- Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan AnemiaAnna Aspesi
Department of Health Sciences, University of Eastern Piedmont, Novara, Italy
Gene 545:282-9. 2014..Moreover, our data support a role for p53-independent pathways in the pathophysiology of DBA. ..
- Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancerFederica Avondo
Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases IRCAD, Universita del Piemonte Orientale, Novara, Italy
BMC Genomics 10:442. 2009..DBA lymphocytes show reduced protein synthesis and fibroblasts display abnormal rRNA processing and impaired proliferation...
- Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 geneI Dianzani
Department of Medical Sciences, Universita del Piemonte Orientale, Novara, Italy
J Med Genet 40:e133. 2003
- Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population studyI Dianzani
Laboratorio di Patologia Genetica, Dipartimento di Scienze Mediche, Universita del Piemonte Orientale, Via Solaroli 17, 28100 Novara, Italy
Mutat Res 599:124-34. 2006..This is the first report of an association between polymorphisms in DNA repair genes and asbestos-associated MM. Our data indicate that genetic factors are involved in MM development...
- XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control studyM Betti
Laboratory of Genetic Pathology, Department of Medical Sciences, University of Piemonte Orientale, Novara, Italy
Mutat Res 708:11-20. 2011..02, 95%CI 1.01-4.05; Casale+Turin: OR=2.39, 95%CI 1.29-4.43). The association of MPM with DNA repair genes support the hypothesis that an increased susceptibility to DNA damage may favour asbestos carcinogenicity...
- [Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure]I Dianzani
Dipartimento di Scienze Mediche, Univ Piemonte Orientale, Novara
Pathologica 95:298-9. 2003
- Diamond-Blackfan Anaemia: an overviewI Dianzani
Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy
Paediatr Drugs 2:345-55. 2000..Bone marrow or cord blood transplantation has been performed in some patients. The former approach is burdened with severe complications and high mortality...
- Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseasesG Bona
Interdisciplinary Research Center of Autoimmune Diseases IRCAD and Department of Medical Sciences, A Avogadro University of Eastern Piedmont, Novara, Italy
Clin Exp Immunol 133:430-7. 2003..These data suggest that heterogeneous inherited defects impairing Fas function favour the development of thyroid autoimmunities...
- Decreased function of Fas in patients displaying delayed progression of HIV-induced immune deficiencyF Bottarel
Department of Medical Science, A Avogadro University of Eastern Piedmont, 28100 Novara, Italy
Hematol J 2:220-7. 2001..This study evaluates the possibility that Fas function defects delay progression of HIV-induced immune deficiency...
- AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndromeL Sorasio
Eur J Med Genet 49:520-2. 2006
- Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white familyM F Campagnoli
Paediatric Department, University of Turin, Turin, Italy
J Clin Pathol 59:440-2. 2006....
- Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian populationU Ramenghi
Department of Paediatrics, University of Torino, Italy
Blood Cells Mol Dis 26:417-22. 2000....
- Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneityP Gasparini
Servizio di Genetica Medica, IRCCS Ospedale CSS San Giovanni Rotondo, Italy
Am J Hum Genet 57:781-8. 1995....
- Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutationI Dianzani
Istituto di Clinica Pediatrica, Universita degli Studi di Torino, Italy
J Med Genet 30:228-31. 1993..This lesion, IVS X-546, was detected in five of the 34 PKU alleles examined. Our results underline the versatility of the CCM method for scanning a gene for multiple mutations...
- Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiencyI Dianzani
Istituto di Clinica Pediatrica, Torino, Italy
J Med Genet 30:465-9. 1993..It occurs in a motif which shows similarities with a region of dihydrofolate reductase (DHFR) and is highly conserved within different animal species...
- Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-FP Gasparini
IRCCS Ospedale C S S San Giovanni Rotondo, Foggia, Italy
Hum Mol Genet 2:571-6. 1993..The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci...
- Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlationsI Dianzani
Dipartimento di Scienze Pediatriche e dell Adolescenza, Universita degli Studi di Torino, Italy
Hum Mutat 12:267-73. 1998..This patient's intermediate phenotype is thus due to the mild DHPR mutation Y150C. Correlations between genotypes and phenotypes were also found for the other mutations...
- The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemiaN Draptchinskaia
Department of Genetics and Pathology, Uppsala University, Sweden
Nat Genet 21:169-75. 1999..These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis...
- Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expressionT N Willig
Life Science Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA
Blood 94:4294-306. 1999..The lack of a consistent relationship between the nature of the mutations and the clinical phenotype implies that yet unidentified factors modulate the phenotypic expression of the primary genetic defect in families with RPS19 mutations...
- Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceM P Sperandeo
Department of Pediatrics, Federico II University, Naples
Am J Hum Genet 66:92-9. 2000..The DNA-based tests are now easily accessible for molecular diagnosis, genetic counseling, and prenatal diagnosis of LPI...
- Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutationI Dianzani
Istituto di Clinica Pediatrica, Centro di Immunogenetica e Istocompatibilita CNR, Turin, Italy
Am J Hum Genet 48:631-5. 1991..Our results indicate that CCM analysis of amplified genomic DNA fragments can be successfully used to search for mutations in large genes whose transcripts are not readily available...