., Smith, F.J.D.

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Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis by Li, M., Li, Z., Wang, J., Ni, C., Sun, Z., Wilson, N.J., Zhang, J., Chen, F., Li, X., Du, X., Yu, H., Zhang, L., Smith, F.J.D., Zhang, G., Yao, Z.

“…Background Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical…”
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Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c) by Wee, J.S., Smith, F.J.D., Wilson, N.J., O'Toole, E.A.

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Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis by Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J.R., Aristodemou, S., McGrath, J.A., Smith, F.J.D., McLean, W.H.I., Munro, C.S., Zamiri, M.

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Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair by Smith, F.J.D., Wilson, N.J., Moss, C., Dopping-Hepenstal, P., McGrath, J.

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Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease by Reisenauer, A.K., Wordingham, S.V., York, J., Kokkonen, E.W.J., Mclean, W.H.I., Wilson, N.J., Smith, F.J.D.

“…Summary Background Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical…”
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Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma by Higgins, E., Capra, M., Schwartz, M.E., Smith, F.J.D., McLean, W.H.I., Irvine, A.D.

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Filaggrin null mutations are associated with increased asthma exacerbations in children and young adults by Basu, K., Palmer, C. N. A., Lipworth, B. J., Irwin McLean, W. H., Terron‐Kwiatkowski, A., Zhao, Y., Liao, H., Smith, F. J. D., Mitra, A., Mukhopadhyay, S.

“…Background:  Filaggrin (FLG) null mutations are important genetic predisposing factors for atopic asthma and have recently been shown to influence controller…”
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Revisiting pachyonychia congenita: a case‐cohort study of 815 patients by Samuelov, L., Smith, F.J.D., Hansen, C.D., Sprecher, E.

“…Summary Background Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B,…”
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Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation by Harris, K., Hull, P.R., Hansen, C.D., Smith, F.J.D., McLean, W.H.I., Arbiser, J.L., Leachman, S.A.

“…Summary Background  Pachyonychia congenita (PC) is a rare keratin disorder that typically presents with nail dystrophy and focal plantar keratoderma. We…”
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Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma by Zamiri, M., Smith, F.J.D., Campbell, L.E., Tetley, L., Eady, R.A.J., Hodgins, M.B., McLean, W.H.I., Munro, C.S.

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Chronic pain in pachyonychia congenita: evidence for neuropathic origin by Brill, S., Sprecher, E., Smith, F.J.D., Geva, N., Gruener, H., Nahman‐Averbuch, H., Defrin, R.

“…Summary Background Pachyonychia congenita (PC) is a rare autosomal dominant skin disease, with chronic pain being the most prominent complaint. Histological…”
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A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2 by Smith, Frances J. D., Jonkman, Marcel F., van Goor, Harry, Coleman, Carrie M., Covello, Seana P., Uitto, Jouni, McLean, W. H. Irwin

“…Type I and type II keratins form the heteropolymeric intermediate filament cytoskeleton, which is the main stress-bearing structure within epithelial cells…”
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Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB by Zamiri, M., Wilson, N.J., Mackenzie, A., Sobey, G., Leitch, C., Smith, F.J.D.

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Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes by Zamiri, M., Wilson, N.J., O'Toole, E.A., Smith, F.J.D.

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Striate palmoplantar keratoderma resulting from a missense mutation in DSG1 by Vodo, D., O'Toole, E.A., Malchin, N., Lahav, A., Adir, N., Sarig, O., Green, K.J., Smith, F.J.D., Sprecher, E.

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Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening by Lovgren, M.‐L., McAleer, M.A., Irvine, A.D., Wilson, N.J., Tavadia, S., Schwartz, M.E., Cole, C., Sandilands, A., Smith, F.J.D., Zamiri, M.

“…Summary The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms…”
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Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium by Rittié, L., Kaspar, R.L., Sprecher, E., Smith, F.J.D.

“…Summary The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing…”
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Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma by Smith, F. J. D., Kreuser‐Genis, I. M., Jury, C. S., Wilson, N. J., Terron‐Kwiatowski, A., Zamiri, M.

“…Summary Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell‐fragility disorders, and are the genetic basis of many inherited…”
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