Published in J Invest Dermatol on January 08, 2009
Control of somatic tissue differentiation by the long non-coding RNA TINCR. Nature (2012) 3.08
Autosomal recessive congenital ichthyosis. J Invest Dermatol (2009) 1.80
Mammalian lipoxygenases and their biological relevance. Biochim Biophys Acta (2014) 1.04
Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet (2012) 1.02
Role of fatty acid transporters in epidermis: Implications for health and disease. Dermatoendocrinol (2011) 0.91
The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier. Biochim Biophys Acta (2013) 0.85
Distinguishing ichthyoses by protein profiling. PLoS One (2013) 0.82
The role of lipoxygenases in pathophysiology; new insights and future perspectives. Redox Biol (2015) 0.81
Recent advances in understanding ichthyosis pathogenesis. F1000Res (2016) 0.78
Lipoxygenase pathways in Homo neanderthalensis: functional comparison with Homo sapiens isoforms. J Lipid Res (2013) 0.77
NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology (2009) 0.77
Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report. Iran J Public Health (2015) 0.75
Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function. Cell Death Dis (2015) 0.75
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction. Int J Mol Sci (2015) 0.75
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
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet (2004) 3.13
A European training system in cardiothoracic surgery: is it time? Eur J Cardiothorac Surg (2012) 2.89
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
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
The impact of acute and chronic graft-versus-host disease on normal and malignant B-lymphoid precursors after allogeneic stem cell transplantation for B-lineage acute lymphoblastic leukemia. Haematologica (2006) 2.13
Efficiency of fleece-bound sealing (TachoSil) of air leaks in lung surgery: a prospective randomised trial. Eur J Cardiothorac Surg (2006) 2.13
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. Am J Dermatopathol (2005) 2.09
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Diagnostic applicability of in vivo confocal laser scanning microscopy in melanocytic skin tumors. J Invest Dermatol (2005) 1.88
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
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol (2010) 1.71
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
Itraconazole in the treatment of tinea capitis caused by Microsporum canis: experience in a large cohort. Pediatr Dermatol (2004) 1.55
Adipocyte differentiation of 3T3-L1 preadipocytes is dependent on lipoxygenase activity during the initial stages of the differentiation process. Biochem J (2003) 1.52
Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney Int (2004) 1.46
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
Phase II trial of a toll-like receptor 9-activating oligonucleotide in patients with metastatic melanoma. J Clin Oncol (2006) 1.41
[Impact of initial cytomegalovirus viral load on efficacy of preemptive therapy with ganciclovir in allogeneic stem cell transplant recipients]. Enferm Infecc Microbiol Clin (2009) 1.41
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
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
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. J Hum Genet (2006) 1.38
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
12R-lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol (2007) 1.32
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A (2005) 1.29
Severe infections after unrelated donor allogeneic hematopoietic stem cell transplantation in adults: comparison of cord blood transplantation with peripheral blood and bone marrow transplantation. Biol Blood Marrow Transplant (2006) 1.28
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
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
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol (2007) 1.25
Progress of medical students after open admission or admission based on knowledge tests. Med Educ (2010) 1.24
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
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. Kidney Int (2005) 1.21
Impact of end-stage renal disease care in planned dialysis start and type of renal replacement therapy--a Spanish multicentre experience. Nephrol Dial Transplant (2006) 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
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
Sensitivity and specificity of confocal laser-scanning microscopy for in vivo diagnosis of malignant skin tumors. Cancer (2006) 1.18
Mutations in IL36RN in patients with generalized pustular psoriasis. J Invest Dermatol (2013) 1.17
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet (2008) 1.16
Analysis of patient flow into dialysis: role of education in choice of dialysis modality. Perit Dial Int (2005) 1.16
Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet (2012) 1.16
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
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
Epidemiology of tinea capitis in Europe: current state and changing patterns. Mycoses (2007) 1.10
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta (2008) 1.10
ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol (2006) 1.08
Processing of procollagen III by meprins: new players in extracellular matrix assembly? J Invest Dermatol (2010) 1.07
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
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol (2013) 1.07
Assessment of heavy metal levels in Almendares River sediments--Havana City, Cuba. Water Res (2005) 1.07
Induced pluripotent mesenchymal stromal cell clones retain donor-derived differences in DNA methylation profiles. Mol Ther (2012) 1.07
15-lipoxygenase-1 production is lost in pancreatic cancer and overexpression of the gene inhibits tumor cell growth. Neoplasia (2007) 1.07
Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. J Invest Dermatol (2010) 1.07
Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis. J Invest Dermatol (2006) 1.07
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
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
Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol (2009) 1.04
Three-year clinical evaluation of In-Ceram Zirconia posterior FPDs. Int J Prosthodont (2004) 1.04
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements. J Lab Clin Med (2006) 1.03
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol (2008) 1.02
Ultrasound guidance for lateral midfemoral sciatic nerve block: a prospective, comparative, randomized study. Anesth Analg (2007) 1.02
In vivo reflectance confocal microscopy of erythematosquamous skin diseases. Exp Dermatol (2009) 1.01
SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol (2004) 1.01
Topical imiquimod in the treatment of metastatic melanoma to skin. Arch Dermatol (2003) 1.01
Inducible expression of 15-lipoxygenase-2 and 8-lipoxygenase inhibits cell growth via common signaling pathways. J Lipid Res (2006) 1.00
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
Prevalence of tinea capitis in Southeastern Austria between 1985 and 2008: up-to-date picture of the current situation. Mycoses (2011) 0.99
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
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
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
Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediat (2006) 0.98
Teledermatopathology: a controlled study about diagnostic validity and technical requirements for digital transmission. Am J Dermatopathol (2006) 0.96