Research Output per year
Research Output 1995 2018
- 1 - 50 out of 74 results
- Publication Year, Title (descending)
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
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
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, , Feb 2017, In : Journal of Investigative Dermatology. 137, 2, p. 385-393 9 p.Research output: Contribution to journal › Article
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
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
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
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., 26 Nov 2015, In : British Journal of Dermatology. 173, 5, p. 1292-1294 4 p.Research output: Contribution to journal › Letter
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 journal › Article
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 journal › Article
South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin
Thawer-Esmail, F., Jakasa, I., Todd, G., Wen, Y., Brown, S. J., Kroboth, K., Campbell, L. E., O'Regan, G. M., McLean, W. H. I., Irvine, A. D., Kezic, S. & Sandilands, A., Jan 2014, In : Journal of Allergy and Clinical Immunology. 133, 1, p. 280-282.e1-e2 5 p.Research output: Contribution to journal › Letter
A nonsense mutation in the mattrin gene causes the matted mouse phenotype and is a predisposing gene for atopic dermatitis in humans
Goh, C. S., Saunders, S. P., Cole, C., Weidinger, S., Baurecht, H., Lee, Y., Reynolds, N. J., Barker, J. N., Cordell, H. J., Brown, S. J., Irvine, A. D., McLean, I., Sandilands, A. & Fallon, P. G., 2013, In : Journal of Investigative Dermatology. 133, S1, p. S145 1 p., 854.Research output: Contribution to journal › Meeting abstract
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 journal › Article
Reliability and validity of genotyping filaggrin null mutations
Margolis, D. J., Apter, A. J., Mitra, N., Gupta, J., Hoffstad, O., Papadopoulos, M., Rebbeck, T. R., MacCallum, S., Campbell, L. E., Sandilands, A. & McLean, W. H. I., Apr 2013, In : Journal of Dermatological Science. 70, 1, p. 67-68 2 p.Research output: Contribution to journal › Letter
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, , Nov 2013, In : Journal of Allergy and Clinical Immunology. 132, 5, p. 1121-1129 9 p.Research output: Contribution to journal › Article
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 journal › Article
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 journal › Article
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, , Nov 2012, In : Nature Genetics. 44, 11, p. 1272-1276 5 p.Research output: Contribution to journal › Article
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 journal › Article
Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin
Sandilands, A., Brown, S. J., Goh, C. S., Pohler, E., Wilson, N. J., Campbell, L. E., Miyamoto, K., Kubo, A., Irvine, A. D., Thawer-Esmail, F., Munro, C. S., McLean, W. H. I., Kudoh, J., Amagai, M. & Matsui, T., May 2012, In : Journal of Investigative Dermatology. 132, 5, p. 1507-1510 4 p.Research output: Contribution to journal › Letter
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 journal › Article
Copy number variation within the filaggrin gene contributes to risk of atopic dermatitis
Brown, S. J., Kroboth, K., Sandilands, A., Campbell, L. E., Pohler, E., Irvine, A. D., Cordell, H. J. & McLean, W., Apr 2011, In : Journal of Investigative Dermatology. 131, Supplement 1, p. S63-S63 1 p., 375.Research output: Contribution to journal › Book/Film/Article review
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 journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis
Gruber, R., Janecke, A. R., Grabher, D., Sandilands, A., Fauth, C. & Schmuth, M., 13 Apr 2010, In : Journal of Dermatological Science. 58, 1, p. 72-75 4 p.Research output: Contribution to journal › Letter
Filaggrin deficiency results in a dose-dependent impairment of the epidermal barrier in ichthyosis vulgaris
Gruber, R., Crumrine, D., Sandilands, A., Presland, R. B., Fleckman, P., McLean, W., Janecke, A. R., Elias, P. M. & Schmuth, M., Feb 2010, In : Experimental Dermatology. 19, 2, p. 176-176 1 p.Research output: Contribution to journal › Book/Film/Article review
Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma
Osawa, R., Konno, S., Akiyama, M., Nemoto-Hasebe, I., Nomura, T., Nomura, Y., Abe, R., Sandilands, A., McLean, W. H. I., Hizawa, N., Nishimura, M. & Shimizu, H., Dec 2010, In : Journal of Investigative Dermatology. 130, 12, p. 2834-2836 3 p.Research output: Contribution to journal › Letter
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 journal › Article
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming
Fallon, P. G., Sasaki, T., Sandilands, A., Campbell, L. E., Saunders, S. P., Mangan, N. E., Callanan, J. J., Kawasaki, H., Shiohama, A., Kubo, A., Sundberg, J. P., Presland, R. B., Fleckman, P., Shimizu, N., Kudoh, J., Irvine, A. D., Amagai, M. & McLean, W. H. I., May 2009, In : Nature Genetics. 41, 5, p. 602-608 7 p.Research output: Contribution to journal › Letter
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 journal › Article
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 journal › Article
Filaggrin-deficient mice exhibit enhanced percutaneous antigen priming
Irvine, A. D., Fallon, P. G., Sasaki, T., Sandilands, A., Callanan, J. J., Presland, R. B., Fleckman, P., Kudoh, J., Amagai, M. & McLean, W., 2009, In : Journal of Investigative Dermatology. 129, p. S87 1 p., Abstract 519.Research output: Contribution to journal › Book/Film/Article review
Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children
Brown, S. J., Relton, C. L., Liao, H., Zhao, Y., Sandilands, A., McLean, W. H. I., Cordell, H. J. & Reynolds, N. J., Oct 2009, In : British Journal of Dermatology. 161, 4, p. 884-889 6 p.Research output: Contribution to journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis
Nomura, T., Akiyama, M., Sandilands, A., Nemoto-Hasebe, I., Sakai, K., Nagasaki, A., Palmer, C. N. A., Smith, F. J. D., McLean, W. H. I. & Shimizu, H., May 2009, In : Journal of Investigative Dermatology. 129, 5, p. 1302-1305 5 p.Research output: Contribution to journal › Letter
Additional filaggrin polymorphisms in early-onset and persistent atopic eczema
Brown, S. J., Sandilands, A., Zhao, Y., Liao, H., Relton, C. L., Meggitt, S. J., Reynolds, N. J., Barker, J. N. W. N., Trembath, R. C., Cordell, H. J. & McLean, W. H. I., Dec 2008, In : British Journal of Dermatology. 159, 6, p. 1241-1242 2 p., P4.Research output: Contribution to journal › Book/Film/Article review
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, , Sep 2008, In : Journal of Allergy and Clinical Immunology. 122, 3, p. 560-568 9 p.Research output: Contribution to journal › Article
De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis
Hamada, T., Sandilands, A., Fukuda, S., Sakaguchi, S., Ohyama, B., Yasumoto, S., McLean, W. H. I. & Hashimoto, T., May 2008, In : Journal of Investigative Dermatology. 128, 5, p. 1323-1325 3 p.Research output: Contribution to journal › Letter
Evidence for founder effect of filaggrin mutations p.R501X, c.2282del4 and p.R2447X in ichthyosis vulgaris
Gruber, R., Janecke, A. R., Rabl, M., Oji, V., Traupe, H., Sandilands, A., McLean, W., Utermann, G., Frisch, P. O. & Schmuth, M., Mar 2008, In : Experimental Dermatology. 17, 3, p. 246-246 1 p., Abstract P027.Research output: Contribution to journal › Book/Film/Article review
Filaggrin in atopic dermatitis
O'Regan, G. M., Sandilands, A., McLean, W. H. I. & Irvine, A. D., Oct 2008, In : Journal of Allergy and Clinical Immunology. 122, 4, p. 689-693 5 p.Research output: Contribution to journal › Review article
Filaggrin mutations in atopic eczema: genotype-phenotype correlation
Brown, S., Relton, C., Liao, H., Zhao, Y., Sandilands, A., Burn, J., Cordell, H., McLean, W. H. I. & Reynolds, N., Jul 2008, In : British Journal of Dermatology. 159, Supplement s1, p. 11-11 1 p.Research output: Contribution to journal › Meeting abstract
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 journal › Article
Filaggrin null mutations in mild-moderate atopic eczema: a population-based case-control study
Brown, S., Relton, C. L., Liao, H., Zhao, Y., Sandilands, A., Wilson, I. J., Burn, J., Reynolds, N. J., McLean, W. & Cordell, H. J., Apr 2008, In : Journal of Investigative Dermatology. 128, S1, p. S112-S112 1 p., 670.Research output: Contribution to journal › Meeting abstract
Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema
Brown, S. J., Sandilands, A., Zhao, Y., Liao, H., Relton, C. L., Meggitt, S. J., Trembath, R. C., Barker, J. N. W. N., Reynolds, N. J., Cordell, H. J. & McLean, W. H. I., Jun 2008, In : Journal of Investigative Dermatology. 128, 6, p. 1591-1594 5 p.Research output: Contribution to journal › Letter
Prevalent and rare filaggrin mutations in Japanese patients with ichthyosis vulgaris and atopic dermantitis
Nomura, T., Akiyama, M., Sandilands, A., Nemoto-Hasebe, I., Sakai, K., Nagasaki, A., Ota, M., Hata, H., Evans, A. T., Palmer, C., McLean, I. & Shimizu, H., Apr 2008, In : Journal of Investigative Dermatology. 128, s1, p. S99-S99 1 p.Research output: Contribution to journal › Special issue
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 journal › Article
The genetic architecture and population genetics of filaggrin-related atopic dermatitis
O'Regan, G. M., Irvine, A. D., Chen, H., Nomura, T., Campbell, L. E., Zhao, Y., Liao, H., Palmer, C. N., Smith, F. J., McLean, W. & Sandilands, A., Apr 2008, In : Journal of Investigative Dermatology. 128, S1, p. S128-S128 1 p.Research output: Contribution to journal › Book/Film/Article review