A. Sandilands

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

Colin N A Palmer, Robert Gruber, C. Palmer, 2007, Nature Genetics.

Atopic dermatitis and skin disease 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

S. Kežić, R. Lutter, G. Puppels, 2012 .

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

N. Klopp, A. Prescott, G. Vrensen, 1998 .

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.

C. Strobl, N. Klopp, T. Illig, 2008, The Journal of allergy and clinical immunology.

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

D. Margolis, T. Rebbeck, N. Mitra, 2012, The Journal of allergy and clinical immunology.

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

J. James, A. Prescott, M. Pekny, 2004, Experimental eye research.

Filaggrin in atopic dermatitis.

A. Irvine, G. O’Regan, W. McLean, 2008, The Journal of allergy and clinical immunology.

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

J. Kudoh, C. Munro, A. Irvine, 2012, The Journal of investigative dermatology.

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma.

M. Nishimura, M. Akiyama, H. Shimizu, 2010, The Journal of investigative dermatology.

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

P. Fitzgerald, J. M. Carter, R. Quinlan, 1995, Journal of cell science.

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

P. Fitzgerald, R. Quinlan, A. Sandilands, 1995, European journal of cell biology.

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

M. Swertz, R. Hickerson, K. J. van der Velde, 2021, International Journal of Molecular Sciences.

Analysis of the individual and aggregate genetic contributions of previously identified SPINK 5 , KLK 7 and FLG polymorphisms to eczema risk

C. Strobl, N. Klopp, T. Illig, 2015 .

Reliability and validity of genotyping filaggrin null mutations.

D. Margolis, T. Rebbeck, N. Mitra, 2013, Journal of dermatological science.

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

C. Gieger, G. Barton, A. Balmain, 2013, The Journal of allergy and clinical immunology.

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

M. Akiyama, H. Shimizu, C. Palmer, 2008, The Journal of investigative dermatology.

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

M. Akiyama, H. Shimizu, C. Palmer, 2007, The Journal of allergy and clinical immunology.

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

D. Goudie, Yiwei Zhao, A. Irvine, 2006, The Journal of investigative dermatology.

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

J. R. McMillan, J. McGrath, C. Cole, 2015, The British journal of dermatology.

The intermediate filament cytoskeleton of the lens: an ever changing network through development and differentiation. A minireview.

J. M. Carter, R. Quinlan, A. Sandilands, 1996, Ophthalmic research.

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

S. Kežić, A. Irvine, G. O’Regan, 2011, Allergy.

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

Guolong Zhang, A. Sandilands, Ming Li, 2018, The Journal of investigative dermatology.

Atopic dermatitis and skin disease Filaggrin null mutations and childhood atopic eczema : A population-based case-control study

H. Cordell, C. Relton, I. Wilson, 2022 .

Filaggrin Mutations Strongly Predispose to Early-Onset and Extrinsic Atopic Dermatitis

R. Lawrence, A. Sandilands, A. Terron-Kwiatkowski, 2007 .

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

S. Kežić, Y. Wen, A. Irvine, 2014, The Journal of allergy and clinical immunology.

The eye lens cytoskeleton

A. Prescott, R. Dahm, J. M. Carter, 1999, Eye.

The beaded filament of the eye lens: an unexpected key to intermediate filament structure and function.

A. Prescott, J. Carte, R. Quinlan, 1996, Trends in cell biology.

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

J. James, A. Prescott, M. Pekny, 2004, Experimental eye research.

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

J. Kuszak, A. Prescott, R. Quinlan, 2003, Experimental eye research.

Filaggrin in atopic dermatitis.

A. Irvine, G. O’Regan, W. McLean, 2009, The Journal of allergy and clinical immunology.

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

E. Lane, Huijia Chen, W. McLean, 2008, The Journal of investigative dermatology.

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

M. Akiyama, H. Shimizu, T. Nomura, 2009, The British journal of dermatology.

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

M. Akiyama, H. Shimizu, T. Nomura, 2009, The British journal of dermatology.

Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis.

M. Akiyama, H. Shimizu, C. Palmer, 2009, The Journal of investigative dermatology.

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

E. Lane, W. McLean, Huijia Chen, 2008, The Journal of investigative dermatology.

Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema.

H. Cordell, R. Trembath, C. Relton, 2008, The Journal of investigative dermatology.

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.

W. McLean, T. Hashimoto, B. Ohyama, 2008, The Journal of investigative dermatology.

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

Colin N A Palmer, Ann Sergeant, Hans Bisgaard, 2006, Nature Genetics.

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

O. Sarig, G. Ast, N. Shomron, 2016, The Journal of investigative dermatology.

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

S. Bale, D. Goudie, C. Munro, 2006, Nature Genetics.

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

C. Sutherland, A. Irvine, W. McLean, 2009, Journal of Cell Science.

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

Jianguo Fan, A. Purkiss, R. Fariss, 2005, Molecular vision.

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

Jianguo Fan, A. Purkiss, R. Fariss, 2005 .

Epidermal Differentiation Complex Yields a Secret: Mutations in the Cornification Protein Filaggrin Underlie Ichthyosis Vulgaris

S. Yang, M. Gao, A. Sandilands, 2006 .

Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect

S. Kežić, H. Cordell, A. Irvine, 2011, The Journal of investigative dermatology.

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

N. Klopp, A. Prescott, G. Vrensen, 1998, Genomics.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

G. Barton, M. Akiyama, H. Shimizu, 2012, Nature Genetics.

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

M. Nordenskjöld, M. Winge, M. Bradley, 2011, The British journal of dermatology.

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

M. Tang, J. Common, H. Cordell, 2011, The British journal of dermatology.

The intermediate filament systems in the eye lens.

J. Kuszak, A. Prescott, R. Dahm, 2004, Methods in cell biology.

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

A. Tay, X. F. C. C. Wong, M. Tang, 2017, bioRxiv.

A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming

A. Shiohama, Takashi Sasaki, N. Shimizu, 2009, Nature Genetics.

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

H. Cordell, C. Relton, N. Reynolds, 2009, The British journal of dermatology.

Clinical severity correlates with impaired barrier in filaggrin-related eczema.

M. Akiyama, H. Shimizu, T. Nomura, 2009, The Journal of investigative dermatology.

Generation and Characterisation of Keratin 7 (K7) Knockout Mice

E. Lane, W. McLean, S. Fleming, 2013, PloS one.

Altered aggregation properties of mutant γ‐crystallins cause inherited cataract

C. Dobson, N. Klopp, C. MacPhee, 2002 .

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

G. Barton, N. Schurch, C. Cole, 2014, The Journal of allergy and clinical immunology.

Lens intermediate filament proteins.

R. Quinlan, A. Sandilands, S. Masaki, 1998, Sub-cellular biochemistry.

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

M. Mildner, E. Tschachler, P. Elias, 2011, The American journal of pathology.

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

Gerwin J. Puppels, Peter J. Caspers, G. Puppels, 2010, The Journal of allergy and clinical immunology.

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

M. Akiyama, H. Shimizu, T. Nomura, 2015, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

A. Prescott, M. Kasper, J. Graw, 2000, The Anatomical record.

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

J. Gerss, D. Metze, S. Emmert, 2009, The British journal of dermatology.

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

A. Irvine, W. McLean, A. Sandilands, 2007, The Journal of investigative dermatology.

Molecular genetics methods for human intermediate filament diseases.

W. McLean, A. Sandilands, F. Smith, 2004, Methods in cell biology.

Altered aggregation properties of mutant gamma-crystallins cause inherited cataract.

C. Dobson, N. Klopp, C. MacPhee, 2002, The EMBO journal.

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

C. Cole, A. Irvine, M. McAleer, 2017, The British journal of dermatology.

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

N. Schurch, C. Cole, A. Sherstnev, 2022 .

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

O. Sarig, G. Ast, N. Shomron, 2016, The Journal of investigative dermatology.

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

S. Kežić, P. Fallon, P. Caspers, 2012, The Journal of allergy and clinical immunology.

Filaggrin mutations: Prognosis and response to therapy overtime

D. Margolis, T. Rebbeck, N. Mitra, 2012 .

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

H. Cordell, Yiwei Zhao, A. Sandilands, 2008, The Journal of allergy and clinical immunology.