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Papers by Luisella Saba

Research paper thumbnail of Human EKLF binding and transactivation from wild type and mutant CACCC boxes

Research paper thumbnail of MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES www.mjhid.org ISSN 2035-3006 Review article Prenatal Diagnosis of β-Thalassemias

This is an Open Access article distributed under the terms of the Creative Commons Attribution Li... more This is an Open Access article distributed under the terms of the Creative Commons Attribution License

Research paper thumbnail of Molecular characterization of b̃-thalassemia in Sardinian polulation

Research paper thumbnail of Β-Thalassemia-Like Determinants Associated with Intact Β-Globin Gene

Research paper thumbnail of Cloning, characterization, DNA binding, mapping and mutation analysis of the human erythroid kruppel-like factor (EKLF) gene

Research paper thumbnail of L’exome sequencing identifica una nuova mutazione nel gene dync2h1 in due gemelli affetti da sindrome di Jeune

Research paper thumbnail of Identificazione di due duplicazioni dei geni alfa globinici in pazienti talassemici con gene beta globinico intatto

Research paper thumbnail of Studio degli aplotipi familiari nella diagnosi prenatale non invasiva mediante long-range PCR e tecnologie next generation sequencing

Research paper thumbnail of Multiplex genotyping of CYP2D6 polymorphisms by MALDI-TOF mass spectrometry

Research paper thumbnail of La tecnologiadegli high density array nello studio del profilo d’espressione dell’RNA messaggero nelle linee di ratti sP(Sardinian alcohol-preferring) ed sNP (Sardinian alcohol-no preferring)

Research paper thumbnail of Using exome-sequencing for the diagnosis of rare disorders: two siblings affected by a congenital encephalopathy with microcephalia, polimicrogyria and dystonia

Research paper thumbnail of Applicazione della tecnologia ion torrent per lo sviluppo di un protocollo di diagnosi prenatale non invasiva di beta talassemia su DNA fetale libero estratto dal plasma materno

Research paper thumbnail of High density array technology forthe study of mRNA expression profile in the sp and snp rat lines

Research paper thumbnail of Identificazione di una nuova mutazione in posizione -52 (G->A) del beta direct repeat element del promotore del gene ß globinico

Research paper thumbnail of Determinazione del sesso fetale attraverso lo studio del DNA fetale libero nel plasma materno in una casistica di 69 pazienti

Research paper thumbnail of Homozygous �-thalassaemia resulting in the �-thalassaemia carrier state phenotype

Research paper thumbnail of Peroxidase from Astragalus maritimus: purification and properties

The Italian journal of biochemistry

A peroxidase has been purified to homogeneity from Astragalus maritimus seeds using ammonium sulf... more A peroxidase has been purified to homogeneity from Astragalus maritimus seeds using ammonium sulfate precipitation and chromatography on DEAE-cellulose and hydroxylapatite. The purification obtained was 255 fold. The enzyme preparations were homogenous by the criteria of SDS-PAGE and analytical gel electrofocusing. The protein contained 0.11% of iron that corresponds to a minimum molecular size of 50,700. Determinations of molecular size by SDS-PAGE gave values of 48,000 +/- 1,000 while the one obtained by Sephadex gel filtration was 49,000. The pH optimum of the enzyme was 6.0. The activation energy was estimated to be 6 Kcal/mol. The prosthetic group was shown to be ferriprotoporphyrin IX. The presence of 13% neutral sugars was found. The spectrophotometric analysis showed the presence, in the visible region, of absorption maxima at 403, 490 and 633 nm. The Rz value (A403/A275) was 2.7.

Research paper thumbnail of Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin

Prenatal Diagnosis, 2014

Dipartimento di Sanità Pubblica e Medicina Clinica e Molecolare, Università degli Studi di Caglia... more Dipartimento di Sanità Pubblica e Medicina Clinica e Molecolare, Università degli Studi di Cagliari, Cagliari, Italy Struttura Complessa di Ostetricia e Ginecologia, Ospedale Microcitemico, Cagliari, Italy Servizio di Screening e Consulenza genetica, Ospedale Microcitemico, Cagliari, Italy *Correspondence to: Maria Cristina Rosatelli. E-mail: rosatelli@unica.it These authors equally contributed to the article.

Research paper thumbnail of Multiplex genotyping of CYP3A4 , CYP3A5 , CYP2C9 and CYP2C19 SNPs using MALDI-TOF mass spectrometry

Pharmacogenomics, 2010

Background: Pharmacogenetics is the study of genetic variations that cause alterations in drug le... more Background: Pharmacogenetics is the study of genetic variations that cause alterations in drug level, drug response and adverse drug reactions. SNPs found in CYP450 genes have the greatest genetic influences on interindividual variability in drug bioavailability. The polymorphic nature of these genes may modulate several enzyme levels that affect individual responses to pharmacological treatment. Among them, CYP3A4, CYP3A5, CYP2C9 and CYP2C19 isoforms of CYP450 enzymes are involved in the metabolism of many commonly prescribed drugs. Aims: In this study, we would like to develop a CYP450 genotyping platform that could lead a complete definition of a patient’s metabolic genotype in order to improve the clinical outcome of some drug treatments. Materials & methods: We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) (Sequenom®) to develop a SNP genotyping method. Results: This MALDI-TOF-based multiplexing system allows the simultaneous a...

Research paper thumbnail of Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I

Journal of Medical Genetics, 1997

This study reports the molecular characterisation of the bilirubin UDPglucuronosyl-transferase ge... more This study reports the molecular characterisation of the bilirubin UDPglucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence analysis of both UGT1A exon 1 and common exons 2-5 was performed in all patients, leading to the detection of AF170 and a novel mutation (470insT), both residing in UGT1A exon 1. All but two heterozygotes for the AF170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)7TAA in the promoter region of the UGT1A gene.

Research paper thumbnail of Human EKLF binding and transactivation from wild type and mutant CACCC boxes

Research paper thumbnail of MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES www.mjhid.org ISSN 2035-3006 Review article Prenatal Diagnosis of β-Thalassemias

This is an Open Access article distributed under the terms of the Creative Commons Attribution Li... more This is an Open Access article distributed under the terms of the Creative Commons Attribution License

Research paper thumbnail of Molecular characterization of b̃-thalassemia in Sardinian polulation

Research paper thumbnail of Β-Thalassemia-Like Determinants Associated with Intact Β-Globin Gene

Research paper thumbnail of Cloning, characterization, DNA binding, mapping and mutation analysis of the human erythroid kruppel-like factor (EKLF) gene

Research paper thumbnail of L’exome sequencing identifica una nuova mutazione nel gene dync2h1 in due gemelli affetti da sindrome di Jeune

Research paper thumbnail of Identificazione di due duplicazioni dei geni alfa globinici in pazienti talassemici con gene beta globinico intatto

Research paper thumbnail of Studio degli aplotipi familiari nella diagnosi prenatale non invasiva mediante long-range PCR e tecnologie next generation sequencing

Research paper thumbnail of Multiplex genotyping of CYP2D6 polymorphisms by MALDI-TOF mass spectrometry

Research paper thumbnail of La tecnologiadegli high density array nello studio del profilo d’espressione dell’RNA messaggero nelle linee di ratti sP(Sardinian alcohol-preferring) ed sNP (Sardinian alcohol-no preferring)

Research paper thumbnail of Using exome-sequencing for the diagnosis of rare disorders: two siblings affected by a congenital encephalopathy with microcephalia, polimicrogyria and dystonia

Research paper thumbnail of Applicazione della tecnologia ion torrent per lo sviluppo di un protocollo di diagnosi prenatale non invasiva di beta talassemia su DNA fetale libero estratto dal plasma materno

Research paper thumbnail of High density array technology forthe study of mRNA expression profile in the sp and snp rat lines

Research paper thumbnail of Identificazione di una nuova mutazione in posizione -52 (G->A) del beta direct repeat element del promotore del gene ß globinico

Research paper thumbnail of Determinazione del sesso fetale attraverso lo studio del DNA fetale libero nel plasma materno in una casistica di 69 pazienti

Research paper thumbnail of Homozygous �-thalassaemia resulting in the �-thalassaemia carrier state phenotype

Research paper thumbnail of Peroxidase from Astragalus maritimus: purification and properties

The Italian journal of biochemistry

A peroxidase has been purified to homogeneity from Astragalus maritimus seeds using ammonium sulf... more A peroxidase has been purified to homogeneity from Astragalus maritimus seeds using ammonium sulfate precipitation and chromatography on DEAE-cellulose and hydroxylapatite. The purification obtained was 255 fold. The enzyme preparations were homogenous by the criteria of SDS-PAGE and analytical gel electrofocusing. The protein contained 0.11% of iron that corresponds to a minimum molecular size of 50,700. Determinations of molecular size by SDS-PAGE gave values of 48,000 +/- 1,000 while the one obtained by Sephadex gel filtration was 49,000. The pH optimum of the enzyme was 6.0. The activation energy was estimated to be 6 Kcal/mol. The prosthetic group was shown to be ferriprotoporphyrin IX. The presence of 13% neutral sugars was found. The spectrophotometric analysis showed the presence, in the visible region, of absorption maxima at 403, 490 and 633 nm. The Rz value (A403/A275) was 2.7.

Research paper thumbnail of Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin

Prenatal Diagnosis, 2014

Dipartimento di Sanità Pubblica e Medicina Clinica e Molecolare, Università degli Studi di Caglia... more Dipartimento di Sanità Pubblica e Medicina Clinica e Molecolare, Università degli Studi di Cagliari, Cagliari, Italy Struttura Complessa di Ostetricia e Ginecologia, Ospedale Microcitemico, Cagliari, Italy Servizio di Screening e Consulenza genetica, Ospedale Microcitemico, Cagliari, Italy *Correspondence to: Maria Cristina Rosatelli. E-mail: rosatelli@unica.it These authors equally contributed to the article.

Research paper thumbnail of Multiplex genotyping of CYP3A4 , CYP3A5 , CYP2C9 and CYP2C19 SNPs using MALDI-TOF mass spectrometry

Pharmacogenomics, 2010

Background: Pharmacogenetics is the study of genetic variations that cause alterations in drug le... more Background: Pharmacogenetics is the study of genetic variations that cause alterations in drug level, drug response and adverse drug reactions. SNPs found in CYP450 genes have the greatest genetic influences on interindividual variability in drug bioavailability. The polymorphic nature of these genes may modulate several enzyme levels that affect individual responses to pharmacological treatment. Among them, CYP3A4, CYP3A5, CYP2C9 and CYP2C19 isoforms of CYP450 enzymes are involved in the metabolism of many commonly prescribed drugs. Aims: In this study, we would like to develop a CYP450 genotyping platform that could lead a complete definition of a patient’s metabolic genotype in order to improve the clinical outcome of some drug treatments. Materials & methods: We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) (Sequenom®) to develop a SNP genotyping method. Results: This MALDI-TOF-based multiplexing system allows the simultaneous a...

Research paper thumbnail of Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I

Journal of Medical Genetics, 1997

This study reports the molecular characterisation of the bilirubin UDPglucuronosyl-transferase ge... more This study reports the molecular characterisation of the bilirubin UDPglucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives. Sequence analysis of both UGT1A exon 1 and common exons 2-5 was performed in all patients, leading to the detection of AF170 and a novel mutation (470insT), both residing in UGT1A exon 1. All but two heterozygotes for the AF170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)7TAA in the promoter region of the UGT1A gene.

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