Aneleigh Schofield

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All affected patients in four families with autosomal dominant familial renal tubular acidosis (dRTA) were heterozygous for mutations in their red cell HCO3-/Cl- exchanger, band 3 (AE1, SLC4A1) genes, and these mutations were not found in any of the nine normal family members studied. The mutation Arg589--> His was present in two families, while Arg589-->(More)
Splenic T cells from Coombs'-positive New Zealand Black (NZB) mice proliferated consistently in vitro in response to the integral red blood cell (RBC) membrane protein Band 3, the antigen previously shown to be the target for the pathogenic RBC autoantibodies. The responding cells predominantly express CD4 and the proliferative response is blocked by(More)
Hereditary ovalocytosis is common in some areas of Melanesia and South East Asia where malaria is endemic. These red cells resist invasion by malarial parasites in vitro and ovalocytic individuals are less parasitized than normal. This has been attributed to the greater rigidity of ovalocytic red cells. It has been suggested that South East Asian(More)
South-East Asian ovalocytosis (SAO) is caused by the heterozygous presence of a variant form of the human erythrocyte anion transporter (band 3; AE1). The expression of band 3 SAO has been studied in Xenopus oocytes. Band 3 SAO is not functional as an anion transporter but is inserted stably into the plasma membrane of oocytes. Band 3 SAO translocation to(More)
Hereditary ovalocytes from a Mauritian subject are extremely rigid, with a shear elastic modulus about three times that of normal cells, and have increased resistance to invasion by the malaria parasite Plasmodium falciparum in vitro. The genetic anomaly resides in band 3; the protein gives rise to chymotryptic fragments with reduced mobility in(More)
A brief summary of the pattern of mental illness in Ireland is given and the work of a psychiatric consultation-liaison service in a general hospital in the southern part of the country is discussed in this context. The referral rates to the service mirror the referral rates in the United Kingdom more than those in the United States. The high rates of(More)
The structure and sequence of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene was determined by analysis of genomic and cDNA clones. The gene extends over 18 kb and consists of 20 exons. The cDNA sequence comprises 4,906 nucleotides [excluding the poly(A) tail]. There is extensive similarity between the human and mouse AE1 gene, although(More)
The clinical and laboratory phenotype of compensated haemolysis in a patient with hereditary ovalocytosis is reported. Clinical presentation was intermittent jaundice and abdominal pain due to pigment gall stones. Haematological analysis revealed an absolute reticulocytosis with an otherwise normal full blood count and biochemical evidence of haemolysis.(More)
The specificity of IGF2 promoter imprinting was examined in embryonal tissues and Wilms tumour. In several fetal tissues of approximately 12 weeks gestation, IGF2 was found to be monoallelically expressed from all IGF2 promoters i.e. P1, P2, P3 and P4. However, in tissues of slightly older gestation age (15-17 weeks) relaxation of imprinting at the P1(More)
Acute confusion is a significant problem among elderly surgical patients, and it can impair the older adult's ability to localize, interpret, or communicate discomfort to care-givers. Discomfort is a common experience for hospitalized older adults, especially those recovering from trauma or surgery. In this study, 36 (78%) of the elderly (> 74 yrs.)(More)