PubRank

Giovanna Zambruno

Author PubWeight™ 85.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 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
2 TSH receptor and thyroid-specific gene expression in human skin. J Invest Dermatol 2010 2.50
3 Demonstration of epitope-spreading phenomena in bullous pemphigoid: results of a prospective multicenter study. J Invest Dermatol 2011 2.27
4 Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet 2004 1.99
5 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
6 Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009 1.89
7 The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat 2011 1.65
8 New functions of XPC in the protection of human skin cells from oxidative damage. EMBO J 2006 1.60
9 Mice overexpressing placenta growth factor exhibit increased vascularization and vessel permeability. J Cell Sci 2002 1.56
10 Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. J Invest Dermatol 2011 1.51
11 Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma. Genes Chromosomes Cancer 2008 1.50
12 Distinct vascular endothelial growth factor signals for lymphatic vessel enlargement and sprouting. J Exp Med 2007 1.43
13 Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model. J Invest Dermatol 2009 1.43
14 Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002 1.42
15 Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. J Invest Dermatol 2004 1.42
16 Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 2011 1.36
17 Pemphigus autoantibodies generated through somatic mutations target the desmoglein-3 cis-interface. J Clin Invest 2012 1.25
18 Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol 2006 1.20
19 Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. Acta Derm Venereol 2008 1.16
20 Placenta growth factor in diabetic wound healing: altered expression and therapeutic potential. Am J Pathol 2006 1.10
21 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
22 Increased melanoma growth and metastasis spreading in mice overexpressing placenta growth factor. Am J Pathol 2006 1.07
23 Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet 2010 1.06
24 Vascular endothelial growth factor receptor-1 is deposited in the extracellular matrix by endothelial cells and is a ligand for the alpha 5 beta 1 integrin. J Cell Sci 2003 1.06
25 Diabetes impairs adipose tissue-derived stem cell function and efficiency in promoting wound healing. Wound Repair Regen 2013 1.05
26 Multicenter prospective study of the humoral autoimmune response in bullous pemphigoid. Clin Immunol 2008 1.05
27 Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis 2014 1.05
28 Definitions and outcome measures for bullous pemphigoid: recommendations by an international panel of experts. J Am Acad Dermatol 2011 1.04
29 The placenta growth factor in skin angiogenesis. J Dermatol Sci 2005 1.02
30 Inactivation of p16INK4a (inhibitor of cyclin-dependent kinase 4A) immortalizes primary human keratinocytes by maintaining cells in the stem cell compartment. FASEB J 2006 1.01
31 Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees. Hum Genet 2002 1.01
32 Long-term engraftment of single genetically modified human epidermal holoclones enables safety pre-assessment of cutaneous gene therapy. Mol Ther 2007 1.01
33 Vascular endothelial growth factor-C expression correlates with lymph node localization of human melanoma metastases. Cancer 2003 0.97
34 Bmi-1 reduction plays a key role in physiological and premature aging of primary human keratinocytes. J Invest Dermatol 2009 0.95
35 Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Hum Mutat 2007 0.93
36 Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes. Cancer Res 2005 0.93
37 The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis. Hum Mol Genet 2012 0.92
38 Bullous pemphigoid: from the clinic to the bench. Clin Dermatol 2011 0.91
39 A single cycle of treatment with temozolomide, alone or combined with O(6)-benzylguanine, induces strong chemoresistance in melanoma cell clones in vitro: role of O(6)-methylguanine-DNA methyltransferase and the mismatch repair system. Int J Oncol 2006 0.90
40 Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2002 0.90
41 In vitro antitumour activity of resveratrol in human melanoma cells sensitive or resistant to temozolomide. Melanoma Res 2004 0.88
42 Sirtinol treatment reduces inflammation in human dermal microvascular endothelial cells. PLoS One 2011 0.87
43 Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet 2008 0.85
44 Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon. J Med Genet 2011 0.85
45 Kindlin-1 mutant zebrafish as an in vivo model system to study adhesion mechanisms in the epidermis. J Invest Dermatol 2013 0.84
46 Phacomatosis cesioflammea with unilateral lipohypoplasia. Am J Med Genet A 2008 0.84
47 Inhibition of endothelial cell migration and angiogenesis by a vascular endothelial growth factor receptor-1 derived peptide. Eur J Cancer 2008 0.83
48 Glycated fibroblast growth factor-2 is quickly produced in vitro upon low-millimolar glucose treatment and detected in vivo in diabetic mice. Mol Endocrinol 2006 0.83
49 A proangiogenic peptide derived from vascular endothelial growth factor receptor-1 acts through alpha5beta1 integrin. Blood 2008 0.83
50 Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2008 0.83
51 High-frequency microsatellite instability is associated with defective DNA mismatch repair in human melanoma. J Invest Dermatol 2002 0.83
52 Kindlin-1 regulates integrin dynamics and adhesion turnover. PLoS One 2013 0.82
53 AXIN2 germline mutations are rare in familial melanoma. Genes Chromosomes Cancer 2011 0.82
54 Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa. Biochem Biophys Res Commun 2005 0.81
55 Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. J Hum Genet 2007 0.81
56 Fibroblastic rheumatism: a case without rheumatological symptoms. Acta Derm Venereol 2002 0.80
57 A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet 2012 0.80
58 Autologous in vitro reconstituted epidermis in the treatment of a large nevus depigmentosus. J Am Acad Dermatol 2006 0.80
59 Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. Acta Derm Venereol 2014 0.80
60 Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases. BMC Immunol 2012 0.80
61 The intracellular and extracellular domains of BP180 antigen comprise novel epitopes targeted by pemphigoid gestationis autoantibodies. J Invest Dermatol 2006 0.80
62 Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat 2009 0.80
63 Characterization of the anti-BP180 autoantibody reactivity profile and epitope mapping in bullous pemphigoid patients. J Invest Dermatol 2004 0.79
64 Mutation mechanisms. Dermatol Clin 2010 0.78
65 Biallelic somatic inactivation of the mismatch repair gene MLH1 in a primary skin melanoma. Genes Chromosomes Cancer 2003 0.78
66 Family burden in epidermolysis bullosa is high independent of disease type/subtype. Acta Derm Venereol 2010 0.78
67 SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing. J Invest Dermatol 2006 0.78
68 A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. Acta Derm Venereol 2010 0.78
69 Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes. Exp Dermatol 2015 0.77
70 Sensitivity of immunofluorescence studies vs enzyme-linked immunosorbent assay for diagnosis of bullous pemphigoid. Arch Dermatol 2011 0.77
71 Epidermolysis bullosa care in Italy. Dermatol Clin 2010 0.77
72 COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only. Dermatology 2010 0.77
73 The atypical retinoid E-3-(3'-Adamantan-1-yl-4'-methoxybiphenyl-4-yl)-2-propenoic acid (ST1898) displays comedolytic activity in the rhino mouse model. Eur J Dermatol 2012 0.77
74 Molecular characterization of 11 Italian patients with Darier disease. Eur J Dermatol 2011 0.77
75 Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. J Hum Genet 2003 0.77
76 Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response. Acta Derm Venereol 2016 0.76
77 Endothelial cell adhesion to soluble vascular endothelial growth factor receptor-1 triggers a cell dynamic and angiogenic phenotype. FASEB J 2013 0.76
78 A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa. Biochem Biophys Res Commun 2003 0.76
79 Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome. Genomics 2005 0.76
80 Molecular control of physiological skin angiogenesis. Eur J Dermatol 2002 0.76
81 Impaired keratinocyte proliferative and clonogenic potential in transgenic mice overexpressing 14-3-3σ in the epidermis. J Invest Dermatol 2011 0.76
82 Endemic pemphigus foliaceus: towards understanding autoimmune mechanisms of disease development. J Invest Dermatol 2012 0.75
83 Oral pemphigoid autoantibodies preferentially target BP180 ectodomain. Clin Immunol 2006 0.75
84 Molecular testing in epidermolysis bullosa. Dermatol Clin 2010 0.75
85 Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin. Acta Derm Venereol 2017 0.75
86 Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome. Am J Med Genet A 2010 0.75
87 Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen. Pediatr Dermatol 2015 0.75
88 Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. Acta Derm Venereol 2015 0.75
89 Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma. Eur J Dermatol 2004 0.75
90 Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. Acta Derm Venereol 2016 0.75
91 Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation. Acta Derm Venereol 2013 0.75
92 A case of neonatal linear IgA bullous dermatosis with severe eye involvement. Acta Derm Venereol 2015 0.75
93 The human integrin beta4B and beta4C variants are not expressed in a tissue-specific manner. FEBS Lett 2002 0.75
94 Pemphigoid Gestationis Complicating an Egg Donation Pregnancy. Acta Derm Venereol 2016 0.75
95 Skin equivalents: a tool for the discovery and validation of pharmacodynamic biomarkers. Cancer Invest 2013 0.75
96 Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female. Eur J Dermatol 2007 0.75
97 T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients. Acta Derm Venereol 2014 0.75
98 Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. Pediatr Dermatol 2013 0.75
99 Paraneoplastic Epidermolysis Bullosa Acquisita Associated with Thyroid Carcinoma. Acta Derm Venereol 2016 0.75