Frances J.D. Smith
University of Dundee
92 Papers
682 Citations
Frances J.D. Smith is an academic researcher from University of Dundee. The author has contributed to research in topics: Pachyonychia congenita & Mutation. The author has an hindex of 41, co-authored 92 publications. Previous affiliations of Frances J.D. Smith include Yale University & Edinburgh Royal Infirmary.
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Papers
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Colin N. A. Palmer,Alan D. Irvine,Ana Terron-Kwiatkowski,Yiwei Zhao,Haihui Liao,Simon P. Lee,David Goudie,Aileen Sandilands,Linda E. Campbell,Frances J.D. Smith,Grainne M. O'Regan,Rosemarie Watson,Jo E Cecil,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Philip Fleckman,Sue Lewis-Jones,Gehan Arseculeratne,Ann Sergeant,Colin S. Munro,Brahim El Houate,Ken McElreavey,Liselotte Brydensholt Halkjaer,Hans Bisgaard,Somnath Mukhopadhyay,Somnath Mukhopadhyay,W.H. Irwin McLean +28 more
TL;DR: It is shown that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis.
2.9K
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
Frances J.D. Smith,Alan D. Irvine,Ana Terron-Kwiatkowski,Aileen Sandilands,Linda E. Campbell,Yiwei Zhao,Haihui Liao,Alan Evans,David Goudie,Sue Lewis-Jones,Gehan Arseculeratne,Colin S. Munro,Ann Sergeant,Grainne M. O'Regan,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Richard B. Presland,Philip Fleckman,W.H. Irwin McLean +20 more
TL;DR: It is found that loss or reduction of this major structural protein, filaggrin, leads to varying degrees of impaired keratinization.
1K
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Aileen Sandilands,Ana Terron-Kwiatkowski,Peter R. Hull,Grainne M. O'Regan,Timothy H Clayton,Rosemarie Watson,Thomas Carrick,Alan Evans,Haihui Liao,Yiwei Zhao,Linda E. Campbell,Matthias Schmuth,Robert Gruber,Andreas R. Janecke,Peter M. Elias,Maurice A.M. van Steensel,Ivo F Nagtzaam,Michel van Geel,Peter M. Steijlen,Colin S. Munro,Daniel G. Bradley,Colin N. A. Palmer,Frances J.D. Smith,W.H. Irwin McLean,Alan D. Irvine,Alan D. Irvine +25 more
TL;DR: It is shown that the common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases are ancestral variants carried on conserved haplotypes, and a strategy for full sequencing of this large, highly repetitive gene is reported.
696
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome
Dawn H. Siegel,G H S Ashton,Homero Penagos,James V. Lee,Heidi S. Feiler,Kirk C. Wilhelmsen,Andrew P. South,Frances J.D. Smith,Alan R. Prescott,V Wessagowit,Noritaka Oyama,Masashi Akiyama,Daifullah Al Aboud,Khalid A Al Aboud,Ahmad Al Githami,Khalid Al Hawsawi,Abla Al Ismaily,Raouf Al-Suwaid,David J. Atherton,Ruggero Caputo,Jo David Fine,Ilona J. Frieden,Elaine Fuchs,Richard M. Haber,Takashi Harada,Yasuo Kitajima,Susan B. Mallory,Hideoki Ogawa,Sedef Şahin,Hiroshi Shimizu,Yasushi Suga,Gianluca Tadini,Kikuo Tsuchiya,Colin Wiebe,Fenella Wojnarowska,Adel B. Zaghloul,Takahiro Hamada,R. Mallipeddi,Robin A.J. Eady,W.H. Irwin McLean,John A. McGrath,Ervin H. Epstein +41 more
TL;DR: Kindler syndrome is, to the authors' knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin- ECM linkage.
351
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Liat Samuelov,Ofer Sarig,Robert M. Harmon,Debora Rapaport,Akemi Ishida-Yamamoto,Ofer Isakov,Jennifer L. Koetsier,Andrea Gat,Ilan Goldberg,Reuven Bergman,Reuven Bergman,Ronen Spiegel,O. Eytan,O. Eytan,Shamir Geller,Sarit Peleg,Noam Shomron,Christabelle S M Goh,Neil J. Wilson,Frances J.D. Smith,Elizabeth Pohler,Michael A. Simpson,W.H. Irwin McLean,Alan D. Irvine,Alan D. Irvine,Mia Horowitz,John A. McGrath,Kathleen J. Green,Eli Sprecher,Eli Sprecher +29 more
TL;DR: The deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect and is linked to a number of genes encoding allergy-related cytokines.
314