Published in J Invest Dermatol on February 01, 2003
Trappin-2/Elafin: a novel innate anti-human immunodeficiency virus-1 molecule of the human female reproductive tract. Immunology (2009) 1.37
Anti-HIV-1 activity of elafin is more potent than its precursor's, trappin-2, in genital epithelial cells. J Virol (2012) 0.88
Genetic polymorphisms of peptidase inhibitor 3 (elafin) are associated with acute respiratory distress syndrome. Am J Respir Cell Mol Biol (2009) 0.87
Identification of novel functional sequence variants in the gene for peptidase inhibitor 3. BMC Med Genet (2006) 0.85
Human rElafin Inhibits HIV-1 Replication in Its Natural Target Cells. Biores Open Access (2013) 0.77
Functional characterization of polymorphisms in the peptidase inhibitor 3 (elafin) gene and validation of their contribution to risk of acute respiratory distress syndrome. Am J Respir Cell Mol Biol (2014) 0.77
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
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
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
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
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Ann Neurol (2009) 2.26
Clinical significance of de novo and inherited copy-number variation. Hum Mutat (2013) 2.08
Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscul Disord (2013) 2.01
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet (2009) 1.85
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
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
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis. J Invest Dermatol (2005) 1.78
Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol (2010) 1.75
Chemokine induction by all-trans retinoic acid and arsenic trioxide in acute promyelocytic leukemia: triggering the differentiation syndrome. Blood (2009) 1.74
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat (2009) 1.71
De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet (2011) 1.69
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. J Clin Invest (2012) 1.66
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol (2004) 1.58
Reduced purifying selection prevails over positive selection in human copy number variant evolution. Genome Res (2008) 1.54
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet (2010) 1.50
Increased angiogenesis and blood vessel maturation in acellular collagen-heparin scaffolds containing both FGF2 and VEGF. Biomaterials (2006) 1.44
Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene. Cancer Res (2006) 1.41
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet (2009) 1.40
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39
Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat (2013) 1.32
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat (2009) 1.30
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia (2010) 1.29
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
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A (2008) 1.24
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
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet (2011) 1.11
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
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet (2013) 1.08
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur 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
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet (2012) 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
Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization. Blood (2004) 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
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 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
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Am J Hum Genet (2011) 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 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
Microbiome and skin diseases. Curr Opin Allergy Clin Immunol (2013) 0.97
Interactions of human tenascin-X domains with dermal extracellular matrix molecules. Arch Dermatol Res (2006) 0.96
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion. Am J Med Genet A (2008) 0.96
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
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
Homozygosity mapping in outbred families with mental retardation. Eur J Hum Genet (2011) 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
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
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet (2009) 0.93
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
Immunohistochemical expression of SKALP/elafin in squamous cell carcinoma of human lung. Oncol Rep (2002) 0.89
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet (2006) 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
Expression of the vanin gene family in normal and inflamed human skin: induction by proinflammatory cytokines. J Invest Dermatol (2009) 0.88
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet (2011) 0.88
The biology of cystatin M/E and its cognate target proteases. J Invest Dermatol (2009) 0.88
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia (2014) 0.87
Genetics of psoriasis: evidence for epistatic interaction between skin barrier abnormalities and immune deviation. J Invest Dermatol (2012) 0.87
Genetically programmed differences in epidermal host defense between psoriasis and atopic dermatitis patients. PLoS One (2008) 0.87
Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasms. Pathol Oncol Res (2014) 0.87
Colocalization of cystatin M/E and cathepsin V in lamellar granules and corneodesmosomes suggests a functional role in epidermal differentiation. J Invest Dermatol (2006) 0.87
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. Dev Med Child Neurol (2007) 0.86
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. Am J Med Genet A (2014) 0.86
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. Proc Natl Acad Sci U S A (2013) 0.86
Phenotypical and functional differences in germinative subpopulations derived from normal and psoriatic epidermis. J Invest Dermatol (2005) 0.86
Silencing of cystatin M in metastatic oral cancer cell line MDA-686Ln by siRNA increases cysteine proteinases and legumain activities, cell proliferation and in vitro invasion. Life Sci (2005) 0.86
Effect of daily stressors on psoriasis: a prospective study. J Invest Dermatol (2009) 0.86
Evidence that unrestricted legumain activity is involved in disturbed epidermal cornification in cystatin M/E deficient mice. Hum Mol Genet (2004) 0.86
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. Eur J Med Genet (2012) 0.86
Exome sequencing and whole genome sequencing for the detection of copy number variation. Expert Rev Mol Diagn (2015) 0.85