9 results on '"Adriana Carando"'
Search Results
2. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations
- Author
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Paola Quarello, Emanuela Garelli, Adriana Carando, Alfredo Brusco, Roberto Calabrese, Carlo Dufour, Daniela Longoni, Aldo Misuraca, Luciana Vinti, Anna Aspesi, Laura Biondini, Fabrizio Loreni, Irma Dianzani, and Ugo Ramenghi more...
- Subjects
Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Background Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients.Design and Methods In this genotype-phenotype analysis we screened the coding sequence and intron-exon boundaries of RPS14, RPS16, RPS24, RPL5, RPL11, and RPL35A in 92 Italian patients with Diamond-Blackfan anemia who were negative for RPS19 mutations.Results About 20% of the patients screened had mutations in RPL5 or RPL11, and only 1.6% in RPS24. All but three mutations that we report here are new mutations. No mutations were found in RPS14, RPS16, or RPL35A. Remarkably, we observed a higher percentage of somatic malformations in patients with RPL5 and RPL11 mutations. A close association was evident between RPL5 mutations and craniofacial malformations, and between hand malformations and RPL11 mutations.Conclusions Mutations in four ribosomal proteins account for around 50% of all cases of Diamond-Blackfan anemia in Italian patients. Genotype-phenotype data suggest that mutation screening should begin with RPL5 and RPL11 in patients with Diamond-Blackfan anemia with malformations. more...
- Published
- 2010
- Full Text
- View/download PDF
Catalog
3. Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency
- Author
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Paola Quarello, Emanuela Garelli, Alfredo Brusco, Adriana Carando, Patrizia Pappi, Marco Barberis, Valentina Coletti, Maria Francesca Campagnoli, Irma Dianzani, and Ugo Ramenghi
- Subjects
Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2008
- Full Text
- View/download PDF
4. Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
- Author
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Emanuela Garelli, Alessandro Brussino, Elisa Giorgio, Enrico Grosso, Elisa Rubino, Paola Quarello, Federico Marrama, Barbara Pasini, Stefania Bellora, Roberto Massa, Salvatore Gallone, Fabio Sirchia, Alfredo Brusco, and Adriana Carando more...
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0301 basic medicine ,Untranslated region ,Adult ,Male ,brain calcification ,030105 genetics & heredity ,Biology ,Settore MED/26 ,Polymorphism, Single Nucleotide ,Type III ,03 medical and health sciences ,symbols.namesake ,Exon ,Polymorphism (computer science) ,genetic disease ,Genetics ,Humans ,Point Mutation ,Multiplex ,Multiplex ligation-dependent probe amplification ,Polymorphism ,Gene ,Genetics (clinical) ,brain calcification, slc20a2, neurodegeneration, genetic disease ,Sequence Deletion ,Sanger sequencing ,Brain Diseases ,slc20a2 ,Sodium-Phosphate Cotransporter Proteins, Type III ,Point mutation ,neurodegeneration ,Brain ,Calcinosis ,Sodium-Phosphate Cotransporter Proteins ,Exons ,Single Nucleotide ,Pedigree ,030104 developmental biology ,symbols - Abstract
Primary familial brain calcification (PFBC) is a rare disease characterized by brain calcifications that mainly affect the basal ganglia, thalamus, and cerebellum. Among the four autosomal-dominant genes known to be associated with the disease, SLC20A2 pathogenic variants are the most common, accounting for up to 40% of PFBC dominant cases; variants include both point mutations, small insertions/deletions and intragenic deletions. Over the last 7 years, we have collected a group of 50 clinically diagnosed PFBC patients, who were screened for single nucleotide changes and small insertions/deletions in SLC20A2 by Sanger sequencing. We found seven pathogenic/likely pathogenic variants: four were previously described by our group, and three are reported here (c.303delG, c.21delG, and c.1795-1G>A). We developed and validated a synthetic Multiplex Ligation-dependent Probe Amplification (MLPA) assay for SLC20A2 deletions, covering all ten coding exons and the 5' UTR (SLC20A2-MLPA). Using this method, we screened a group of 43 PFBC-patients negative for point mutations and small insertions/deletions, and identified two novel intragenic deletions encompassing exon 6 NC_000008.10:g.(42297172_42302163)_(423022281_42317413)del, and exons 7-11 including the 3'UTR NC_000008.10:g.(?_42275320)_(42297172_42302163)del. Overall, SLC20A2 deletions may be highly underestimated PFBC cases, and we suggest MLPA should be included in the routine molecular test for PFBC diagnosis. more...
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- 2019
5. Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia
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Ugo Ramenghi, Steve R. Ellis, Anna Aspesi, Paola Quarello, Irma Dianzani, Piero Farruggia, Emanuela Garelli, Kim De Keersmaecker, Adriana Carando, Luiselda Foglia, Carlotta Botto, and Cecilia Mancini
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0301 basic medicine ,Electrophoresis ,Ribosomopathy ,RP gene ,Biology ,18S ribosomal RNA ,03 medical and health sciences ,Capillary ,Ribosomal protein ,hemic and lymphatic diseases ,Large ribosomal subunit ,Diamond-Blackfan ,Diagnosis ,Humans ,Eukaryotic Small Ribosomal Subunit ,rRNA ,RRNA processing ,Anemia, Diamond-Blackfan ,Genetics ,Ribosomal ,Eukaryotic Large Ribosomal Subunit ,Medicine (all) ,Electrophoresis, Capillary ,Anemia ,Hematology ,Ribosomal RNA ,Molecular biology ,Diamond Blackfan anaemia ,Mutation ,Case-Control Studies ,Gene Deletion ,RNA, Ribosomal ,030104 developmental biology ,RNA - Abstract
Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool. more...
- Published
- 2016
6. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations
- Author
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Emanuela Garelli, Paola Quarello, Carlo Dufour, Irma Dianzani, Fabrizio Loreni, Roberto Calabrese, Laura Biondini, Aldo Misuraca, Anna Aspesi, Alfredo Brusco, Adriana Carando, Ugo Ramenghi, Daniela Longoni, and Luciana Vinti more...
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Ribosomal Proteins ,Genotype ,Anemia ,Biology ,medicine.disease_cause ,Cell Line ,Cohort Studies ,hemic and lymphatic diseases ,Ribosomal protein S19 ,Diamond-Blackfan ,red cells ,bone marrow failure ,anemia ,medicine ,Humans ,Genetic Testing ,Diamond–Blackfan anemia ,Genetic Association Studies ,Anemia, Diamond-Blackfan ,Mutation ,Settore BIO/11 ,Phenotype ,Italy ,Bone marrow failure ,Hematology ,Aplasia ,medicine.disease ,Transplantation ,Immunology ,Original Article - Abstract
Background Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients.Design and Methods In this genotype-phenotype analysis we screened the coding sequence and intron-exon boundaries of RPS14, RPS16, RPS24, RPL5, RPL11, and RPL35A in 92 Italian patients with Diamond-Blackfan anemia who were negative for RPS19 mutations.Results About 20% of the patients screened had mutations in RPL5 or RPL11, and only 1.6% in RPS24. All but three mutations that we report here are new mutations. No mutations were found in RPS14, RPS16, or RPL35A. Remarkably, we observed a higher percentage of somatic malformations in patients with RPL5 and RPL11 mutations. A close association was evident between RPL5 mutations and craniofacial malformations, and between hand malformations and RPL11 mutations.Conclusions Mutations in four ribosomal proteins account for around 50% of all cases of Diamond-Blackfan anemia in Italian patients. Genotype-phenotype data suggest that mutation screening should begin with RPL5 and RPL11 in patients with Diamond-Blackfan anemia with malformations. more...
- Published
- 2010
7. Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations
- Author
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Barbara Azzimonti, Giuseppe Cappellano, Giorgio Leigheb, Adriana Carando, Elisa Zavattaro, Cinzia Borgogna, Marisa Gariglio, Valentina Dell'Oste, Umberto Dianzani, Michele Mondini, Marco De Andrea, Massimo Ferretti, Santo Landolfo, and Stefania Nicola more...
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Genetics ,virus diseases ,Epidermodysplasia verruciformis ,Cell Biology ,Dermatology ,Biology ,medicine.disease ,Virology ,Biochemistry ,autoimmune lymphoproliferative syndrome ,epidermodysplasia verruciformis ,perforin gene ,Variation (linguistics) ,Perforin ,medicine ,biology.protein ,Identification (biology) ,human papillomavirus ,Gene ,Molecular Biology ,Function (biology) - Published
- 2008
8. Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency
- Author
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Patrizia Pappi, Emanuela Garelli, Paola Quarello, Maria Francesca Campagnoli, Marco Barberis, Irma Dianzani, Ugo Ramenghi, Adriana Carando, Alfredo Brusco, and Valentina Coletti
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Diamond Blackfan syndrome ,RPS19 ,mlpa ,congenital, hereditary, and neonatal diseases and abnormalities ,Anemia ,Normocellular bone marrow ,Chromosome ,Hematology ,Biology ,medicine.disease ,Molecular biology ,body regions ,hemic and lymphatic diseases ,medicine ,Macrocytic anemia ,Multiplex ligation-dependent probe amplification ,Reticulocytopenia ,Diamond–Blackfan anemia ,Congenital pure red cell aplasia - Abstract
Diamond-Blackfan anemia (DBA,#MIM105650) is a rare congenital pure red cell aplasia characterized by nor-mochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. Defects in the RPS19 gene on chromosome 19q13.2 are the main more...
- Published
- 2008
9. Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
- Author
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Mf Campagnoli, Irma Dianzani, Marco Forni, Angela Pucci, Emanuela Garelli, Adriana Carando, C Defilippi, Roberto Lala, Ugo Ramenghi, and G Ingrosso
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Male ,medicine.medical_specialty ,Pathology ,Nonsense mutation ,Short Report ,Gene mutation ,Biology ,Lithiasis ,medicine.disease_cause ,Testicular Diseases ,White People ,Pathology and Forensic Medicine ,Autoimmune Diseases ,Calcinosis ,Molecular genetics ,medicine ,Humans ,testicular microlithiasis ,Child ,tumoral calcinosis ,tumoral calcinosis with hyperphosphataemia ,GALNT3 ,Mutation ,General Medicine ,medicine.disease ,Neoplasm Proteins ,Pedigree ,Italy ,Codon, Nonsense ,Tumoral calcinosis ,N-Acetylgalactosaminyltransferases ,Testicular microlithiasis ,Calcification - Abstract
Background: Familial tumoral calcinosis (FTC) is a rare autosomal recessive disease characterised by the development of multiple calcified masses in periarticular soft tissues; GALNT3 gene mutations have recently been described in an African American and in a Druse Arab family with FTC. Objective: To report the clinical and histological features caused by a new GALNT3 mutation in a white family. Results: Homozygosity for the nonsense mutation Lys463X was found in both affected siblings, who displayed a classic phenotype, the male also having testicular microlithiasis. He is the first subject described with testicular microlithiasis in FTC. Conclusions: The high testicular expression of GALNT3 suggests that the gene alteration could act locally by causing deposition of calcium, and the testis may be an underestimated site of calcification in FTC. Autoimmune diseases are present in several members of the family. Although immune disorders have been described in FTC, autoimmunity does not segregate with the GALNT3 mutation in this family. more...
- Published
- 2006
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