Published in J Am Acad Dermatol on July 01, 2006
Cancer biomarker discovery: the entropic hallmark. PLoS One (2010) 1.26
Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13
The biology of the desmosome-like junction a versatile anchoring junction and signal transducer in the seminiferous epithelium. Int Rev Cell Mol Biol (2011) 1.12
Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry. Curr Opin Cell Biol (2007) 0.99
The desmosomal plaque proteins of the plakophilin family. Dermatol Res Pract (2010) 0.86
Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One (2012) 0.80
Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report. Indian J Dermatol (2015) 0.75
A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome. Mol Syndromol (2014) 0.75
Atopic dermatitis and the atopic march. J Allergy Clin Immunol (2003) 3.92
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
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2008) 3.34
Treatment of Staphylococcus aureus colonization in atopic dermatitis decreases disease severity. Pediatrics (2009) 3.29
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
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med (2010) 2.82
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
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
Phenotype of atopic dermatitis subjects with a history of eczema herpeticum. J Allergy Clin Immunol (2009) 2.00
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol (2007) 1.98
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol (2004) 1.95
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Topical delivery of siRNA-based spherical nucleic acid nanoparticle conjugates for gene regulation. Proc Natl Acad Sci U S A (2012) 1.90
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum (2012) 1.87
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.86
Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol (2002) 1.83
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol (2003) 1.67
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Pediatric morphea (localized scleroderma): review of 136 patients. J Am Acad Dermatol (2008) 1.64
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
Interstitial granulomatous dermatitis with arthritis. Hum Pathol (2004) 1.56
Cost-effectiveness analysis of tacrolimus ointment versus high-potency topical corticosteroids in adults with moderate to severe atopic dermatitis. J Am Acad Dermatol (2003) 1.55
Patient perspectives on the management of atopic dermatitis. J Allergy Clin Immunol (2006) 1.55
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
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet (2013) 1.52
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. J Invest Dermatol (2012) 1.50
Revertant mosaicism in Kindler syndrome. J Invest Dermatol (2011) 1.47
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol (2011) 1.46
Cutaneous silica granuloma: a lesion that might be clinically underdiagnosed. Eur J Dermatol (2005) 1.41
Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22. Am J Hum Genet (2003) 1.40
Impediments to research in pediatric dermatology: the results of a survey of the members of the society for pediatric dermatology. Pediatr Dermatol (2010) 1.39
In which period of injury is resveratrol treatment effective: ischemia or reperfusion? Ann Vasc Surg (2007) 1.39
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet (2003) 1.39
PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A (2011) 1.38
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
Genetic diseases of junctions. J Invest Dermatol (2007) 1.38
Persistent association of nailfold capillaroscopy changes and skin involvement over thirty-six months with duration of untreated disease in patients with juvenile dermatomyositis. Arthritis Rheum (2008) 1.36
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families. Am J Hum Genet (2004) 1.29
Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis. Reprod Biomed Online (2006) 1.28
Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia. Am J Hum Genet (2009) 1.27
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol (2010) 1.25
Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation. J Am Acad Dermatol (2004) 1.22
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet (2006) 1.21
Relationship of the Brief UCSD Performance-based Skills Assessment (UPSA-B) to multiple indicators of functioning in people with schizophrenia and bipolar disorder. Bipolar Disord (2010) 1.19
LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J Invest Dermatol (2005) 1.19
The epidemiology of molluscum contagiosum in children. J Am Acad Dermatol (2005) 1.17
The acanthosis nigricans form of epidermal nevus. J Am Acad Dermatol (2006) 1.17
Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci (2003) 1.16
Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol (2010) 1.16
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol (2002) 1.15
Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13
Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. Pediatr Dermatol (2002) 1.13
Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 1.13
Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol (2006) 1.12
Sensitivity and specificity of the UCSD Performance-based Skills Assessment (UPSA-B) for identifying functional milestones in schizophrenia. Schizophr Res (2011) 1.11
Kindler syndrome. Dermatol Clin (2010) 1.11
The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol (2009) 1.10
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet (2008) 1.10
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol (2006) 1.10
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet (2012) 1.08
Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res (2012) 1.07
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol (2006) 1.07
Suppression of epidermal growth factor receptor signaling by protein kinase C-alpha activation requires CD82, caveolin-1, and ganglioside. Cancer Res (2007) 1.06
Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J Invest Dermatol (2013) 1.04
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol (2006) 1.04
Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol (2003) 1.04
Novel molecular therapies for heritable skin disorders. J Invest Dermatol (2011) 1.03
Revertant mosaicism in skin: natural gene therapy. Trends Mol Med (2010) 1.03
Effectiveness of imiquimod cream 5% for treating childhood molluscum contagiosum in a double-blind, randomized pilot trial. Cutis (2004) 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
Multifunctional skin-like electronics for quantitative, clinical monitoring of cutaneous wound healing. Adv Healthc Mater (2014) 1.02
Erythema dyschromicum perstans in prepubertal children. Pediatr Dermatol (2003) 1.02
Extrafacial and generalized granulomatous periorificial dermatitis. Arch Dermatol (2002) 1.01
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci (2009) 1.01
Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord (2010) 0.99
Atopic dermatitis: epidemiology and pathogenesis update. Semin Cutan Med Surg (2012) 0.99
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet (2011) 0.99
Kawasaki disease: part I. Diagnosis, clinical features, and pathogenesis. J Am Acad Dermatol (2013) 0.99
Tacrolimus ointment promotes repigmentation of vitiligo in children: a review of 57 cases. J Am Acad Dermatol (2004) 0.98
Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol (2010) 0.98
A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol (2010) 0.98
Incontinentia pigmenti in male patients. J Am Acad Dermatol (2006) 0.98
Novel mutation in a child with Goltz syndrome. Indian J Pediatr (2011) 0.98
Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation. Acta Derm Venereol (2009) 0.96
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci (2007) 0.96
Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology (2011) 0.96
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
Ganglioside induces caveolin-1 redistribution and interaction with the epidermal growth factor receptor. J Biol Chem (2002) 0.95
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet (2010) 0.95
Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases. J Dermatol Sci (2005) 0.95
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol (2002) 0.95
Kawasaki disease: part II. Complications and treatment. J Am Acad Dermatol (2013) 0.94