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

scientific article

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/NG1743
P698PubMed publication ID16444271
P5875ResearchGate publication ID7330018

P50authorIrwin McLeanQ17488812
Richard B. PreslandQ38804618
Alan D. IrvineQ39066910
John DigiovannaQ88063055
Sue Lewis-JonesQ114415625
Aileen SandilandsQ117242009
Gráinne M O'ReganQ117242012
Haihui LiaoQ117242014
David R GoudieQ117242018
Ana Terron-KwiatkowskiQ117242024
Sherri J BaleQ117242026
Philip FleckmanQ117242029
Gehan ArseculeratneQ117242030
Ann SergeantQ117242032
P2093author name stringFrances J D Smith
Alan T Evans
Yiwei Zhao
Linda E Campbell
John G Compton
Colin S Munro
P2860cites workProfilaggrin is a major epidermal calcium-binding proteinQ28118351
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 familiesQ28200896
Functional analysis of the profilaggrin N-terminal peptide: identification of domains that regulate nuclear and cytoplasmic distributionQ28572970
Characterization of a class of cationic proteins that specifically interact with intermediate filamentsQ28592555
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).Q34290979
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of SiemensQ34478659
The cornified envelope: a model of cell death in the skinQ36085605
Filaggrin: a keratin filament associated proteinQ38156833
Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormalQ41906834
Characterization of the mouse loricrin gene: linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome 3.Q42688900
Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgarisQ47993940
Organization, structure, and polymorphisms of the human profilaggrin geneQ68616823
Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granulesQ69381252
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21Q71049670
Genetic heterogeneity in lamellar ichthyosisQ71384383
Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiationQ73012075
Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgarisQ73307513
Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22Q73601400
Differential patterns of filaggrin expression in lamellar ichthyosisQ78173463
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1Q78631426
Keratin bundling proteinsQ81261883
Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English PopulationQ84950325
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)337-342
P577publication date2006-01-29
P1433published inNature GeneticsQ976454
P1476titleLoss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
P478volume38

Reverse relations

cites work (P2860)
Q37137538"Outside-to-inside" (and now back to "outside") pathogenic mechanisms in atopic dermatitis.
Q2858538712R-lipoxygenase deficiency disrupts epidermal barrier function
Q353857582,3,7,8-Tetrachlorodibenzo-p-dioxin increases the expression of genes in the human epidermal differentiation complex and accelerates epidermal barrier formation
Q337301543D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells
Q491529598th Georg Rajka International Symposium on Atopic Dermatitis: meeting report.
Q56996876A Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders
Q50852813A case of junctional epidermolysis bullosa with prurigo-like lesions and reduction of collagen XVII and filaggrin.
Q47162944A curated gene list for reporting results of newborn genomic sequencing.
Q36294118A de novo variant in the ASPRV1 gene in a dog with ichthyosis.
Q35230158A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci
Q37286978A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis
Q33858072A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.
Q36359407A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity.
Q59755350A mechanistic target of rapamycin complex 1/2 (mTORC1)/V-Akt murine thymoma viral oncogene homolog 1 (AKT1)/cathepsin H axis controls filaggrin expression and processing in skin, a novel mechanism for skin barrier disruption in patients with atopic d
Q33755831A milieu of regulatory elements in the epidermal differentiation complex syntenic block: implications for atopic dermatitis and psoriasis
Q35764953A novel filaggrin gene mutation 7487delC in an Indonesian (Javanese) patient with atopic dermatitis.
Q35319834A possible association between a dysfunctional skin barrier (filaggrin null-mutation status) and diabetes: a cross-sectional study
Q24602843A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis
Q58782221Adhesion of Staphylococcus aureus to Corneocytes from Atopic Dermatitis Patients Is Controlled by Natural Moisturizing Factor Levels
Q94561512Advances in the Immunology and Genetics of Leprosy
Q42567150Akt-dependent Pp2a activity is required for epidermal barrier formation during late embryonic development.
Q34204432Allergic asthma: influence of genetic and environmental factors
Q46421916Alterations in Epidermal Eicosanoid Metabolism Contribute to Inflammation and Impaired Late Differentiation in FLG-Mutated Atopic Dermatitis
Q37010110Amniotic fluid activates the nrf2/keap1 pathway to repair an epidermal barrier defect in utero
Q36989842An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.
Q42625730An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders
Q39685927An intronic enhancer driven by NF-κB contributes to transcriptional regulation of peptidylarginine deiminase type I gene in human keratinocytes.
Q28468651An update of the defensive barrier function of skin
Q33868032An update on the genetics of atopic dermatitis: scratching the surface in 2009.
Q45376101Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV.
Q50065611Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.
Q64234829Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Q86499120Assessing the in vivo epidermal barrier in mice: dye penetration assays
Q47251720Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
Q35588826Association of common filaggrin null mutations with atopy but not chronic rhinosinusitis.
Q40572072Association of single nucleotide polymorphism rs2065955 of the filaggrin gene with susceptibility to Epstein-Barr virus-associated gastric carcinoma and EBV-negative gastric carcinoma
Q43861409Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis
Q37698783Associations of filaggrin gene loss-of-function variants with urinary phthalate metabolites and testicular function in young Danish Men.
Q39599395Atopic Dermatitis Susceptibility Variants in Filaggrin Hitchhike Hornerin Selective Sweep.
Q50448143Atopic Eczema: Genetic Associations and Potential Links to Developmental Exposures.
Q98186349Atopic dermatitis
Q37549998Atopic dermatitis and disease severity are the main risk factors for food sensitization in exclusively breastfed infants
Q37937455Atopic dermatitis and the atopic march: what is new?
Q34625597Atopic dermatitis in children: clinical features, pathophysiology, and treatment
Q87204871Atopic eczema
Q41904665Barrier function and microbiotic dysbiosis in atopic dermatitis
Q37037943Barrier repair trumps immunology in the pathogenesis and therapy of atopic dermatitis
Q37105441Basis for the barrier abnormality in atopic dermatitis: outside-inside-outside pathogenic mechanisms
Q50229784Best practices, new perspectives and the perfect emollient: optimizing the management of contact dermatitis.
Q33459162Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.
Q50736596Carriers of filaggrin gene (FLG) mutations avoid professional exposure to irritants in adulthood.
Q49057616Caspase-14 is required for filaggrin degradation to natural moisturizing factors in the skin.
Q34579689Caspase-14 protects against epidermal UVB photodamage and water loss
Q34746129Caspase-14 reveals its secrets
Q37499326Cellular and molecular mechanisms in atopic dermatitis
Q47223383Characterization of Water Self-Diffusion in Human Stratum Corneum
Q37164077Characterization of a hapten-induced, murine model with multiple features of atopic dermatitis: structural, immunologic, and biochemical changes following single versus multiple oxazolone challenges
Q55056966Characterization of canine filaggrin: gene structure and protein expression in dog skin.
Q34571051Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations
Q57299708Clinical Features and Diagnostic Criteria of Atopic Dermatitis
Q58859768Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema
Q34481975Clinical presentation of atopic dermatitis by filaggrin gene mutation status during the first 7 years of life in a prospective cohort study
Q34324282Coal tar induces AHR-dependent skin barrier repair in atopic dermatitis
Q33837769Coherent somatic mutation in autoimmune disease
Q34477814Common FLG mutation K4671X not associated with atopic dermatitis in Han Chinese in a family association study
Q41669695Common filaggrin gene mutations and risk of cervical cancer.
Q28303063Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Q35622634Comparative genomics reveals conservation of filaggrin and loss of caspase-14 in dolphins
Q43564093Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile
Q57061506Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
Q48089989Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.
Q55082683Congenital ichthyosis patient with squamous cell carcinoma of the skin who received concurrent chemoradiation: A case report.
Q36907593Control of somatic tissue differentiation by the long non-coding RNA TINCR.
Q38788790Control of the Physical and Antimicrobial Skin Barrier by an IL-31-IL-1 Signaling Network.
Q42935186Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis.
Q43737889Copy-number variation of the filaggrin gene in Korean patients with atopic dermatitis: what really matters, 'number' or 'variation'?
Q89747842Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status
Q35738525Crystal Structure of Human Profilaggrin S100 Domain and Identification of Target Proteins Annexin II, Stratifin, and HSP27.
Q41823296Current Understanding in Pathogenesis of Atopic Dermatitis
Q37038468Current aspects of innate and adaptive immunity in atopic dermatitis
Q38076304Cysteine proteases: mode of action and role in epidermal differentiation
Q35633397Cytokine profiles in interstitial fluid from chronic atopic dermatitis skin.
Q35759101Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis
Q24317035Defects of filaggrin-like proteins in both lesional and nonlesional atopic skin
Q43181179Deimination is regulated at multiple levels including auto-deimination of peptidylarginine deiminases.
Q28118423Deimination of human filaggrin-2 promotes its proteolysis by calpain 1
Q44662108Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.
Q46175556Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants
Q37095239Discovering susceptibility genes for asthma and allergy
Q38237121Discovery in genetic skin disease: the impact of high throughput genetic technologies
Q58859701Disorders of Keratinization
Q36809911Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.
Q28590539Disruption of epidermal specific gene expression and delayed skin development in AP-2 gamma mutant mice
Q37526675Does eczema lead to asthma?
Q92489299EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis
Q37390367Eczema genetics: current state of knowledge and future goals
Q37782462Eczema in early life: genetics, the skin barrier, and lessons learned from birth cohort studies
Q36770778Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus
Q93088740Effect of filaggrin loss-of-function mutations on atopic dermatitis in young age: a longitudinal birth cohort study
Q24300787Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing
Q41524591Embryonic AP1 Transcription Factor Deficiency Causes a Collodion Baby-Like Phenotype
Q36023872Epicutaneous antigen exposure induces a Th17 response that drives airway inflammation after inhalation challenge
Q42409257Epidermal Differentiation in Barrier Maintenance and Wound Healing
Q38265975Epidermal barrier disorders and corneodesmosome defects
Q37980290Epidermal barrier dysfunction and cutaneous sensitization in atopic diseases
Q37507508Epidermal barrier dysfunction in atopic dermatitis.
Q34576611Epidermal barrier formation and recovery in skin disorders
Q38201396Epidermal barriers
Q37776585Evolution of Conventional Therapy in Atopic Dermatitis
Q38268891Evolving concepts of neonatal skin
Q90318837Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report
Q53290464Explant cultures of atopic dermatitis biopsies maintain their epidermal characteristics in vitro.
Q36239426Exploring the origins of asthma: Lessons from twin studies
Q41911944Expression of filaggrin in normal and keratinized conjunctiva
Q39637500Expression of wild-type, but not mutant, loricrin causes programmed cell death in HaCaT keratinocytes
Q38091743Filaggrin - revisited
Q61159491Filaggrin Is a Predominant Member of the Denaturation-Resistant Nickel-Binding Proteome of Human Epidermis
Q37622167Filaggrin Mutation in Korean Patients with Atopic Dermatitis.
Q92928120Filaggrin and atopic march
Q37138571Filaggrin and the great epidermal barrier grief
Q47775075Filaggrin compound heterozygous patients carry mutations in trans position.
Q30494794Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens
Q28079701Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond
Q37272219Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis
Q33834147Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: a study in ECAP cohort
Q33655186Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population
Q42404524Filaggrin gene mutations and new SNPs in asthmatic patients: a cross-sectional study in a Spanish population.
Q40222215Filaggrin gene polymorphism associated with Epstein-Barr virus-associated tumors in China.
Q40289819Filaggrin genotype and skin diseases independent of atopic dermatitis in childhood.
Q34099095Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris
Q42919021Filaggrin genotype does not determine the skin's threshold to UV-induced erythema
Q34838614Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function
Q33903373Filaggrin 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.
Q48248501Filaggrin has evolved from an "S100 fused-type protein" (SFTP) gene present in a common ancestor of amphibians and mammals
Q28242202Filaggrin in the frontline: role in skin barrier function and disease
Q36916564Filaggrin inhibits generation of CD1a neolipid antigens by house dust mite-derived phospholipase
Q57401969Filaggrin loss-of-function mutation R501X and 2282del4 carrier status is associated with fissured skin on the hands: results from a cross-sectional population study
Q37126645Filaggrin loss-of-function mutations and association with allergic diseases
Q34294641Filaggrin loss-of-function mutations are associated with food allergy in childhood and adolescence
Q47901863Filaggrin loss-of-function variants are associated with atopic comorbidity in pediatric inflammatory bowel disease
Q37979847Filaggrin mutations and atopy: consequences for future therapeutics
Q57636998Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris
Q57638194Filaggrin null alleles are not associated with hand eczema or contact allergy
Q57316218Filaggrin null mutations and childhood atopic eczema: A population-based case-control study
Q81390404Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study
Q34981540Filaggrin null mutations are not a protective factor for acne vulgaris.
Q37619379Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects
Q33915290Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen
Q33650573Filaggrin-null mutations are associated with increased maturation markers on Langerhans cells.
Q81533595Filaggrin: an emerging star in atopic march
Q35855529Focal adhesion kinase controls pH-dependent epidermal barrier homeostasis by regulating actin-directed Na+/H+ exchanger 1 plasma membrane localization
Q58923901Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association
Q42648107Gene (mRNA) expression in canine atopic dermatitis: microarray analysis
Q21090137Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure
Q37016579Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.
Q42089233Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients
Q35085864Genetic dissection of eosinophilic esophagitis provides insight into disease pathogenesis and treatment strategies
Q34342451Genetic polymorphisms and associated susceptibility to asthma
Q26777925Genetics of asthma: an introduction for the clinician
Q44066217Genetics of common chronic inflammatory skin diseases : An update on atopic dermatitis and psoriasis
Q34720303Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis
Q84743938Genome-wide association analysis of canine atopic dermatitis and identification of disease related SNPs
Q38060839HTLV-1-associated infective dermatitis: updates on the pathogenesis
Q37835969Harnessing dendritic cells in inflammatory skin diseases.
Q46845493Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form
Q38348536Hereditary barrier-related diseases involving the tight junction: lessons from skin and intestine
Q34312026Heritable filaggrin disorders: the paradigm of atopic dermatitis
Q57638950Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly
Q55012365High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.
Q82668161Highly complex peptide aggregates of the S100 fused-type protein hornerin are present in human skin
Q61632990Human hyper-IgE syndrome: singular or plural?
Q43458778Human β-defensin-2 as a marker for disease severity and skin barrier properties in atopic dermatitis.
Q43094946Hypoxia-inducible factors regulate filaggrin expression and epidermal barrier function
Q88872584Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature
Q37045238Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders
Q38072741Ichthyosis vulgaris: the filaggrin mutation disease.
Q24321438Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing
Q37721725Identification and comparative analysis of the epidermal differentiation complex in snakes
Q48057938Identification of trichohyalin-like 1, an s100 fused-type protein selectively expressed in hair follicles.
Q57244453Impact of filaggrin mutations on Raman spectra and biophysical properties of the stratum corneum in mild to moderate atopic dermatitis
Q41865099In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation
Q48055869Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Q36543023Inherited ichthyoses/generalized Mendelian disorders of cornification
Q38761867Inherited ichthyosis: Non-syndromic forms
Q79460774Inhibition of histone deacetylation promotes abnormal epidermal differentiation and specifically suppresses the expression of the late differentiation marker profilaggrin
Q37823415Innate immunity in atopic dermatitis
Q30104783Interaction of bovine erythrocyte superoxide dismutase with hydrogen peroxide. Inactivation of the enzyme
Q24194413Interventions for congenital ichthyosis
Q35609038Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect
Q37915762Is the skin barrier abnormal in dogs with atopic dermatitis?
Q37273142Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome
Q43072814Knockdown of filaggrin impairs diffusion barrier function and increases UV sensitivity in a human skin model
Q45253506Lack of association between filaggrin gene mutations and onset of psoriasis in childhood.
Q39094595Lessons from Animal Models of Cytoplasmic Intermediate Filament Proteins
Q37139810Lipids and skin barrier function--a clinical perspective
Q79434766Looking ahead by looking back
Q82622841Looking ahead in dermatology: skin and allergy
Q90694778Loricrin: Past, Present, and Future
Q24294533Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease
Q41084067Loss of epidermal AP1 transcription factor function reduces filaggrin level, alters chemokine expression and produces an ichthyosis-related phenotype
Q58859832Loss-of-Function Mutations in the Filaggrin Gene Lead to Reduced Level of Natural Moisturizing Factor in the Stratum Corneum
Q61410976Loss-of-Function Mutations in the Gene Encoding Filaggrin Are Not Strongly Associated with Chronic Actinic Dermatitis
Q59498898Loss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients
Q48051410Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
Q45245735Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?
Q37868636Malignant skin tumours in patients with inherited ichthyosis
Q38079280Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy
Q35165436Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance
Q35097182Matriptase deletion initiates a Sjögren's syndrome-like disease in mice
Q24609336Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome
Q34809525Matriptase: potent proteolysis on the cell surface
Q36639122Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier
Q55411644Microbiome in the Gut-Skin Axis in Atopic Dermatitis.
Q52585412Mite and cockroach allergens activate protease-activated receptor 2 and delay epidermal permeability barrier recovery.
Q54453221Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype.
Q38203185Molecular biology of atopic dermatitis
Q82617890Molecular genetics of the skin: the implications of understanding
Q24318288Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family
Q38962158Molecular mechanisms in atopic eczema: insights gained from genetic studies
Q89529714Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis
Q47037332Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Q30827918Natural Selection in the Great Apes
Q37893540Nickel allergies: paying the Toll for innate immunity
Q39670897Noninvasive detection of filaggrin gene mutations using Raman spectroscopy
Q44971096Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis.
Q47928659Of flaky tails and itchy skin
Q36580486Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema
Q38767340On the phenotypic spectrum of serine biosynthesis defects
Q36851187On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis
Q36043328One remarkable molecule: filaggrin.
Q39621704Optimization of filaggrin expression and processing in cultured rat keratinocytes.
Q42041706Overcoming the Barrier Treatment of Ichthyosis: A Combination-therapy Approach
Q41661456Overexpression of constitutively active BMP-receptor-IB in mouse skin causes an ichthyosis-vulgaris-like disease.
Q64097094PEBBLES study protocol: a randomised controlled trial to prevent atopic dermatitis, food allergy and sensitisation in infants with a family history of allergic disease using a skin barrier improvement strategy
Q83350797PSORS1: linking genetics and immunology
Q51902117Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model.
Q27348706Periodic Exposure of Keratinocytes to Cold Physical Plasma: An In Vitro Model for Redox-Related Diseases of the Skin.
Q35846994Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy
Q56112407Possibilities for human skin characterization based on strongly reduced Raman spectroscopic information
Q57638948Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis
Q52651330Primary atopic disorders.
Q47338748Profilaggrin, dry skin, and atopic dermatitis risk: size matters.
Q84569535Protein kinase C/mitogen-activated protein kinase signaling in keratinocyte differentiation control
Q24201204Psychological and educational interventions for atopic eczema in children
Q36770783Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes
Q36462660Recent advances in asthma genetics
Q26740640Recent advances in understanding ichthyosis pathogenesis
Q61460045Recent evolution of the human skin barrier
Q45169364Recombinant filaggrin is internalized and processed to correct filaggrin deficiency
Q64259313Reconstructed Skin Models Revealed Unexpected Differences in Epidermal African and Caucasian Skin
Q34089304Redox imbalance in T cell-mediated skin diseases
Q52645660Reevaluation of the non-lesional dry skin in atopic dermatitis by acute barrier disruption: an abnormal permeability barrier homeostasis with defective processing to generate ceramide.
Q33955235Regulation of the dynamic chromatin architecture of the epidermal differentiation complex is mediated by a c-Jun/AP-1-modulated enhancer
Q84203584Regulatory role for the profilaggrin N-terminal domain in epidermal homeostasis
Q37009417Reliability and validity of genotyping filaggrin null mutations.
Q36038743SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing
Q84554389SNPing at the Epidermal Barrier
Q46222098Second report of FLG R501X mutation in Japanese patients with atopic dermatitis
Q44448070Semidominant inheritance in epidermolytic ichthyosis
Q50907995Sensitization via healthy skin programs Th2 responses in individuals with atopic dermatitis.
Q36201956Sequence heuristics to encode phase behaviour in intrinsically disordered protein polymers
Q36292214Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin
Q43995981Severe skin inflammation and filaggrin mutation similarly alter the skin barrier in patients with atopic dermatitis
Q52373773Single blinded, randomized, placebo-controlled study on the effects of ciclosporin on cutaneous barrier function and immunological response in atopic beagles.
Q33300613Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families
Q30405464Skin barrier defects in atopic dermatitis
Q35757285Skin barrier disruption: a requirement for allergen sensitization?
Q82996787Skin barrier function and allergic risk
Q37986899Skin biology
Q35541738Skin reaction and regeneration after single sodium lauryl sulfate exposure stratified by filaggrin genotype and atopic dermatitis phenotype.
Q42859520Spontaneous atopic dermatitis-like symptoms in a/a ma ft/ma ft/J flaky tail mice appear early after birth
Q37405807Staphylococcus aureus Exploits Epidermal Barrier Defects in Atopic Dermatitis to Trigger Cytokine Expression
Q35972819Storage Temperature Alters the Expression of Differentiation-Related Genes in Cultured Oral Keratinocytes
Q24615302Stratum corneum dysfunction in dandruff
Q44859320Stratum corneum removal facilitates experimental sensitization to mite allergens in atopic dogs
Q36246584Structure and evolution of the filaggrin gene repeated region in primates
Q36297443Study protocol to investigate the environmental and genetic aetiology of atopic dermatitis: the Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI).
Q51002480Substrate elasticity as biomechanical modulator of tissue homeostatic parameters in corneal keratinocytes.
Q35823094Suppression of Tumorigenicity-14, encoding matriptase, is a critical suppressor of colitis and colitis-associated colon carcinogenesis
Q36823123Susceptibility to asthma and eczema from mucosal and epidermal expression of distinctive genes
Q59403414TCF/Lef1-Mediated Control of Lipid Metabolism Regulates Skin Barrier Function
Q48278334Targeted next-generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris.
Q34556081The Atopic March: Progression from Atopic Dermatitis to Allergic Rhinitis and Asthma
Q33773413The Jekyll and Hyde functions of caspases
Q38730103The Molecular Revolution in Cutaneous Biology: EDC and Locus Control.
Q34589244The allergy gene: how a mutation in a skin protein revealed a link between eczema and asthma
Q38704374The atopic march: current insights into skin barrier dysfunction and epithelial cell-derived cytokines.
Q51582462The atopic march: progression from atopic dermatitis to allergic rhinitis and asthma.
Q37406971The biology of cystatin M/E and its cognate target proteases.
Q51939172The development of core learning outcomes relevant to clinical practice: identifying priority areas for genetics education for non-genetics specialist registrars.
Q34355367The genetics of human skin disease
Q40181403The global state of psoriasis disease epidemiology: a workshop report
Q34645453The hepoxilin connection in the epidermis
Q28264599The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' family
Q34556543The ichthyoses. Pathophysiological models of epidermal differentiation
Q34032522The infectious aspects of atopic dermatitis
Q37986624The matriptase-prostasin proteolytic cascade in epithelial development and pathology
Q36291414The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort
Q36946174The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis
Q90503142The role of the skin microbiome in atopic dermatitis
Q38075148The stratum corneum: the rampart of the mammalian body
Q92708306Three rare disease diagnoses in one patient through exome sequencing
Q35553105Thymic stromal lymphopoietin variation, filaggrin loss of function, and the persistence of atopic dermatitis
Q79961887Tightening the epidermal barrier with atypical PKCs
Q61460041Tiled array-based sequencing identifies enrichment of loss-of-function variants in the highly homologous filaggrin gene in African-American children with severe atopic dermatitis
Q46162487Titanium dioxide nanoparticles aggravate atopic dermatitis-like skin lesions in NC/Nga mice
Q28511427Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects
Q35859768Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.
Q58859837Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
Q91676529Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome
Q38360676Unravelling the complex genetic background of atopic dermatitis: from genetic association results towards novel therapeutic strategies
Q64115137Untouchable genes in the human genome: Identifying ideal targets for cancer treatment
Q37167606Update on peptidylarginine deiminases and deimination in skin physiology and severe human diseases.
Q37934841Updated molecular genetics and pathogenesis of ichthiyoses
Q51115827Updates from the British Association of Dermatologists 87 th annual meeting, 10-13 July 2007, Birmingham, U.K.
Q37407574Warm, humid, and high sun exposure climates are associated with poorly controlled eczema: PEER (Pediatric Eczema Elective Registry) cohort, 2004-2012.
Q28706284Whole-genome sequencing in an autism multiplex family
Q43433806Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.
Q54315732X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments.
Q24306117ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation
Q60907515Zinc in Keratinocytes and Langerhans Cells: Relevance to the Epidermal Homeostasis
Q79703339[Associated diseases and differential diagnostic considerations in childhood atopic eczema]
Q48658169[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].
Q80275552[Filaggrin and genodermatosis: role in icthyosis vulgaris and in atopic dermatitis]
Q87140366[Genome-associated studies in chronic inflammatory dermatoses]
Q82906381[New insights into the pathogenesis of sensitive skin]
Q79424195[Outside-inside or inside-outside? Impaired skin barrier as a primary defect in atopic eczema]
Q34123701siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis

Search more.