• Disease
  • Palmoplantar
  • Palmoplantar Keratoderma
  • David Peter Kelsell

    Prominent publications by David Peter Kelsell

    KOL Index score: 16372

    Thiopurine methyltransferase (TPMT) catalyzes the S-methylation of thiopurine drugs. Individual variation in the toxicity and therapeutic efficacy of these drugs is associated with a common genetic polymorphism that controls levels of TPMT activity and immunoreactive protein in human tissues. Because of the clinical significance of the "pharmacogenetic" regulation of this enzyme, it would be important to clone the gene for TPMT in humans and to study the molecular basis for the genetic ...

    Also Ranks for: Human Gene |  tpmt activity |  thiopurine methyltransferase |  blood samples |  molecular basis
    KOL Index score: 14287

    BRCA1 is a tumour suppressor gene located on chromosome band 17q21. It is estimated that mutations in the BRCA1 gene account for approximately 45% of the breast cancer families and almost all of the breast/ovarian cancer families. We have used single strand conformation polymorphism analysis, direct sequencing, allele specific oligonucleotide hybridisation, and reverse transcription polymerase chain reaction (RT-PCR) to look for mutations in the BRCA1 gene in 49 breast or breast/ovarian ...

    Also Ranks for: Brca1 Gene |  alternative splicing |  cancer families |  breast ovarian |  mutation exon
    KOL Index score: 13983

    Germline mutations in the breast cancer-associated genes BRCA1 and BRCA2 confer a lifetime risk of malignancy. Distinctive morphological features have been attributed to these familial tumours; however, in sporadic breast cancer, the inter-relationship between loss of heterozygosity (LOH) of these loci and tumour morphology remains to be fully elucidated. We studied a series of 120 sporadic breast carcinomas using microsatellite markers to identify LOH of BRCA1, BRCA2, p53 and PTEN. The ...

    Also Ranks for: Loh Brca1 |  sporadic breast cancer |  loss heterozygosity |  situ carcinoma |  nuclear pleomorphism
    KOL Index score: 13030

    BACKGROUND & AIMS: Esophageal squamous cell carcinoma (ESCC) is the predominant form of esophageal cancer in Japan. Smoking and drinking alcohol are environmental risk factors for ESCC, whereas single nucleotide polymorphisms in ADH1B and ALDH2, which increase harmful intermediates produced by drinking alcohol, are genetic risk factors. We conducted a large-scale genomic analysis of ESCCs from patients in Japan to determine the mutational landscape of this cancer.

    METHODS: We performed ...

    Also Ranks for: Esophageal Squamous |  tumor carcinoma |  genomic landscape |  escc japan |  genetic factors
    KOL Index score: 11474

    Basal cell carcinoma is the most common human cancer with increasing incidence reported worldwide. Despite the aberrant signaling role of the Hedgehog pathway, little is known about the genetic mechanisms underlying basal cell carcinomas. Towards a better understanding of global genetic events, we have employed the Affymetrix Mapping 10K single nucleotide polymorphism (SNP) microarray technique for "fingerprinting" genomewide allelic imbalance in 14 basal cell carcinoma-blood pair ...

    Also Ranks for: Basal Cell |  uniparental disomy |  single nucleotide |  heterozygosity loh |  key somatic
    KOL Index score: 11074

    The p16(INK4a) and p14(ARF) tumor suppressor genes (TSGs) are encoded within the CDKN2A locus on chromosome 9p21 and function as cell cycle regulatory proteins in the p53 and RB pathways. Inactivation of these genes by genetic and epigenetic changes has been described in some human cancers, but their importance in cutaneous squamous cell carcinoma (SCC) has not been established. Our detailed examination of 40 cutaneous SCC revealed loss of heterozygosity of 9p21 markers in 32.5% of ...

    Also Ranks for: Squamous Cell |  tumor suppressor |  promoter methylation |  p16ink4a p14arf |  cdkn2a locus
    KOL Index score: 10896

    The growth and metastasis of many cancers is due in part to loss of cell–cell adhesion. E-cadherin, plakoglobin and β-catenin are important in cell adhesion. Our aim was to examine the presence of these molecules in Paget's disease of the vulva and Paget's disease of the breast, and to correlate any differences in their expression with the presence of invasive disease or an underlying carcinoma. Sixty-three archival cases of Paget's disease of the vulva, including eight associated with ...

    Also Ranks for: Pagets Disease |  vulva breast |  paget cells |  carcinoma situ |  cases invasive
    KOL Index score: 10825

    BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss and vascularizing keratitis. KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2).

    OBJECTIVES: To establish whether there is a correlation between genotype and phenotype in KID syndrome.

    METHODS: Clinical examination and molecular analysis of GJB2 were performed in a cohort of 14 patients with KID syndrome ...

    Also Ranks for: Deafness Syndrome |  connexin 26 |  germinal mosaicism |  molecular analysis |  pasp50asn mutation
    KOL Index score: 10788

    Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis1,2,3. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3–q43 (refs 4–6). Here we show, through a combination of mapping critical recombinants, identifying individuals with germline mutations and screening known and predicted transcripts, that this gene encodes fumarate ...

    Also Ranks for: Uterine Fibroids |  papillary carcinoma |  fh predispose |  renal cell |  germline mutations
    KOL Index score: 10365

    The protease ADAM17 (a disintegrin and metalloproteinase 17) catalyzes the shedding of various transmembrane proteins from the surface of cells, including tumor necrosis factor (TNF) and its receptors. Liberation of TNF receptors (TNFRs) from cell surfaces can dampen the cellular response to TNF, a cytokine that is critical in the innate immune response and promotes programmed cell death but can also promote sepsis. Catalytically inactive members of the rhomboid family of proteases, ...

    Also Ranks for: Cytoplasmic Domain |  irhom1 irhom2 |  tumor necrosis factor |  tnf receptors |  adam17 protein
    KOL Index score: 10218

    Tylosis esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. We have previously localized the TOC locus to a small genomic interval within chromosomal region 17q25. Using a targeted capture array and next-generation sequencing, we have now identified missense mutations (c.557T>C [p.Ile186Thr] and c.566C>T [p.Pro189Leu] in RHBDF2, which encodes the inactive rhomboid ...

    Also Ranks for: Esophageal Cancer |  rhbdf2 mutations |  human pair |  palmoplantar keratoderma |  growth factor
    KOL Index score: 10217

    Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families. To investigate mutation origin and mutation-specific phenotypes due to BRCA1, we constructed a haplotype of nine polymorphic markers within or immediately flanking the BRCA1 locus in a set of 61 breast/ovarian cancer families selected for having one of six recurrent BRCA1 mutations. Tests of both mutations and family-specific differences in age at diagnosis were not ...

    Also Ranks for: Brca1 Mutations |  international study |  mutation ovarian |  breast neoplasms |  polymorphic markers
    KOL Index score: 10169

    Desmosomes are anchoring junctions that exist in cells that endure physical stress such as cardiac myocytes. The importance of desmosomes in maintaining the homeostasis of the myocardium is underscored by frequent mutations of desmosome components found in human patients and animal models. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a phenotype caused by mutations in desmosomal components in ∼ 50% of patients, however, the causes in the remaining 50% of patients still ...

    Also Ranks for: Sudden Death |  intercalated discs |  ventricular cardiomyopathy |  p53 iaspp |  desmosome components


    David Peter Kelsell: Influence Statistics

    Sample of concepts for which David Peter Kelsell is among the top experts in the world.
    Concept World rank
    clinical heterogeneity genes #1
    paper quantitative algorithm #1
    exfoliative ichthyosis #1
    harlequin ichthyosis implications #1
    anonychia hyponychia #1
    surprising phenotypes #1
    cellcell connectivity #1
    photo diagnosis #1
    extensive ancestral haplotype #1
    direct indirect disruption #1
    widespread syndromic conditions #1
    missense skin campbell #1
    tissue cohesion alteration #1
    understanding epidermal disease #1
    revealed morphologically #1
    c86scx31 g12dcx31 #1
    campbell egfr #1
    syndrome tylosis #1
    ad17δkc mice #1
    dspia mrna #1
    cystatin deregulation #1
    cx31 dominant #1
    dominantly inherited tylosis #1
    p63 irhom2 #1
    skin disease portuguese #1
    geneticists identification #1
    variant gjb3 #1
    functions cell communication #1
    rs5030700 #1
    mutation connexins #1
    immature epidermal desmosomes #1
    cells r143wcx26 #1
    failure desmoglein #1
    nude upregulation #1
    ions molecular messengers #1
    facilitates gastrointestinal #1
    transmembrane proteins attention #1
    ppk palms #1
    approach great advantage #1
    gjb3 gene mutations #1
    ireland 3179 #1
    transporters codon #1
    keratoderma palmoplantar #1
    ichthyosis female humans #1
    ppk predisposition #1
    role lifethreatening disorders #1
    ectropion eclabion #1
    fixed hyperkeratotic plaques #1
    disease cx26 #1
    tgm1 transcription #1

    Key People For Palmoplantar Keratoderma

    Top KOLs in the world
    Irene M Leigh
    palmoplantar keratoderma type vii collagen keratin expression
    David Peter Kelsell
    palmoplantar keratoderma harlequin ichthyosis skin disease
    Howard P STEVENS
    palmoplantar keratoderma esophageal cancer skin disease
    Hans Christian Hennies
    palmoplantar keratoderma human pair cohen syndrome
    Colin S Munro
    palmoplantar keratoderma pachyonychia congenita darier disease
    W H Irwin McLean
    atopic dermatitis pachyonychia congenita peanut allergy

    David Peter Kelsell:Expert Impact

    Concepts for whichDavid Peter Kelsellhas direct influence:Palmoplantar keratoderma,  Harlequin ichthyosis,  Skin disease,  Connexin mutations,  Oesophageal cancer,  Human pair.

    David Peter Kelsell:KOL impact

    Concepts related to the work of other authors for whichfor which David Peter Kelsell has influence:Breast cancer,  Genetic testing,  Brca1 brca2,  Gap junctions,  Hearing loss,  Cell carcinoma,  Hereditary leiomyomatosis.



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    Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT UK | Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary U