PubRank

David P Kelsell

Author PubWeight™ 46.01‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet 2006 2.81
2 Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med 2011 2.41
3 Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. J Cell Biol 2002 1.83
4 Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res 2005 1.59
5 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
6 Cell-cell connectivity: desmosomes and disease. J Pathol 2011 1.36
7 RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet 2012 1.18
8 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
9 ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol 2006 1.08
10 p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. J Invest Dermatol 2004 1.08
11 Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. J Cell Sci 2007 1.04
12 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
13 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
14 Key functions for gap junctions in skin and hearing. Biochem J 2011 0.95
15 Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. Int J Cancer 2011 0.95
16 A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol 2012 0.94
17 Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet 2013 0.94
18 Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Invest Dermatol 2005 0.94
19 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. J Cell Sci 2005 0.93
20 Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut 2012 0.93
21 Connexins in epidermal homeostasis and skin disease. Biochim Biophys Acta 2011 0.92
22 Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol 2009 0.92
23 Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Proc Natl Acad Sci U S A 2006 0.91
24 A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol 2007 0.90
25 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
26 p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis. Dev Cell 2011 0.89
27 Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet 2002 0.88
28 Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest Ophthalmol Vis Sci 2002 0.87
29 EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum Mol Genet 2009 0.86
30 Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun 2002 0.86
31 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
32 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
33 Rhomboid proteins: a role in keratinocyte proliferation and cancer. Cell Tissue Res 2012 0.85
34 Cellular mechanisms of mutant connexins in skin disease and hearing loss. Cell Commun Adhes 2003 0.83
35 The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. J Cell Sci 2012 0.83
36 Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. Hum Mol Genet 2006 0.80
37 Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell Tissue Res 2012 0.80
38 R-spondins in cutaneous biology: nails and cancer. Cell Cycle 2007 0.79
39 SPINK5: both rare and common skin disease. Trends Mol Med 2002 0.79
40 Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J Invest Dermatol 2012 0.78
41 Double jeopardy: Ras and CDK4 co-expression in skin cancer. Trends Mol Med 2002 0.78
42 Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes. Cell Commun Adhes 2014 0.77
43 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
44 Junctions in human health and inherited disease. Cell Tissue Res 2015 0.75
45 Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res 2010 0.75
46 Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways. Sci Rep 2017 0.75
47 Current insights into protease dynamics in human epithelial disease and barrier function. Cell Tissue Res 2013 0.75