Published in Am J Dermatopathol on June 01, 2005
Genetic ablation of vitamin D activation pathway reverses biochemical and skeletal anomalies in Fgf-23-null animals. Am J Pathol (2006) 1.75
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol (2009) 1.51
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet (2005) 1.43
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. Am J Dermatopathol (2006) 1.40
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta (2008) 1.10
Molecular pathology of the fibroblast growth factor family. Hum Mutat (2009) 1.06
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. Biochim Biophys Acta (2008) 0.92
Changes in the profile of simple mucin-type O-glycans and polypeptide GalNAc-transferases in human testis and testicular neoplasms are associated with germ cell maturation and tumour differentiation. Virchows Arch (2007) 0.85
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. Acta Orthop (2009) 0.84
Phosphatonins: physiological role and pathological changes. Clin Cases Miner Bone Metab (2012) 0.79
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet (2004) 3.13
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
IL-22-producing "T22" T cells account for upregulated IL-22 in atopic dermatitis despite reduced IL-17-producing TH17 T cells. J Allergy Clin Immunol (2009) 2.77
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem (2006) 2.68
Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology. EMBO J (2013) 2.58
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
Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family. Glycobiology (2011) 2.56
The autologous serum skin test in a cohort of chronic idiopathic urticaria patients compared to respiratory allergy patients and healthy individuals. J Eur Acad Dermatol Venereol (2007) 2.20
Gap junctions: basic structure and function. J Invest Dermatol (2007) 2.09
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Mining the O-glycoproteome using zinc-finger nuclease-glycoengineered SimpleCell lines. Nat Methods (2011) 1.92
Low expression of the IL-23/Th17 pathway in atopic dermatitis compared to psoriasis. J Immunol (2008) 1.90
Seromic profiling of colorectal cancer patients with novel glycopeptide microarray. Int J Cancer (2011) 1.84
Cancer biomarkers defined by autoantibody signatures to aberrant O-glycopeptide epitopes. Cancer Res (2010) 1.79
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol (2010) 1.71
Positive patch test reactions to allergens of the dental series and the relation to the clinical presentations. Contact Dermatitis (2006) 1.69
Major differences in inflammatory dendritic cells and their products distinguish atopic dermatitis from psoriasis. J Allergy Clin Immunol (2007) 1.60
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet (2006) 1.57
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet (2007) 1.56
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
Consequences of depleted SERCA2-gated calcium stores in the skin. J Invest Dermatol (2006) 1.53
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet (2005) 1.51
Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. J Allergy Clin Immunol (2009) 1.50
Chemoenzymatically synthesized multimeric Tn/STn MUC1 glycopeptides elicit cancer-specific anti-MUC1 antibody responses and override tolerance. Glycobiology (2005) 1.50
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol (2007) 1.48
A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa. Am J Dermatopathol (2003) 1.44
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. Hum Genet (2005) 1.43
Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3. Am J Dermatopathol (2006) 1.40
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med (Berl) (2004) 1.40
Clinical and imaging findings in patients with neurosyphilis: a study of a cohort and review of the literature. Int J Dermatol (2013) 1.39
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet (2006) 1.38
Identification of a novel cancer-specific immunodominant glycopeptide epitope in the MUC1 tandem repeat. Glycobiology (2006) 1.35
Aberrant expression of mucin core proteins and o-linked glycans associated with progression of pancreatic cancer. Clin Cancer Res (2013) 1.28
Targeting the function of IFN-gamma-inducible protein 10 suppresses ongoing adjuvant arthritis. J Immunol (2002) 1.27
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol (2008) 1.27
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. Am J Hum Genet (2008) 1.27
Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43. J Cell Sci (2003) 1.27
Tumor-associated Tn-MUC1 glycoform is internalized through the macrophage galactose-type C-type lectin and delivered to the HLA class I and II compartments in dendritic cells. Cancer Res (2007) 1.26
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol (2007) 1.25
Probing isoform-specific functions of polypeptide GalNAc-transferases using zinc finger nuclease glycoengineered SimpleCells. Proc Natl Acad Sci U S A (2012) 1.22
The lectin domains of polypeptide GalNAc-transferases exhibit carbohydrate-binding specificity for GalNAc: lectin binding to GalNAc-glycopeptide substrates is required for high density GalNAc-O-glycosylation. Glycobiology (2007) 1.21
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. Kidney Int (2005) 1.21
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol (2004) 1.21
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
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
Identification of new cancer biomarkers based on aberrant mucin glycoforms by in situ proximity ligation. J Cell Mol Med (2012) 1.19
Suppression of ongoing adjuvant-induced arthritis by neutralizing the function of the p28 subunit of IL-27. J Immunol (2004) 1.17
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet (2008) 1.16
Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet (2012) 1.16
Over-expression of ST3Gal-I promotes mammary tumorigenesis. Glycobiology (2010) 1.14
Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. J Am Acad Dermatol (2005) 1.11
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation. J Clin Invest (2013) 1.11
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta (2008) 1.10
Attenuation of 6-hydroxydopamine (6-OHDA)-induced nuclear factor-kappaB (NF-kappaB) activation and cell death by tea extracts in neuronal cultures. Biochem Pharmacol (2002) 1.10
A serial lectin approach to the mucin-type O-glycoproteome of Drosophila melanogaster S2 cells. Proteomics (2007) 1.09
ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol (2006) 1.08
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. J Invest Dermatol (2006) 1.08
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study. Arch Dermatol (2005) 1.07
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. J Invest Dermatol (2010) 1.07
Suppression of ongoing experimental autoimmune encephalomyelitis by neutralizing the function of the p28 subunit of IL-27. J Immunol (2004) 1.05
Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol (2005) 1.05
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A (2013) 1.04
The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell (2011) 1.04
Involvement of O-glycosylation defining oncofetal fibronectin in epithelial-mesenchymal transition process. Proc Natl Acad Sci U S A (2011) 1.03
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol (2008) 1.02
The cell-layer- and cell-type-specific distribution of GalNAc-transferases in the ocular surface epithelia is altered during keratinization. Invest Ophthalmol Vis Sci (2003) 1.01
Progress in epidermolysis bullosa: genetic classification and clinical implications. Am J Med Genet C Semin Med Genet (2004) 1.01
Site-specific O-glycosylation on the MUC2 mucin protein inhibits cleavage by the Porphyromonas gingivalis secreted cysteine protease (RgpB). J Biol Chem (2013) 1.01
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
The beneficial effect of blocking Kv1.3 in the psoriasiform SCID mouse model. J Invest Dermatol (2010) 0.99
ADULT syndrome caused by a mutation previously associated with EEC syndrome. Pediatr Dermatol (2010) 0.99
The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. J Am Acad Dermatol (2010) 0.98
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. Genet Med (2012) 0.98
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Laryngoscope (2006) 0.97
Sialylated core 1 based O-linked glycans enhance the growth rate of mammary carcinoma cells in MUC1 transgenic mice. Int J Oncol (2004) 0.97
Identification of mutations in the human hairless gene in two new families with congenital atrichia. Arch Dermatol Res (2007) 0.96