Published in J Invest Dermatol on January 01, 2004
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol (2008) 1.29
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet (2006) 1.29
Cutaneous and laryngeal squamous cell carcinoma in mixed epidermolysis bullosa, kindler syndrome. Case Rep Dermatol (2012) 0.95
Five new homozygous mutations in the KIND1 gene in Kindler syndrome. J Invest Dermatol (2007) 0.91
Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case. J Periodontol (2008) 0.91
Quercetin is more effective than cromolyn in blocking human mast cell cytokine release and inhibits contact dermatitis and photosensitivity in humans. PLoS One (2012) 0.90
Invasive squamous cell carcinoma of the hand in a patient with Kindler syndrome: Case report and literature review. Can J Plast Surg (2010) 0.90
Functional differences between kindlin-1 and kindlin-2 in keratinocytes. J Cell Sci (2012) 0.90
Adhesion and migration, the diverse functions of the laminin alpha3 subunit. Dermatol Clin (2010) 0.88
Localization and potential function of kindlin-1 in periodontal tissues. Eur J Oral Sci (2009) 0.86
Focal adhesion complex proteins in epidermis and squamous cell carcinoma. Cell Cycle (2013) 0.84
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. Am J Pathol (2009) 0.82
Kindler syndrome in mice and men. Cancer Biol Ther (2014) 0.82
Crystallization and preliminary X-ray crystallographic analysis of the human kindlin-2 PH domain. Acta Crystallogr Sect F Struct Biol Cryst Commun (2011) 0.80
Emergence and subsequent functional specialization of kindlins during evolution of cell adhesiveness. Mol Biol Cell (2014) 0.80
Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization. J Biol Chem (2009) 0.79
Focal adhesion molecule Kindlin-1 mediates activation of TGF-β signaling by interacting with TGF-βRI, SARA and Smad3 in colorectal cancer cells. Oncotarget (2016) 0.75
Kindlin-1 contributes to EGF-induced re-epithelialization in skin wound healing. Int J Mol Med (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
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet (2006) 4.55
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol (2008) 3.72
Filaggrin mutations associated with skin and allergic diseases. N Engl J Med (2011) 3.40
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2008) 3.34
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci U S A (2011) 3.10
Randomised controlled study of early pulsed dye laser treatment of uncomplicated childhood haemangiomas: results of a 1-year analysis. Lancet (2002) 3.07
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet (2005) 3.03
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
Intermediate filament proteins and their associated diseases. N Engl J Med (2004) 2.84
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med (2010) 2.82
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet (2003) 2.73
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
TSH receptor and thyroid-specific gene expression in human skin. J Invest Dermatol (2010) 2.50
Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 2.45
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet (2002) 2.41
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
Prediction of real-world functional disability in chronic mental disorders: a comparison of schizophrenia and bipolar disorder. Am J Psychiatry (2010) 2.35
Azathioprine and UVA light generate mutagenic oxidative DNA damage. Science (2005) 2.31
Demonstration of epitope-spreading phenomena in bullous pemphigoid: results of a prospective multicenter study. J Invest Dermatol (2011) 2.27
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol (2006) 2.22
Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol (2006) 2.17
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol (2008) 2.16
One remarkable molecule: filaggrin. J Invest Dermatol (2011) 2.10
Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol (2006) 2.00
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet (2004) 1.99
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol (2007) 1.98
A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol (2013) 1.98
The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. Hum Mutat (2008) 1.97
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol (2011) 1.97
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Filaggrin in atopic dermatitis. J Allergy Clin Immunol (2008) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Methotrexate treatment in juvenile localized scleroderma: a randomized, double-blind, placebo-controlled trial. Arthritis Rheum (2011) 1.83
Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. J Cell Biol (2002) 1.83
Clinicopathologic features of skin cancer in organ transplant recipients: a retrospective case-control series. J Am Acad Dermatol (2006) 1.74
Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A (2003) 1.72
The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol (2011) 1.70
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol (2011) 1.68
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet (2005) 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
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol (2003) 1.67
Development of therapeutic siRNAs for pachyonychia congenita. J Invest Dermatol (2007) 1.67
Relationship between p53 codon 72 polymorphism and susceptibility to sunburn and skin cancer. J Invest Dermatol (2002) 1.66
Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol (2012) 1.66
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol (2004) 1.63
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol (2006) 1.62
New functions of XPC in the protection of human skin cells from oxidative damage. EMBO J (2006) 1.60
Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity. Allergy (2011) 1.59
Role of IL-12B promoter polymorphism in Adamantiades-Behcet's disease susceptibility: An involvement of Th1 immunoreactivity against Streptococcus Sanguinis antigen. J Invest Dermatol (2006) 1.59
Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res (2005) 1.59
Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol (2007) 1.57
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
Mice overexpressing placenta growth factor exhibit increased vascularization and vessel permeability. J Cell Sci (2002) 1.56
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol (2012) 1.56
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. J Invest Dermatol (2011) 1.54
The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol (2012) 1.52
Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol (2009) 1.51
Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. J Invest Dermatol (2011) 1.51
Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma. Genes Chromosomes Cancer (2008) 1.50
Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol (2007) 1.50