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Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond

British journal of dermatology (1951), 2016-10, Vol.175 (S2), p.4-7

McLean, W.H.I.

2016

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The molecular genetic analysis of the expanding pachyonychia congenita case collection

British journal of dermatology (1951), 2014-08, Vol.171 (2), p.343-355

2014

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Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children

British journal of dermatology (1951), 2018-07, Vol.179 (1), p.190-191

2018

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Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

British journal of dermatology (1951), 2015-11, Vol.173 (5), p.1291-1294

2015

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A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome

Journal of dermatological science, 2012-01, Vol.65 (1), p.74-76

2012

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Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell‐related immunity and angiogenesis

British journal of dermatology (1951), 2019-03, Vol.180 (3), p.586-596

2019

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature genetics, 1996-08, Vol.13 (4), p.450-457

1996

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A minimally invasive tool to study immune response and skin barrier in children with atopic dermatitis

British journal of dermatology (1951), 2019-03, Vol.180 (3), p.621-630

2019

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Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age

British journal of dermatology (1951), 2010-12, Vol.163 (6), p.1333-1336

2010

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CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

Gene therapy, 2016-01, Vol.23 (1), p.108-112

2016

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Early‐life regional and temporal variation in filaggrin‐derived natural moisturizing factor, filaggrin‐processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis

British journal of dermatology (1951), 2018-08, Vol.179 (2), p.431-441

2018

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婴儿 AD 中的角质层和系统生物标志物

British journal of dermatology (1951), 2019-03, Vol.180 (3)

2019

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Nature genetics, 1995-03, Vol.9 (3), p.273-278

1995

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Longitudinal analysis of the effect of water hardness on atopic eczema: evidence for gene–environment interaction

British journal of dermatology (1951), 2020-08, Vol.183 (2), p.285-293

2020

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Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis

British journal of dermatology (1951), 2013-02, Vol.168 (2), p.326-332

2013

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Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

British journal of dermatology (1951), 2015-01, Vol.172 (1), p.94-100

2015

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A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

Journal of dental research, 2001-03, Vol.80 (3), p.919-923

2001

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

British journal of dermatology (1951), 2011-11, Vol.165 (5), p.1074-1080

2011

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浅色和深色型皮肤 AD 儿童中的皮肤胶带黏贴

British journal of dermatology (1951), 2019-03, Vol.180 (3)

2019

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

British journal of dermatology (1951), 2011-07, Vol.165 (1), p.106-114

2011

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婴儿 AD 中的角质层和系统生物标志物

British journal of dermatology (1951), 2019-03, Vol.180 (3), p.e98-e98

2019

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Stratum corneum and systemic biomarkers in infantile AD

British journal of dermatology (1951), 2019-03, Vol.180 (3), p.e82-e82

2019

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A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

Nature genetics, 1995-12, Vol.11 (4), p.450-452

1995

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SC tape‐stripping in children with AD with light and dark skin types

British journal of dermatology (1951), 2019-03, Vol.180 (3), p.e73-e73

2019

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浅色和深色型皮肤 AD 儿童中的皮肤胶带黏贴

British journal of dermatology (1951), 2019-03, Vol.180 (3), p.e89-e89

2019

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Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond

The molecular genetic analysis of the expanding pachyonychia congenita case collection

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome

Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell‐related immunity and angiogenesis

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

A minimally invasive tool to study immune response and skin barrier in children with atopic dermatitis

Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

Early‐life regional and temporal variation in filaggrin‐derived natural moisturizing factor, filaggrin‐processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis

婴儿 AD 中的角质层和系统生物标志物

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Longitudinal analysis of the effect of water hardness on atopic eczema: evidence for gene–environment interaction

Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus

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

浅色和深色型皮肤 AD 儿童中的皮肤胶带黏贴

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

婴儿 AD 中的角质层和系统生物标志物

Stratum corneum and systemic biomarkers in infantile AD

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

SC tape‐stripping in children with AD with light and dark skin types

浅色和深色型皮肤 AD 儿童中的皮肤胶带黏贴

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