Search Results - "Attard, Marlene"
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p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis
Published in Cancer cell (01-04-2003)“…Intact p73 function is shown to be an important determinant of cellular sensitivity to anticancer agents. Inhibition of p73 function by dominant-negative…”
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2
Polymorphism in wild-type p53 modulates response to chemotherapy in vitro and in vivo
Published in Oncogene (22-04-2004)“…A single-nucleotide polymorphism (SNP) in exon 4 results in expression of either arginine (72R) or proline (72P) at codon 72 of p53. We demonstrate that the in…”
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Structure of the Human Sarco/Endoplasmic Reticulum Ca2+-ATPase 3 Gene
Published in The Journal of biological chemistry (29-05-1998)“…Human chromosome 17-specific genomic clones extending over 90 kilobases (kb) of DNA and coding for sarco/endoplasmic reticulum Ca2+-ATPase 3 (SERCA3) were…”
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4
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
Published in Nature genetics (01-04-1998)“…Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal…”
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Severity of phenotype in cystinosis varies with mutations in the CTNS gene : predicted effect on the model of cystinosin
Published in Human molecular genetics (01-12-1999)“…Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and…”
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Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay
Published in American journal of human genetics (01-08-1999)“…Nephropathic cystinosis is an autosomal recessive disorder that is characterized by accumulation of intralysosomal cystine and is caused by a defect in the…”
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