Published in J Pediatr Endocrinol Metab on November 01, 2006
Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers. Eur J Pediatr (2008) 0.86
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Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. Endocr Connect (2017) 0.75
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet (2006) 9.99
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet (2006) 4.55
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci (2009) 2.71
The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol (2008) 2.53
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol (2006) 2.22
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol (2008) 2.16
Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol (2009) 2.03
Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol (2011) 1.97
Filaggrin in atopic dermatitis. J Allergy Clin Immunol (2008) 1.89
The multifunctional role of filaggrin in allergic skin disease. J Allergy Clin Immunol (2013) 1.74
Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol (2007) 1.71
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol (2011) 1.68
Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum. J Invest Dermatol (2008) 1.67
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol (2006) 1.62
Central corneal thickness and its relationship to intraocular pressure in mucopolysaccararidoses-1 following bone marrow transplantation. J AAPOS (2007) 1.58
Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol (2007) 1.57
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A (2004) 1.56
Purification and molecular characterization of cGMP-dependent protein kinase from Apicomplexan parasites. A novel chemotherapeutic target. J Biol Chem (2002) 1.49
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol (2002) 1.42
A prospective study of the oral manifestations of Crohn's disease. Clin Gastroenterol Hepatol (2005) 1.41
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest (2012) 1.39
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab (2002) 1.33
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. J Allergy Clin Immunol (2013) 1.30
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab (2008) 1.26
Toward the defined and xeno-free differentiation of functional human pluripotent stem cell-derived retinal pigment epithelial cells. Mol Vis (2011) 1.25
Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol (2010) 1.23
Filaggrin in atopic dermatitis. J Allergy Clin Immunol (2009) 1.22
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet A (2004) 1.19
APECED-causing mutations in AIRE reveal the functional domains of the protein. Hum Mutat (2004) 1.16
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet (2012) 1.14
Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet (2009) 1.12
Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus. J Allergy Clin Immunol (2010) 1.12
Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol (2008) 1.12
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A (2011) 1.11
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet (2013) 1.11
Validation of continuous glucose monitoring in children and adolescents with cystic fibrosis: a prospective cohort study. Diabetes Care (2009) 1.10
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A (2003) 1.10
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat (2013) 1.09
Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab (2012) 1.08
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet (2012) 1.08
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. J Allergy Clin Immunol (2012) 1.07
Triglyceride-rich lipoproteins inhibit cholesterol efflux to apolipoprotein (apo) A1 from human macrophage foam cells. Atherosclerosis (2004) 1.07
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet (2004) 1.07
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat (2013) 1.07
Comparative analysis of targeted differentiation of human induced pluripotent stem cells (hiPSCs) and human embryonic stem cells reveals variability associated with incomplete transgene silencing in retrovirally derived hiPSC lines. Stem Cells Transl Med (2013) 1.06
Heritability of childhood weight gain from birth and risk markers for adult metabolic disease in prepubertal twins. J Clin Endocrinol Metab (2009) 1.03
A longitudinal study of the effects of a gluten-free diet on glycemic control and weight gain in subjects with type 1 diabetes and celiac disease. Diabetes Care (2002) 1.03
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. J Clin Endocrinol Metab (2009) 1.03
Genetic markers and population history: Finland revisited. Eur J Hum Genet (2009) 1.02
Characterization of optical coherence topography findings in Kenny-Caffey syndrome. J AAPOS (2007) 1.02
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci (2007) 1.00
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. J Clin Endocrinol Metab (2008) 0.99
Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol (2010) 0.97
Atopic eczema and the filaggrin story. Semin Cutan Med Surg (2008) 0.97
Moebius sequence and hypogonadotrophic hypogonadism. Am J Med Genet A (2003) 0.97
Sickle cell disease and dental treatment. J Ir Dent Assoc (2008) 0.96
Aire deficient mice do not develop the same profile of tissue-specific autoantibodies as APECED patients. J Autoimmun (2006) 0.96
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. J Allergy Clin Immunol (2008) 0.96
Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. Pediatr Dermatol (2007) 0.96
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Hum Mol Genet (2013) 0.95
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet (2003) 0.95
Ichthyosis prematurity syndrome: a case report and review of known mutations. Pediatr Dermatol (2014) 0.94
Bupropion inhibits the cellular effects of nicotine in the ventral tegmental area. Biochem Pharmacol (2007) 0.94
Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol (2010) 0.94
Developmental trends in cord and postpartum serum thyroid hormones in preterm infants. J Clin Endocrinol Metab (2004) 0.92
Systemic therapies for severe atopic dermatitis in children and adults. J Allergy Clin Immunol (2013) 0.92
Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues. Ulster Med J (2007) 0.92
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. Clin Endocrinol (Oxf) (2009) 0.92
Monogenic autoimmune diseases - lessons of self-tolerance. Curr Opin Immunol (2005) 0.91
Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One (2011) 0.91
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. Eur J Hum Genet (2011) 0.90
The role of filaggrin loss-of-function mutations in atopic dermatitis. Curr Opin Allergy Clin Immunol (2008) 0.90
Gender- and gestational age-specific body fat percentage at birth. Pediatrics (2011) 0.90
Functional interaction of AIRE with PIAS1 in transcriptional regulation. Mol Immunol (2008) 0.89
Critical immunological pathways are downregulated in APECED patient dendritic cells. J Mol Med (Berl) (2008) 0.89
N-glycan abnormalities in children with galactosemia. J Proteome Res (2013) 0.89
Congenital insensitivity to pain--review and report of a case with dental implications. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2005) 0.88
Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status. J Allergy Clin Immunol (2013) 0.87
Sunscreens: safety, efficacy and appropriate use. Am J Clin Dermatol (2002) 0.87
Generation of hESC-derived retinal pigment epithelium on biopolymer coated polyimide membranes. Biomaterials (2012) 0.87
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A (2010) 0.87
Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol (2007) 0.86
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. Dev Med Child Neurol (2012) 0.84
The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin alpha molecules. FEBS J (2006) 0.84
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. Am J Hum Genet (2002) 0.84
A smartphone intervention for adolescent obesity: study protocol for a randomised controlled non-inferiority trial. Trials (2014) 0.83
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. Hum Mutat (2005) 0.83
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis (2013) 0.83
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatr Radiol (2011) 0.83
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol (2002) 0.82
Ocular complications of autoimmune polyendocrinopathy syndrome type 1. J AAPOS (2006) 0.82