Published in Exp Dermatol on November 01, 2012
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
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet (2007) 2.75
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats. Nucleic Acids Res (2006) 2.64
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol (2009) 2.58
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
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
Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. J Clin Invest (2003) 2.09
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in Caucasian and Chinese Hans population. J Invest Dermatol (2004) 1.87
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
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol (2003) 1.80
High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis. J Invest Dermatol (2005) 1.78
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol (2004) 1.58
Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney Int (2004) 1.46
Increased angiogenesis and blood vessel maturation in acellular collagen-heparin scaffolds containing both FGF2 and VEGF. Biomaterials (2006) 1.44
Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol (2006) 1.38
Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol (2008) 1.32
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
The alpha and beta subunits of the metalloprotease meprin are expressed in separate layers of human epidermis, revealing different functions in keratinocyte proliferation and differentiation. J Invest Dermatol (2007) 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
TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele. Arthritis Rheum (2007) 1.19
Mutations in IL36RN in patients with generalized pustular psoriasis. J Invest Dermatol (2013) 1.17
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
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients. Ann Rheum Dis (2009) 1.13
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
Processing of procollagen III by meprins: new players in extracellular matrix assembly? J Invest Dermatol (2010) 1.07
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol (2013) 1.07
Induced pluripotent mesenchymal stromal cell clones retain donor-derived differences in DNA methylation profiles. Mol Ther (2012) 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
Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis. J Invest Dermatol (2006) 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
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet (2010) 1.05
The substrate degradome of meprin metalloproteases reveals an unexpected proteolytic link between meprin β and ADAM10. Cell Mol Life Sci (2012) 1.05
Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol (2009) 1.04
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
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
Association of β-defensin copy number and psoriasis in three cohorts of European origin. J Invest Dermatol (2012) 1.02
Skin microbiome imbalance in patients with STAT1/STAT3 defects impairs innate host defense responses. J Innate Immun (2013) 1.02
SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol (2004) 1.01
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet (2002) 1.00
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. J Invest Dermatol (2009) 1.00
Nonsyndromic types of ichthyoses - an update. J Dtsch Dermatol Ges (2013) 0.99
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A (2007) 0.99
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology (2011) 0.98
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet (2011) 0.98
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
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
Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol (2003) 0.97
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. Hum Mol Genet (2008) 0.97
Microbiome and skin diseases. Curr Opin Allergy Clin Immunol (2013) 0.97