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 ...

Kjent 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 ...

Kjent 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 ...

Kjent 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 ...

Kjent 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 ...

Kjent 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 ...

Kjent 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 ...

Kjent 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 ...

Kjent 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 ...

Kjent 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, ...

Kjent 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 ...

Kjent 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 ...

Kjent 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 ...

Kjent for Sudden Death |  intercalated discs |  ventricular cardiomyopathy |  p53 iaspp |  desmosome components

Nøkkelpersoner for Palmoplantar Keratoderma

Toppkols i verden
Irene * *****
palmoplantar keratoderma type vii collagen keratin expression
David ***** *******
palmoplantar keratoderma harlequin ichthyosis skin disease
Howard * *******
palmoplantar keratoderma esophageal cancer skin disease
Hans ********* *******
palmoplantar keratoderma human pair cohen syndrome
Colin * *****
palmoplantar keratoderma pachyonychia congenita darier disease
W * ***** ******
atopic dermatitis pachyonychia congenita peanut allergy

David Peter Kelsell:Ekspertvirkning

Konsepter somDavid Peter Kelsellhar direkte innflytelse:Palmoplantar keratoderma,  Harlequin ichthyosis,  Skin disease,  Connexin mutations,  Oesophageal cancer,  Human pair.

David Peter Kelsell:Kol Impact

Konsepter relatert til arbeidet til andre forfattere somfor which David Peter Kelsell har innflytelse: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