Published in Am J Pathol on January 29, 2009
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Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice. Am J Pathol (2010) 0.84
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Topical hesperidin enhances epidermal function in an aged murine model. J Invest Dermatol (2014) 0.76
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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. Am J Hum Genet (2017) 0.75
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. PLoS One (2016) 0.75
Conjugate export pumps of the multidrug resistance protein (MRP) family: localization, substrate specificity, and MRP2-mediated drug resistance. Biochim Biophys Acta (1999) 1.99
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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
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest (2005) 1.92
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Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem (2001) 1.08
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet (2008) 1.07
Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr (2004) 1.07
PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. J Invest Dermatol (2007) 1.07
Human epidermal glucosylceramides are major precursors of stratum corneum ceramides. J Invest Dermatol (2002) 1.07
Calcium induction of transglutaminase and the formation of epsilon(gamma-glutamyl) lysine cross-links in cultured mouse epidermal cells. Biochem Biophys Res Commun (1981) 0.98
Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiation. J Invest Dermatol (1997) 0.94
In vitro characterization of an artificial dermal scaffold. Tissue Eng (2001) 0.93
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Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology (1997) 0.92
A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol (2007) 0.90
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Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol (2007) 0.88
A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. Br J Dermatol (1996) 0.87
Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. Am J Pathol (2007) 0.87
Evidence that stratum corneum chymotryptic enzyme is transported to the stratum corneum extracellular space via lamellar bodies. J Invest Dermatol (1995) 0.84
Harlequin fetus: a case report. Surg Radiol Anat (1999) 0.84
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The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 2.45
Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med (2011) 2.41
Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5. J Cell Sci (2009) 2.30
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Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. J Cell Biol (2002) 1.83
Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res (2005) 1.59
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol (2009) 1.51
Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer (2007) 1.39
EHD1 interacts with retromer to stabilize SNX1 tubules and facilitate endosome-to-Golgi retrieval. Traffic (2007) 1.38
Cell-cell connectivity: desmosomes and disease. J Pathol (2011) 1.36
Matrix metalloproteinases and epidermal wound repair. Cell Tissue Res (2012) 1.22
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet (2012) 1.18
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol (2006) 1.12
ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol (2006) 1.08
p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. J Invest Dermatol (2004) 1.08
Identification of a conserved motif required for Vps35p/Vps26p interaction and assembly of the retromer complex. Biochem J (2007) 1.05
Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. J Cell Sci (2007) 1.04
Recent advances in the genetics and management of harlequin ichthyosis. Pediatr Dermatol (2014) 1.03
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci (2009) 1.01
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
Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma. Dermatol Clin (2010) 0.97
Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. Hum Genet (2004) 0.96
Key functions for gap junctions in skin and hearing. Biochem J (2011) 0.95
Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. Int J Cancer (2011) 0.95
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol (2012) 0.94
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet (2013) 0.94
Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Invest Dermatol (2005) 0.94
Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut (2012) 0.93
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. J Cell Sci (2005) 0.93
GLI1 repression of ERK activity correlates with colony formation and impaired migration in human epidermal keratinocytes. Carcinogenesis (2008) 0.92
Connexins in epidermal homeostasis and skin disease. Biochim Biophys Acta (2011) 0.92
Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Proc Natl Acad Sci U S A (2006) 0.91
Stem/progenitor cell-like properties of desmoglein 3dim cells in primary and immortalized keratinocyte lines. Stem Cells (2007) 0.90
A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol (2007) 0.90
Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Oncogene (2002) 0.89
p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis. Dev Cell (2011) 0.89
The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen. J Invest Dermatol (2002) 0.89
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet (2002) 0.88
Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest Ophthalmol Vis Sci (2002) 0.87
Non-junctional human desmoglein 3 acts as an upstream regulator of Src in E-cadherin adhesion, a pathway possibly involved in the pathogenesis of pemphigus vulgaris. J Pathol (2012) 0.86
EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum Mol Genet (2009) 0.86
Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun (2002) 0.86
Ultra-deformable liposomes containing bleomycin: in vitro stability and toxicity on human cutaneous keratinocyte cell lines. Int J Pharm (2005) 0.86
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet (2002) 0.85
Keratins and skin disease. Cell Tissue Res (2015) 0.85
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol (2010) 0.85
Rhomboid proteins: a role in keratinocyte proliferation and cancer. Cell Tissue Res (2012) 0.85
The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. J Cell Sci (2012) 0.83
Cellular mechanisms of mutant connexins in skin disease and hearing loss. Cell Commun Adhes (2003) 0.83
Acute sun damage and photoprotective responses in whales. Proc Biol Sci (2010) 0.83
Axl promotes cutaneous squamous cell carcinoma survival through negative regulation of pro-apoptotic Bcl-2 family members. J Invest Dermatol (2010) 0.82
Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell Tissue Res (2012) 0.80
Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. Hum Mol Genet (2006) 0.80
Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. Dis Model Mech (2012) 0.80
R-spondins in cutaneous biology: nails and cancer. Cell Cycle (2007) 0.79
SPINK5: both rare and common skin disease. Trends Mol Med (2002) 0.79
Double jeopardy: Ras and CDK4 co-expression in skin cancer. Trends Mol Med (2002) 0.78
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J Invest Dermatol (2012) 0.78
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. Pediatr Dermatol (2008) 0.77
Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes. Cell Commun Adhes (2014) 0.77
Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast. Mod Pathol (2008) 0.76
Junctions in human health and inherited disease. Cell Tissue Res (2015) 0.75
Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res (2010) 0.75
Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways. Sci Rep (2017) 0.75
Platelike osteoma cutis. J Am Acad Dermatol (2011) 0.75
Current insights into protease dynamics in human epithelial disease and barrier function. Cell Tissue Res (2013) 0.75