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Sandilands, Aileen

Dr

  • 6995 Citations
  • 37 h-Index
19952018
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  • 10 Similar Profiles
Lenses Medicine & Life Sciences
Mutation Medicine & Life Sciences
Atopic Dermatitis Medicine & Life Sciences
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Cytoskeleton Medicine & Life Sciences
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Genes Medicine & Life Sciences
Vimentin Medicine & Life Sciences

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Projects 2013 2014

Confirmation of New Gene Variants for Atopic Eczema Identified Through Whole Exome Sequencing

Sandilands, A.

Anonymous Trust

1/02/13 → 31/01/14

Project: Research

Research Output 1995 2018

3 Citations (Scopus)
104 Downloads (Pure)

A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

Yu, X., Chen, F., Ni, C., Zhang, G., Zheng, L., Zhang, J., Li, C., Sandilands, A., Yao, Z. & Li, M., Jan 2018, In : Journal of Investigative Dermatology. 138, 1, p. 230-233 4 p.

Research output: Contribution to journal › Letter

Open Access
File
9 Citations (Scopus)
182 Downloads (Pure)

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Wong, X. F. C. C., Denil, S. L. I. J., Foo, J. N., Chen, H., Ling Tay, A. S., Haines, R. L., Tang, M. B. Y., McLean, W. H. I., Sandilands, A., Smith, F. J. D., Lane, E. B., Liu, J. & Common, J. E. A., Feb 2018, In : Journal of Allergy and Clinical Immunology. 141, 2, p. 814-816 3 p.

Research output: Contribution to journal › Letter

Open Access
File
Atopic Dermatitis
Genes
Costs and Cost Analysis
Polymerase Chain Reaction
filaggrin
5 Citations (Scopus)
115 Downloads (Pure)

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis

Bochner, R., Samuelov, L., Sarig, O., Li, Q., Adase, C. A., Isakov, O., Malchin, N., Vodo, D., Shayevitch, R., Peled, A., Yu, B. D., Fainberg, G., Warshauer, E., Adir, N., Erez, N., Gat, A., Gottlieb, Y., Rogers, T., Pavlovsky, M., Goldberg, I. & 9 others, Shomron, N., Sandilands, A., Campbell, L. E., MacCallum, S., McLean, W. H. I., Ast, G., Gallo, R. L., Uitto, J. & Sprecher, E., Feb 2017, In : Journal of Investigative Dermatology. 137, 2, p. 385-393 9 p.

Research output: Contribution to journal › Article

Open Access
File
Ichthyosis
Calpain
Skin
Hair Follicle
Exfoliative Dermatitis
11 Citations (Scopus)
99 Downloads (Pure)

Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

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., 2 Apr 2017, In : British Journal of Dermatology.

Research output: Contribution to journal › Article

Open Access
File
Desmoglein 1
Palmoplantar Keratoderma
Genetic Testing
Phenotype
Mutation
4 Citations (Scopus)

Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis

Mizuno, O., Nomura, T., Ohguchi, Y., Suzuki, S., Nomura, Y., Hamade, Y., Hoshina, D., Sandilands, A., Akiyama, M., McLean, W. H. I., Abe, R. & Shimizu, H., Apr 2015, In : Journal of the European Academy of Dermatology and Venereology. 29, 4, p. 805-808 4 p.

Research output: Contribution to journal › Article

Anaphylaxis
Exercise
Food
Mutation
Genes

Activities 2016 2016

  • 1 Editorial activity

Scientific Reports (Journal)

Aileen Sandilands (Editorial board member)
27 Sep 2016

Activity: Publication peer-review and editorial work types › Editorial activity

Press / Media

Rare skin disease gene discovered

Elizabeth Pohler, Alan Irvine, Toshifumi Nomura, John A. McGrath, W. H. Irwin McLean, Neil Wilson, Frances J. D. Smith, Aileen Sandilands, Christian Cole, Alan Evans, Sara J. Brown & David R. Goudie

15/10/12

1 item of Media coverage

Press/Media: Research

Thesis

Identification and characterization of the gene responsible for the matted mouse phenotype

Author: Goh, C., 2013

Supervisor: Sandilands, A. (Supervisor), McLean, W. (Supervisor) & Crouch, D. (Supervisor)

Student thesis: Doctoral Thesis › Doctor of Philosophy

File