Published in Exp Dermatol on October 01, 2014
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res (2006) 2.64
Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet (2006) 2.30
Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Ann Neurol (2009) 2.26
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet (2007) 2.11
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01
Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J Invest Dermatol (2004) 1.97
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis. J Invest Dermatol (2005) 1.78
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol (2004) 1.58
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet (2005) 1.54
Increased angiogenesis and blood vessel maturation in acellular collagen-heparin scaffolds containing both FGF2 and VEGF. Biomaterials (2006) 1.44
Large-scale identification of human genes implicated in epidermal barrier function. Genome Biol (2007) 1.31
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol (2009) 1.26
Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet (2003) 1.26
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J Cell Sci (2009) 1.23
Coal tar induces AHR-dependent skin barrier repair in atopic dermatitis. J Clin Invest (2013) 1.23
Transcriptional response of bronchial epithelial cells to Pseudomonas aeruginosa: identification of early mediators of host defense. Physiol Genomics (2005) 1.23
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet (2005) 1.16
Microbiome dynamics of human epidermis following skin barrier disruption. Genome Biol (2012) 1.15
Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects. Arthritis Rheum (2004) 1.13
Update on the epidermal differentiation complex. Front Biosci (Landmark Ed) (2012) 1.10
Cystatin M/E is a high affinity inhibitor of cathepsin V and cathepsin L by a reactive site that is distinct from the legumain-binding site. A novel clue for the role of cystatin M/E in epidermal cornification. J Biol Chem (2006) 1.10
Development and validation of human psoriatic skin equivalents. Am J Pathol (2008) 1.09
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A (2013) 1.08
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet (2010) 1.07
Psoriasis risk genes of the late cornified envelope-3 group are distinctly expressed compared with genes of other LCE groups. Am J Pathol (2011) 1.07
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet (2003) 1.07
Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin. PLoS One (2009) 1.06
Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders. BMC Genomics (2011) 1.06
An allosteric intramolecular PDZ-PDZ interaction modulates PTP-BL PDZ2 binding specificity. Biochemistry (2007) 1.05
Attenuation of melanoma invasion by a secreted variant of activated leukocyte cell adhesion molecule. Cancer Res (2008) 1.03
Human single-chain antibodies reactive with native chondroitin sulfate detect chondroitin sulfate alterations in melanoma and psoriasis. J Invest Dermatol (2004) 1.03
Association of β-defensin copy number and psoriasis in three cohorts of European origin. J Invest Dermatol (2012) 1.02
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet (2008) 1.02
Skin microbiome imbalance in patients with STAT1/STAT3 defects impairs innate host defense responses. J Innate Immun (2013) 1.02
Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network. Invest Ophthalmol Vis Sci (2009) 1.01
Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition. Connect Tissue Res (2007) 0.98
A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification. Hum Mol Genet (2002) 0.97
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat (2006) 0.97
Microbiome and skin diseases. Curr Opin Allergy Clin Immunol (2013) 0.97
A comprehensive analysis of pattern recognition receptors in normal and inflamed human epidermis: upregulation of dectin-1 in psoriasis. J Invest Dermatol (2010) 0.97
A proteomics platform combining depletion, multi-lectin affinity chromatography (M-LAC), and isoelectric focusing to study the breast cancer proteome. Anal Chem (2011) 0.96
Interactions of human tenascin-X domains with dermal extracellular matrix molecules. Arch Dermatol Res (2006) 0.96
Rho kinase inhibitor Y-27632 prolongs the life span of adult human keratinocytes, enhances skin equivalent development, and facilitates lentiviral transduction. Tissue Eng Part A (2012) 0.96
MPP1 links the Usher protein network and the Crumbs protein complex in the retina. Hum Mol Genet (2007) 0.95
Differential gene expression in premalignant human epidermis revealed by cluster analysis of serial analysis of gene expression (SAGE) libraries. FASEB J (2001) 0.95
Altered MAP kinase phosphorylation and impaired motor coordination in PTPRR deficient mice. J Neurochem (2007) 0.95
A large-scale multi-technique approach identifies forty-nine new players of keratinocyte terminal differentiation in human epidermis. Exp Dermatol (2011) 0.95
A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis. J Biol Chem (2005) 0.94
Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol (2010) 0.94
Tumor necrosis factor related apoptosis inducing ligand triggers apoptosis in dividing but not in differentiating human epidermal keratinocytes. J Invest Dermatol (2003) 0.93
Protein tyrosine phosphatases in glioma biology. Acta Neuropathol (2009) 0.92
Hypertrophic scar formation is associated with an increased number of epidermal Langerhans cells. J Pathol (2004) 0.92
Type 2 helper T-cell cytokines induce morphologic and molecular characteristics of atopic dermatitis in human skin equivalent. Am J Pathol (2011) 0.92
A partial transcriptome of human epidermis. Genomics (2002) 0.90
Host defense effector molecules in mucosal secretions. FEMS Immunol Med Microbiol (2005) 0.90
Discovery of small molecule vanin inhibitors: new tools to study metabolism and disease. ACS Chem Biol (2013) 0.90
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol Vis (2010) 0.90
Immunohistochemical expression of SKALP/elafin in squamous cell carcinoma of human lung. Oncol Rep (2002) 0.89
Drosomycin-like defensin, a human homologue of Drosophila melanogaster drosomycin with antifungal activity. Antimicrob Agents Chemother (2008) 0.89
Strong induction of AIM2 expression in human epidermis in acute and chronic inflammatory skin conditions. Exp Dermatol (2012) 0.89
Sustained efficacy of the monoclonal anti-interleukin-1 beta antibody canakinumab in a 9-month trial in Schnitzler's syndrome. Ann Rheum Dis (2012) 0.88