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J Cowell

Publications and source records attributed to J Cowell.

25 records · Page 2Linked to original sources
PubMed1987

The molecular genetics of retinoblastoma and Wilms' tumor.

Retinoblastoma and Wilms' tumor in children are sometimes associated with small constitutional chromosome deletions on chromosomes 13 and 11, respectively. This finding has highlighted regions of the human genome which are potentially important in the predisposition to the development of cancer. By using techniques in molecular biology, it is possible to isolate DNA sequences from specific chromosomes. Then, by using either a panel of somatic cell hybrids containing different overlapping deletions or in situ hybridization, it is possible to assign these DNA sequences to regions of particular chromosomes. DNA sequences isolated from within the frequently deleted regions will prove useful not only to improve understanding of the basic mechanism underlying cancer predisposition, but also to possibly allow prenatal diagnosis for those at risk.

Eye Neoplasms↗
PubMed1986

Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids.

A series of mouse-human somatic cell hybrid lines (WILF) were derived from a hybrid that was originally thought to have chromosome 19 as its only human chromosome. In situ hybridization has been used to assess the amount of human material present in the different lines. All appear to contain different numbers of human chromosome fragments. A series of X-chromosome-specific DNA sequences hybridized against DNA from the lines revealed that material from the X long arm is present in several cases. Chromosome 19-specific DNA sequences used in a similar way show that fragmentation of this this chromosome has occurred with subsequent segregation of the fragments in different lines. The localization of these markers to various regions of chromosome 19, and their relation to the fragments observed in the WILF lines, is discussed.

Animals↗
PubMed1985

A cytochrome P-450 gene family mapped to human chromosome 19.

We have recently isolated a cloned cDNA coding for a cytochrome P-450 of human liver microsomal membranes, which corresponds to a major phenobarbital-inducible cytochrome P-450 of rat liver. This human cytochrome P-450 is encoded by a member of a multigene family. DNA extracted from a panel of 12 independent human-rodent somatic cell hybrids was analysed by Southern blot hybridization with the cloned cDNA. The results indicate that all components of this cytochrome P-450 gene family are located on chromosome 19. Evidence from hybrids derived from an individual carrying a balanced translocation suggests a regional localization of 19p13.2----qter. Analysis of human metaphase chromosomes by in situ hybridization localizes this cytochrome P-450 gene family further to the long arm of chromosome 19 in the region q13.1----qter. We propose the designation P450PB for this locus.

Animals↗
PubMed1976

Crowding and health.

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Communicable Diseases↗
PubMedDate not supplied

Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues.

Wilms' tumour (nephroblastoma) is an embryonal neoplasm occurring in hereditary and spontaneous forms. Both types show rearrangements of the short arm of chromosome 11. The germ line of children with the rare inherited triad of aniridia, genito-urinary abnormality and mental retardation carry a chromosome 11 that has a deletion in its short arm (band 11p13) and these children are at increased risk of developing Wilms' tumour. Neonates with the Beckwith-Wiedemann syndrome, in which there may be duplication of the 11p13-11p15 region, are similarly predisposed. In the spontaneous form of the tumour a deletion of the 11p14 band in tumour cells, but not in normal cells, has been reported, and the development of homozygosity for recessive mutations in the 11p region is implicated in the aetiology of Wilms' tumour. In view of these chromosomal rearrangements and because Wilms' tumour is histologically indistinguishable from the early stages of kidney development, we have now examined the expression of genes localized to 11p in Wilms' tumour and human embryonic tissue. In 12 sporadic tumours examined, the expression of the gene coding for insulin-like growth factor-II (IGF-II), localized to the 11p15 region, was markedly increased relative to adult tissues, but was comparable to the level of expression in several fetal tissues including kidney, liver, adrenals and striated muscle. This may reflect the stage of tumour differentiation, but could also contribute to the malignant process, as IGF-II is an embryonal mitogen.

Female↗
PubMedDate not supplied

Trust-wide core care plans.

This article discusses the concept and implication of core care plans. The authors also assess the effect of the introduction of core care plans introduction within the Scarborough and North East Yorkshire Healthcare NHS Trust.

Clinical Protocols↗