Fjd Smith
University of Dundee
47 Papers
264 Citations
Fjd Smith is an academic researcher from University of Dundee. The author has contributed to research in topics: Pachyonychia congenita & Palmoplantar keratoderma. The author has an hindex of 19, co-authored 47 publications.
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Papers
A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2
TL;DR: A family with PC-2 is described in which the K17 locus was excluded and linkage to the type II keratin locus on 12q was obtained, implying that this keratin is the previously unknown expression partner of K17, analogous to the K6a/K16 pair.
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The molecular genetic analysis of the expanding pachyonychia congenita case collection
Neil J. Wilson,Edel A. O'Toole,Leonard M. Milstone,Charles Hansen,A.A. Shepherd,E. Al‐Asadi,Mary E. Schwartz,Whi McLean,Eli Sprecher,Fjd Smith +9 more
TL;DR: Pachyonychia congenita is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.
Jemima E. Mellerio,Fjd Smith,James R. McMillan,Whi McLean,John A. McGrath,G. A. J. Morrison,P. Tierney,D. M. Albert,Gerhard Wiche,Irene M. Leigh,J.F. Geddes,E. B. Lane,Jouni Uitto,Robin A.J. Eady +13 more
TL;DR: Two unrelated patients, both of consanguineous parentage, who presented with cutaneous blistering and a hoarseness and stridor in infancy are reported, and the identification of mutations in PLEC1 may be predictive for the future development of muscular dystrophy.
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Achilles tendon rupture and sciatica: a possible correlation.
TL;DR: A highly significant association between Achilles tendon rupture and sciatica is found, and it is proposed that this association could be due to impaired afferent signals from the lower leg, or to similar collagen or vascular anomalies of the vertebral disc and the Achilles tendon.
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
TL;DR: A review of the literature on IBS indicates that E493K is the most commonly reported mutation to date and might represent a mutational hotspot for this disease.
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