Sandilands, Aileen

Dr

  • 7169 Citations
  • 37 h-Index
19952018

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2017

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 journalArticle

Open Access
File
5 Citations (Scopus)
150 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 journalArticle

Open Access
File
12 Citations (Scopus)
142 Downloads (Pure)
2015

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 journalArticle

4 Citations (Scopus)
2014

A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris

Ohguchi, Y., Nomura, T., Suzuki, S., Mizuno, O., Nomura, Y., Nemoto-Hasebe, I., Okamoto, H., Sandilands, A., Akiyama, M., Irwin McLean, W. H. & Shimizu, H., 2014, In : European Journal of Dermatology. 24, 4, p. 491-493 3 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

Cole, C., Kroboth, K., Schurch, N. J., Sandilands, A., Sherstnev, A., O'Regan, G. M., Watson, R. M., McLean, W. H. I., Barton, G. J., Irvine, A. D. & Brown, S. J., Jul 2014, In : Journal of Allergy and Clinical Immunology. 134, 1, p. 82-91 10 p.

Research output: Contribution to journalArticle

Open Access
File
72 Citations (Scopus)
174 Downloads (Pure)
2013

Generation and characterisation of keratin 7 (K7) knockout mice

Sandilands, A., Smith, F. J. D., Lunny, D. P., Campbell, L. E., Davidson, K. M., MacCallum, S. F., Corden, L. D., Christie, L., Fleming, S., Lane, E. B. & McLean, W. H. I., 31 May 2013, In : PLoS ONE. 8, 5, 11 p., e64404.

Research output: Contribution to journalArticle

16 Citations (Scopus)

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

Saunders, S. P., Goh, C. S. M., Brown, S. J., Palmer, C. N. A., Porter, R. M., Cole, C., Campbell, L. E., Gierlinski, M., Barton, G. J., Schneider, G., Balmain, A., Prescott, A. R., Weidinger, S., Baurecht, H., Kabesch, M., Gieger, C., Lee, Y-A., Tavendale, R., Mukhopadhyay, S., Turner, S. W. & 14 others, Madhok, V. B., Sullivan, F. M., Relton, C., Burn, J., Meggitt, S., Smith, C. H., Allen, M. A., Barker, J. N. W. N., Reynolds, N. J., Cordell, H. J., Irvine, A. D., McLean, W. H. I., Sandilands, A. & Fallon, P. G., Nov 2013, In : Journal of Allergy and Clinical Immunology. 132, 5, p. 1121-1129 9 p.

Research output: Contribution to journalArticle

74 Citations (Scopus)
2012

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency

Kezic, S., O'Regan, G. M., Lutter, R., Jakasa, I., Koster, E. S., Saunders, S., Caspers, P., Kemperman, P. M. J. H., Puppels, G. J., Sandilands, A., Chen, H., Campbell, L. E., Kroboth, K., Watson, R., Fallon, P. G., McLean, W. H. I. & Irvine, A. D., Apr 2012, In : Journal of Allergy and Clinical Immunology. 129, 4, p. 1031-U542 10 p.

Research output: Contribution to journalArticle

133 Citations (Scopus)

Filaggrin mutations: Prognosis and response to therapy overtime

Margolis, D. J., Mitra, N., Sandilands, A., McLean, I. & Rebbeck, T., May 2012, In : Journal of Investigative Dermatology. 132, p. S41-S41 1 p.

Research output: Contribution to journalArticle

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Pohler, E., Mamai, O., Hirst, J., Zamiri, M., Horn, H., Nomura, T., Irvine, A. D., Moran, B., Wilson, N. J., Smith, F. J. D., Goh, C. S. M., Sandilands, A., Cole, C., Barton, G. J., Evans, A. T., Shimizu, H., Akiyama, M., Suehiro, M., Konohana, I., Shboul, M. & 12 others, Teissier, S., Boussofara, L., Denguezli, M., Saad, A., Gribaa, M., Dopping-Hepenstal, P. J., McGrath, J. A., Brown, S. J., Goudie, D. R., Reversade, B., Munro, C. S. & McLean, W. H. I., Nov 2012, In : Nature Genetics. 44, 11, p. 1272-1276 5 p.

Research output: Contribution to journalArticle

45 Citations (Scopus)

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

Brown, S. J., Kroboth, K., Sandilands, A., Campbell, L. E., Pohler, E., Kezic, S., Cordell, H. J., McLean, W. H. I. & Irvine, A. D., Jan 2012, In : Journal of Investigative Dermatology. 132, 1, p. 98-104 7 p.

Research output: Contribution to journalArticle

Open Access
File
108 Citations (Scopus)
122 Downloads (Pure)

The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort

Margolis, D. J., Apter, A. J., Gupta, J., Hoffstad, O., Papadopoulos, M., Campbell, L. E., Sandilands, A., McLean, W. H. I., Rebbeck, T. R. & Mitra, N., 2012, In : Journal of Allergy and Clinical Immunology. 130, 4, p. 912-917 6 p.

Research output: Contribution to journalArticle

102 Citations (Scopus)
2011

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

Gruber, R., Elias, P. M., Crumrine, D., Lin, T-K., Brandner, J. M., Hachem, J-P., Presland, R. B., Fleckman, P., Janecke, A. R., Sandilands, A., McLean, W. H. I., Fritsch, P. O., Mildner, M., Tschachler, E. & Schmuth, M., May 2011, In : American Journal of Pathology. 178, 5, p. 2252-2263 12 p.

Research output: Contribution to journalArticle

151 Citations (Scopus)

Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity

Kezic, S., O'Regan, G. M., Yau, N., Sandilands, A., Chen, H., Campbell, L. E., Kroboth, K., Watson, R., Rowland, M., McLean, W. H. I. & Irvine, A. D., 2011, In : Allergy. 66, 7, p. 934-940 7 p.

Research output: Contribution to journalArticle

155 Citations (Scopus)

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis

Winge, M. C. G., Bilcha, K. D., Lieden, A., Shibeshi, D., Sandilands, A., Wahlgren, C-F., McLean, W. H. I., Nordenskjold, M. & Bradley, M., Nov 2011, In : British Journal of Dermatology. 165, 5, p. 1074-1080 7 p.

Research output: Contribution to journalArticle

63 Citations (Scopus)

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations

Chen, H., Common, J. E. A., Haines, R. L., Balakrishnan, A., Brown, S. J., Goh, C. S. M., Cordell, H. J., Sandilands, A., Campbell, L. E., Kroboth, K., Irvine, A. D., Goh, D. L. M., Tang, M. B. Y., van Bever, H. P., Giam, Y. C., McLean, W. H. I. & Lane, E. B., Jul 2011, In : British Journal of Dermatology. 165, 1, p. 106-114 9 p.

Research output: Contribution to journalArticle

81 Citations (Scopus)
2010

Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes

O'Regan, G. M., Kemperman, P. M. J. H., Sandilands, A., Chen, H., Campbell, L. E., Kroboth, K., Watson, R., Rowland, M., Puppels, G. J., McLean, W. H. I., Caspers, P. J. & Irvine, A. D., Sep 2010, In : Journal of Allergy and Clinical Immunology. 126, 3, p. 574-U270 8 p.

Research output: Contribution to journalArticle

96 Citations (Scopus)
2009

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations

Hsu, C-K., Akiyama, M., Nemoto-Hasebe, I., Nomura, T., Sandilands, A., Chao, S-C., Lee, J. Y-Y., Sheu, H-M., McLean, W. H. I. & Shimizu, H., Aug 2009, In : British Journal of Dermatology. 161, 2, p. 448-451 4 p.

Research output: Contribution to journalArticle

28 Citations (Scopus)

Clinical severity correlates with impaired barrier in filaggrin-related eczema

Nemoto-Hasebe, I., Akiyama, M., Nomura, T., Sandilands, A., McLean, W. H. I. & Shimizu, H., Mar 2009, In : Journal of Investigative Dermatology. 129, 3, p. 682-689 8 p.

Research output: Contribution to journalArticle

124 Citations (Scopus)
61 Citations (Scopus)
132 Downloads (Pure)

Filaggrin in atopic dermatitis (Reprinted from J Allergy Clin Immunol vol 122, pg 689-93, 2008)

O'Regan, G. M., Sandilands, A., McLean, W. H. I. & Irvine, A. D., Sep 2009, In : Journal of Allergy and Clinical Immunology. 124, 3, p. R2-R6 5 p.

Research output: Contribution to journalArticle

130 Citations (Scopus)

Filaggrin in the frontline: role in skin barrier function and disease

Sandilands, A., Sutherland, C., Irvine, A. D. & McLean, W. H. I., 1 May 2009, In : Journal of Cell Science. 122, 9, p. 1285-1294 10 p.

Research output: Contribution to journalArticle

389 Citations (Scopus)

FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema

Nemoto-Hasebe, I., Akiyama, M., Nomura, T., Sandilands, A., McLean, W. H. . I. & Shimizu, H., Dec 2009, In : British Journal of Dermatology. 161, 6, p. 1387-1390 4 p.

Research output: Contribution to journalArticle

54 Citations (Scopus)

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

Oji, V., Seller, N., Sandilands, A., Gruber, R., Gerss, J., Hüffmeier, U., Hamm, H., Emmert, S., Aufenvenne, K., Metze, D., Luger, T., Loser, K., Hausser, I., Traupe, H. & McLean, W. H. I., 2009, In : British Journal of Dermatology. 160, 4, p. 771-781 11 p.

Research output: Contribution to journalArticle

23 Citations (Scopus)
2008

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Weidinger, S., Baurecht, H., Wagenpfeil, S., Henderson, J., Novak, N., Sandilands, A., Chen, H., Rodriguez, E., O'Regan, G. M., Watson, R., Liao, H., Zhao, Y., Barker, J. N. W. N., Allen, M., Reynolds, N., Meggitt, S., Northstone, K., Smith, G. D., Strobl, C., Stahl, C. & 10 others, Kneib, T., Klopp, N., Bieber, T., Behrendt, H., Palmer, C. N. A., Wichmann, H. -E., Ring, J., Illig, T., McLean, W. H. I. & Irvine, A. D., Sep 2008, In : Journal of Allergy and Clinical Immunology. 122, 3, p. 560-568 9 p.

Research output: Contribution to journalArticle

62 Citations (Scopus)

Filaggrin null mutations and childhood atopic eczema: a population-based case-control study

Brown, S. J., Relton, C. L., Liao, H., Zhao, Y., Sandilands, A., Wilson, I. J., Burn, J., Reynolds, N. J., McLean, W. H. I. & Cordell, H. J., Apr 2008, In : Journal of Allergy and Clinical Immunology. 121, 4, p. 940-946.e3 7 p.

Research output: Contribution to journalArticle

91 Citations (Scopus)

Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan

Nomura, T., Akiyama, M., Sandilands, A., Nemoto-Hasebe, I., Sakai, K., Nagasaki, A., Ota, M., Hata, H., Evans, A. T., Palmer, C. N. A., Shimizu, H. & McLean, W. H. I., Jun 2008, In : Journal of Investigative Dermatology. 128, 6, p. 1436-1441 6 p.

Research output: Contribution to journalArticle

102 Citations (Scopus)

Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris

Chen, H., Ho, J. C. C., Sandilands, A., Chan, Y. C., Giam, Y. C., Evans, A. T., Lane, E. B. & McLean, W. H. I., Jul 2008, In : Journal of Investigative Dermatology. 128, 7, p. 1669-1675 7 p.

Research output: Contribution to journalArticle

43 Citations (Scopus)
2007

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Sandilands, A., Terron-Kwiatkowski, A., Hull, P. R., O'Regan, G. M., Clayton, T. H., Watson, R. M., Carrick, T., Evans, A. T., Liao, H., Zhao, Y., Campbell, L. E., Schmuth, M., Gruber, R., Janecke, A. R., Elias, P. M., van Steensel, M., Nagtzaam, I., van Geel, M., Steijlen, P. M., Munro, C. S. & 5 others, Bradley, D. G., Palmer, C. N. A., Smith, F. J. D., McLean, W. H. I. & Irvine, A. D., 2007, In : Nature Genetics. 39, 5, p. 650-654 5 p.

Research output: Contribution to journalArticle

446 Citations (Scopus)

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis

Sandilands, A., Smith, F. J. D., Irvine, A. D. & McLean, W. H. I., Jun 2007, In : Journal of Investigative Dermatology. 127, 6, p. 1282-1284 3 p.

Research output: Contribution to journalArticle

95 Citations (Scopus)

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

Nomura, T., Sandilands, A., Akiyama, M., Liao, H., Evans, A. T., Sakai, K., Ota, M., Sugiura, H., Yamamoto, K., Sato, H., Palmer, C. N. A., Smith, F. J. D., McLean, W. H. I. & Shimizu, H., 2007, In : Journal of Allergy and Clinical Immunology. 119, 2, p. 434-440 7 p.

Research output: Contribution to journalArticle

165 Citations (Scopus)
2006

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Palmer, C. N. A., Irvine, A. D., Terron-Kwiatkowski, A., Zhao, Y., Liao, H., Lee, S. P., Goudie, D. R., Sandilands, A., Campbell, L. E., Smith, F. J. D., O'Regan, G. M., Watson, R. M., Cecil, J. E., Bale, S. J., Compton, J. G., DiGiovanna, J. J., Fleckman, P., Lewis-Jones, S., Arseculeratne, G., Sergeant, A. & 7 others, Munro, C. S., El Houate, B., McElreavey, K., Halkjaer, L. B., Bisgaard, H., Mukhopadhyay, S. & McLean, W. H. I., Apr 2006, In : Nature Genetics. 38, 4, p. 441-446 6 p.

Research output: Contribution to journalArticle

1907 Citations (Scopus)

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Smith, F. J. D., Irvine, A. D., Terron-Kwiatkowski, A., Sandilands, A., Campbell, L. E., Zhao, Y., Liao, H., Evans, A. T., Goudie, D. R., Lewis-Jones, S., Arseculeratne, G., Munro, C. S., Sergeant, A., O'Regan, G., Bale, S. J., Compton, J. G., DiGiovanna, J. J., Presland, R. B., Fleckman, P. & McLean, W. H. I., 2006, In : Nature Genetics. 38, 3, p. 337-342 6 p.

Research output: Contribution to journalArticle

697 Citations (Scopus)

Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis

Sandilands, A., O'Regan, G. M., Liao, H., Zhao, Y., Terron-Kwiatkowski, A., Watson, R. M., Cassidy, A. J., Goudie, D. R., Smith, F. J. D., McLean, W. H. I. & Irvine, A. D., 2006, In : Journal of Investigative Dermatology. 126, 8, p. 1770-1775 6 p.

Research output: Contribution to journalArticle

177 Citations (Scopus)
2005

Specific interaction between lens MIP/Aquaporin-0 and two members of the γ-crystallin family

Fan, J., Fariss, R. N., Purkiss, A. G., Slingsby, C., Sandilands, A., Quinlan, R., Wistow, G. & Chepelinsky, A. B., 25 Jan 2005, In : Molecular Vision. 11, p. 76-87 12 p.

Research output: Contribution to journalArticle

26 Citations (Scopus)
2004

Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton

Sandilands, A., Wang, X., Hutcheson, A. M., James, J., Prescott, A. R., Wegener, A., Pekny, M., Gong, X. & Quinlan, R. A., 1 Jan 2004, In : Experimental Eye Research. 78, 1, p. 109-123 15 p.

Research output: Contribution to journalArticle

39 Citations (Scopus)
2003

Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract

Sandilands, A., Prescott, A. R., Wegener, A., Zoltoski, R. K., Hutcheson, A. M., Masaki, S., Kuszak, J. R. & Quinlan, R. A., Mar 2003, In : Experimental Eye Research. 76, 3, p. 385-391 7 p.

Research output: Contribution to journalArticle

70 Citations (Scopus)
2002

Altered aggregation properties of mutant γ-crystallins cause inherited cataract

Sandilands, A., Hutcheson, A. M., Long, H. A., Prescott, A. R., Vrensen, G., Loster, J., Klopp, N., Lutz, R. B., Graw, J., Masaki, S., Dobson, C. M., MacPhee, C. E. & Quinlan, R. A., Nov 2002, In : The EMBO Journal. 21, 22, p. 6005-6014 10 p.

Research output: Contribution to journalArticle

114 Citations (Scopus)
2000

Up-regulation of novel intermediate filament proteins in primary fiber cells: An indicator of all vertebrate lens fiber differentiation?

Ireland, M. E., Wallace, P., Sandilands, A., Poosch, M., Kasper, M., Graw, J., Liu, A., Maisel, H., Prescott, A. R., Hutcheson, A. M., Goebel, D. & Quinlan, R. A., 1 Jan 2000, In : Anatomical Record. 258, 1, p. 25-33 9 p.

Research output: Contribution to journalArticle

26 Citations (Scopus)
1999

The eye lens cytoskeleton

Quinlan, R. A., Sandilands, A., Procter, J. E., Prescott, A. R., Hutcheson, A. M., Dahm, R., Gribbon, C., Wallace, P. & Carter, J. M., May 1999, In : Eye (Basingstoke). 13, 3, p. 409-416 8 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)
1998

Three murine cataract mutants (Cat2) are defective in different γ- crystallin genes

Klopp, N., Favor, J., Löster, J., Lutz, R. B., Neuhäuser-Klaus, A., Prescott, A., Pretsch, W., Quinlan, R. A., Sandilands, A., Vrensen, G. F. J. M. & Graw, J., 1 Sep 1998, In : Genomics. 52, 2, p. 152-158 7 p.

Research output: Contribution to journalArticle

60 Citations (Scopus)
1996

The intermediate filament cytoskeleton of the lens: An ever changing network through development and differentiation

Prescott, A. R., Sandilands, A., Hutcheson, A. M., Carter, J. M. & Quinlan, R. A., 1 Jan 1996, In : Ophthalmic Research. 28, 1, p. 58-61 4 p.

Research output: Contribution to journalArticle

28 Citations (Scopus)
1995

Filensin is proteolytically processed during lens fiber cell differentiation by multiple independent pathways

Sandilands, A., Prescott, A. R., Hutcheson, A. M., Quinlan, R. A., Casselman, J. T. & FitzGerald, P. G., 1 Jan 1995, In : European Journal of Cell Biology. 67, 3, p. 238-253 16 p.

Research output: Contribution to journalArticle

56 Citations (Scopus)

Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation

Sandilands, A., Prescott, A. R., Carter, J. M., Hutcheson, A. M., Quinlan, R. A., Richards, J. & Fitzgerald, P. G., 1 Apr 1995, In : Journal of Cell Science. 108, 4, p. 1397-1406 10 p.

Research output: Contribution to journalArticle

108 Citations (Scopus)