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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2012, Volume 129, Issue 4, pp. 1031 - 1039.e1
Background Filaggrin (FLG) mutations result in reduced stratum corneum (SC) natural moisturizing factor (NMF) components and consequent increased SC pH.... 
Allergy and Immunology | skin barrier | transepidermal water loss | confocal Raman spectroscopy | Flgft/Flgft (FlgdelAPfal) mice | Atopic dermatitis | IL-1 | IL-18 | FLG gene mutations | eczema | filaggrin | natural moisturizing factor | pH | UNCONVENTIONAL PROTEIN SECRETION | INTERLEUKIN-1 RECEPTOR ANTAGONIST | TERM CULTURE | IMMUNOLOGY | PERMEABILITY BARRIER HOMEOSTASIS | HUMAN KERATINOCYTES | IN-VITRO | ALLERGY | Flg(ft)/Flg(ft)(Flg(delAPfal)) mice | EPIDERMIS | IL-1-BETA | Interleukin-1 - genetics | Interleukin-1 - metabolism | Dermatitis, Atopic - genetics | Cytokines - metabolism | Skin - metabolism | Humans | Mice, Inbred C57BL | Child, Preschool | Genotype | Infant | Male | Mice, Knockout | Animals | Adolescent | Alleles | Intermediate Filament Proteins - genetics | Female | Mice | Mutation | Child | Dermatitis, Atopic - metabolism | Intermediate Filament Proteins - metabolism | Hydrogen-Ion Concentration | Medical colleges | Cytokines | Proteases | Genes | Respiratory agents | Genetic aspects | Skin | Inflammation | Universities and colleges | Dermatitis | Proteins | Enzymes | Genotype & phenotype | Hypotheses | Families & family life | Values | Homeostasis | Animal models | Stratum corneum | Interleukin 1 receptor antagonist | Proteinase | Keratinocytes | mRNA | Filaggrin | Raman spectroscopy | pH effects | Tails | Interleukin 18 | Polymerase chain reaction | Water loss | Primers | Interleukin 1 | Interleukin 8 | Index Medicus | Abridged Index Medicus | FLG | SC, Stratum corneum | Flgft | Patient homozygous for null alleles (ie, 2 null alleles) | AD, Atopic dermatitis | FLG, Filaggrin gene | Homozygote wild-type (ie, 0 null alleles) | TEWL, Transepidermal water loss | Heterozygote null allele | Flgft (FlgdelAPfal) mice | IL-1RA, IL-1 receptor antagonist | wild-type (ie, 1 null allele) | NMF, Natural moisturizing factor | ADFLG, AD with FLG mutations | Atopic Dermatitis and Skin Disease | NESS, Nottingham Eczema Severity Score | ADNON-FLG, AD without FLG mutations
Journal Article
Translational Research, ISSN 1931-5244, 2015, Volume 166, Issue 5, pp. 502 - 507.e2
Journal Article
Movement Disorders, ISSN 0885-3185, 07/2018, Volume 33, Issue 7, pp. 1178 - 1181
Journal Article
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 01/2010, Volume 153, Issue 1, pp. 314 - 320
Journal Article
Journal Article
Journal Article
Journal of Molecular Diagnostics, ISSN 1525-1578, 11/2014, Volume 16, Issue 6, pp. 689 - 696
Triple-primed PCR assays have become the preferred fragile X syndrome testing method. Using a commercially available assay, we detected a reproducible extra... 
PREMUTATION | INSTABILITY | PROTEIN | FULL MUTATION | GENE | NEWBORN | CGG REPEAT | FRAGILE-X-SYNDROME | INTERMEDIATE | EXPANDED ALLELES | PATHOLOGY | Humans | Child, Preschool | Aneuploidy | Male | DNA Primers | Polymerase Chain Reaction - methods | Young Adult | Artifacts | Base Sequence | Alleles | Adult | Female | Mosaicism | Fragile X Mental Retardation Protein - genetics | Child | Index Medicus
Journal Article