Publications 2008

Smith FJD, Hickerson RP, Sayers JM, Reeves RE, Contag CH, Leake D, Kaspar RL and McLean WHI (2008).  Development of therapeutic siRNAs for pachyonychia congenita.  J Invest Dermatol 128: 50-58 [Epub ahead of print, 30th August 2007].  (Pub Med ID: 17762855)

Hickerson RP, Smith FJD, Reeves RE, Contag CH, Leake D, Leube R, Leachman SA, Milstone LM, McLean WHI and Kaspar RL (2008).  Single nucleotide-specific siRNA targeting of mutant keratin 6a responsible for the dominant-negative skin disorder pachyonychia congenita.  J Invest Dermatol, 128: 594-605 [Epub ahead of print, 4h October 2007].  (Pub Med ID: 17914454)

Hamada T, Sandilands A, Fukuda S, Sakaguchi S, Ohyama B, Yasumoto S, McLean WHI, Hashimoto T (2008).  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.  J Invest Dermatol 128: 1323-1325 [Epub ahead of print, Nov 15th 2007].  (Pub Med ID: 18007582)

Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, Chen H, Sim SY, Goh WL, Ng KW, Simpson JA, Chee LL, Eng GH, Li B, Lunny DP, Chuon D, Venkatesh A, Khoo KH, McLean WHI, Lim YP, Lane EB (2008).  The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.  Hum Mutat 29: 351-360 [Epub ahead of print, Nov 21st 2007].  (Pub Med ID: 18033728)

Brown SJ, Sandilands A, Zhao Y, Liao H, Relton CL, Meggitt SJ, Trembath RC, Barker JN, Reynolds NJ, Cordell HJ, McLean WHI (2008).  Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema.  J Invest Dermatol 128: 1591-1594 [Epub ahead of print, Dec 20th 2007]. (Pub Med ID: 18094728)

Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Ota M, Hata H, Evans AT, Palmer CNA, Shimizu H and McLean WHI (2008).  Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.  J Invest Dermatol 128: 1436-1441 [Epub ahead of print, Jan 17th 2008]. (Pub Med ID: 18200065)

Chen H, Ho JCC, Sandilands A, Chan YC, Giam YC, Evans AT, Lane EB and McLean WHI (2008).  Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris.  J Invest Dermatol 128: 1669-1675 [Epub ahead of print, Jan 31st 2008].  (Pub Med ID: 18239616)

Basu K, Palmer CNA, Lipworth BJ, McLean WHI, Terron-Kwiatkowski A, Zhao Y, Liao H, Smith FJD, Mitra A, Mukhopadhyay S (2008).  Filaggrin null mutations are associated with increased asthma associations in children and young adults.  Allergy 63: 1211-1217 [Epub ahead of print, Feb 23rd 2008].  (Pub Med ID: 18307574)

Kezic S, Kemperman PMJH, Koster E, de Jongh C, Thio BH, Campbell LE, Irvine AD, McLean WHI, Puppels GJ and Caspers PJ (2008).  Loss-of-function mutations in the filaggrin gene lead to both impaired skin barrier function and reduced levels of natural moisturizing factor in the stratum corneum.  J Invest Dermatol 128: 2117-2119 [Epub ahead of print, Feb 28th 2008].  (Pub Med ID: 18305568)

Brown SJ, Relton C, Liao H, Zhao Y, Sandilands A, Wilson I, Reynolds NJ, Burn J, McLean WHI and Cordell HC (2008).  Filaggrin null mutations and childhood atopic eczema: a population based case control study.  J Allergy Clin Immun 121: 940-946 [Epub ahead of print, Feb 27th 2008]. (Pub Med ID: 18313126)

Henderson J, Northstone K, Lee SP, Liao H, Zhao Y, Mukhopadhyay S, Davey-Smith G, Palmer CNA, McLean WHI and Irvine AD (2008).  The burden of disease associated with filaggrin mutations: a population based, longitudinal birth cohort study.  J Allergy Clin Immun 121: 872-877 [Epub ahead of print, Mar 4th 2008].  (Pub Med ID: 18325573)

Weidinger S, O’Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK, McLean WHI, von Mutius E, Irvine AD and Kabesch M (2008).  Filaggrin mutations, atopic eczema, hay fever and asthma in children.  J Allergy Clin Immun 121: 1203-1209 [Epub ahead of print, Apr 5th 2008].  (Pub Med ID: 18396323)

Leachman SA, Hickerson RP, Hull PR, Smith FJD, Milstone LM, Lane EB, Bale SJ, Roop DR, McLean WHI and Kaspar RL (2008).  Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.  J Dermatol Sci 51: 151-157 [Epub ahead of print, May 19th 2008].  (Pub Med ID: 18495438)

Zamiri M, McLean WHI, Hodgins MB and Munro CS (2008).  Pachyonychia congenita type 2: abnormal dentition extending into adulthood.  Brit J Dermatol 159: 500-1. [Epub ahead of print, Jun 11th 2008].  (Pub Med ID: 18547314)

O’Regan GM, Sandilands AMcLean WHI and Irvine AD (2008).  Current Perspectives Series: Filaggrin in Atopic Dermatitis.  J Allergy Clin Immun, 122: 689-693. [Epub ahead of print, Sept 4th 2008].  (Pub Med ID: 18774165)

Weidinger S, Baurecht H, Wagenpfeil S, Henderson J, Novak N, Sandilands A, Chen H, Rodriguez E, O’Regan GM, Watson R, Liao H, Zhao Y, Barker JNWN, Allen M, Reynolds N, Northstone K, Strobl C, Stahl C, Kneib T, Klopp N, Bieber T, Behrendt H, Palmer CNA, Ring J, Illig T, McLean WHI*, Irvine AD* (2008).  Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikreinrelated peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.  J Allergy Clin Immun, 122: 560-8.  (Pub Med ID: 18774391)  (Pub Med ID: 18774391)

Chen H, Toh TKL, Szeverenyi I, Ong RTH, Theng CTS, McLean WHI, Seielstad M and Lane EB (2008).  Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis.  J Invest Dermatol 129: 606-614 [Epub ahead of print, Sept 11th 2008].  (Pub Med ID: 18787534)

Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands AMcLean WHI and Shimizu H (2008).  Clinical severity correlates with impaired barrier in filaggrin-related eczema.  J Invest Dermatol 129: 682-689 [Epub ahead of print, Sept 25th 2008]  (Pub Med ID: 18818676)

Sergeant A, Campbell LE, Hull PR, Porter M, Palmer CNA, Smith FJDMcLean WHI and Munro CS (2008).  Hetrozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol 129: 1042-1045 [Epub ahead of print Nov 6th 2008].  (Pub Med ID: 18987673)

Lane EB and McLean WHI (2008).  Broken bricks and cracked mortar – epidermal diseases resulting from genetic abnormalities.  Drug Discov Today: Disease Mechanisms, 5: 393-401 [Epub ahead of print Nov 8th 2007; DOI: 10.1016/j.ddmec.2008.09.001].

Nomura T, Akiyama M, Sandilands A, Nemoto-Hesebe I, Sakai K, Nagasaki A, Palmer CNA, Smith FJDMcLean WHI and Shimizu H (2008).  Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis.  J Invest Dermatol 129: 1302-1305 [Epub ahead of print Nov 27th 2008].  (Pub Med ID: 19037238)