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Biomedical subjects

A Renieri

Publications and source records attributed to A Renieri.

At least 73 records · Page 4Linked to original sources
PubMed1994

Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain.

In a large Italian family with adult-onset Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the alpha 5(IV)-chain of glomerular basement membrane collagen, revealed a GGC-->AGC change in exon 38, resulting in substitution of a serine for a glycine in position 1143 of the polypeptide chain, between interruptions 19 and 20 of the triple helical domain. The mutation leads to loss of a restriction site for the enzyme Msp I, and could thus be easily recognized in several female and male relatives. Among relatives of both sexes who carried the same mutation, the clinical phenotype of Alport syndrome was variable as for the onset of renal failure and the presence of associated ear and eye abnormalities.

Adolescent↗
PubMed1994

De-novo COL4A5 gene mutations in Alport's syndrome.

Before the advent of direct molecular gene analysis the diagnosis of Alport syndrome was operationally based on three of the four classical clinical criteria. Recently, mutations have been identified in the COL4A5 gene, which is involved in X-linked Alport syndrome. Here we describe two de-novo mutations in two unrelated children, a male and a female, both with early onset of the nephropathy, but with only one of the diagnostic criteria, i.e. electron-microscopy alterations. Because of the significant estimated proportion of de-novo mutations this diagnosis should be considered in children with early signs of nephropathy, even without a suggestive family history or clinical picture (ocular or audiologic abnormalities). In the future the diagnosis of Alport syndrome will probably be made on the basis of both clinical findings and molecular analysis. Now Alport syndrome is clearly underdiagnosed.

Adolescent↗
PubMed1993

Epstein-Barr virus and gastric cancer: data and unanswered questions.

Sixty-five unselected cases of gastric cancer have been analysed for EBV DNA by polymerase chain reaction, in situ hybridization and immunohistochemistry for CD21 antigen expression. Four cases were found EBV-positive by PCR, while ISH yielded positive results in 3 of these cases, demonstrating EBV in the nuclei of cancerous cells. CD21 antigen was expressed in cancerous cells in all 3 ISH-positive cases. All the EBV-positive cancers of the present series were poorly to moderately differentiated adenocarcinomas with prominent lymphoid infiltration. These results are discussed also on the basis of the literature.

Adenocarcinoma↗
PubMed1993

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.

Adolescent↗
PubMed1992

Alport syndrome caused by a 5' deletion within the COL4A5 gene.

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.

Blotting, Southern↗
PubMed1992

Molecular characterization of the P and I variants of alpha 1-antitrypsin.

Two rare alpha 1-antitrypsin variants, Pi I and Plowell, originally defined at the protein level through isoelectric focusing, were characterized at the DNA level by the polymerase chain reaction and direct sequencing. The I variant was confirmed in one individual and three independent families to result from a CGC(Arg) to TGC(Cys) transition at codon 39, within exon II. In our population, the Pi I variant might be more common than expected. The Plowell allele was shown in one M3P heterozygous individual to be due to a GAT(Asp) to GTT(Val) change at codon 256, in agreement with a previous study based on hybridization with allele-specific oligonucleotides.

Adult↗
PubMed1992

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the alpha 5(IV) chain.

Base Sequence↗