Papers by Liliana Rossetti
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Human Mutation
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Hemophilia A is the most common clotting disorder in humans. It affects one in five thousand live... more Hemophilia A is the most common clotting disorder in humans. It affects one in five thousand live-born children. Mutations in the X-chromosome linked F8 gene lead to the deficiency of circulating factor VIII (FVIII). The defect is characterized by severe bleeding. The standard therapy is to replace the deficient factor intravenously. The main adverse event of the therapy is the development of anti-FVIII inhibitor antibodies that impair coagulation and result in increased complications and risk of death. Several risk factors have been described for the development of inhibitor antibodies, among them age, type of FVIII administered, ethnicity, and variant alleles in immune response genes. Epigenetic risks factors have not yet been explored. This work aimed to evaluate the methylation statuses at thirteen CpG sites (5meCpG) in regulatory regions of the IL1B, IL2, IL4, IL6, IL10, TNF, IFNG, CTLA4, CD28, and CST7 immune regulation genes in hemophilia A affected males on replacement thera...
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European Journal of Human Genetics
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Haematologica, 2003
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Prenatal Diagnosis, 2009
Radic, CP, Rossetti, LC, Zuccoli, JR, Abelleyro, MM, Larripa, IB and De Brasi, CD (2009), Inverse... more Radic, CP, Rossetti, LC, Zuccoli, JR, Abelleyro, MM, Larripa, IB and De Brasi, CD (2009), Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples. Prenatal Diagnosis, 29: 1183 ...
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Thrombosis and Haemostasis, 2015
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Prenatal Diagnosis, 2009
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Journal of Thrombosis and Haemostasis, 2008
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Haemophilia, 2011
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Clinical Chemistry, 2005
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Annals of Hematology
Dear Editor, Hemophilia A (HA)(OMIM 306700) is an X-linked inherited bleeding disorder caused by ... more Dear Editor, Hemophilia A (HA)(OMIM 306700) is an X-linked inherited bleeding disorder caused by deleterious mutations in the coagulation factor VIII gene (F8). Even though there is a broad diversity of HA-causative mutations, an uncommon type of rearrangementa ...
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Molecular and Cellular Endocrinology, 2013
The objective of this study was to perform genetic analysis in three brothers of Turkish origin b... more The objective of this study was to perform genetic analysis in three brothers of Turkish origin born from consanguineus parents and affected by congenital hypothyroidism, goiter and low levels of serum TG. The combination of sequencing of DNA, PCR mapping, quantitative real-time PCR, inverse-PCR (I-PCR), multiplex PCR and bioinformatics analysis were used in order to detect TG mutations. We demonstrated that the three affected siblings are homozygous for a DNA inversion of 16,962bp in the TG gene associated with two deleted regions at both sides of the inversion limits. The inversion region includes the first 9bp of exon 48, 1015bp of intron 47, 191bp of exon 47, 1523bp of intron 46, 135bp of exon 46 and the last 14,089bp of intron 45. The proximal deletion corresponds to 27bp of TG intron 45, while the distal deletion spans the last 230bp of TG exon 48 and the first 588bp of intergenic region downstream TG end. The parents were heterozygous carriers of the complex rearrangement. In conclusion, a novel large imperfect DNA inversion within the TG gene was identified by the strategy of I-PCR. This aberration was not detectable by normal sequencing of the exons and exon/intron boundaries. Remarkably, the finding represents the first description of a TG deficiency disease caused by a DNA inversion.
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Haematologica, 2004
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Haematologica, Jul 1, 2004
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Haematologica, Mar 1, 2003
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Thrombosis and Haemostasis, 2015
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Sangre
Identification of the beta-thalassemic alleles of higher incidence in our populations. A total of... more Identification of the beta-thalassemic alleles of higher incidence in our populations. A total of 10 families (40 subjects) were analyzed. All families consisted of one son affected by beta-thalassaemia major (10 patients) and their parents and brothers (30 subjects). Genomic DNA was extracted from peripheral blood; a segment of 536 base pairs of the human beta-globin gene was selectively amplified with oligonucleotide primers by polymerase chain reaction (PCR) and the mutations in nucleotides 1 (IVS 1-1), 6 (IVS 1-6) and 110 (IVS 1-110) of intron 1 and codon 39 of exon 2 were analyzed by hybridization with allele-specific oligonucleotide probes (ASO). The distribution of 20 mutated alleles of the patients was: IVS 1-1: 10%; IVS 1-6: 10%; IVS 1-110: 40%; codon 39: 30%; 2 unidentified alleles (10%) which could not be determined with the probes used in this study; 23 carriers and 1 subject with the two normal alleles, have been detected in the genetically related 30 subject population...
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Haematologica, 2004
In order to determine the molecular heterogeneity of the beta-thalassemia gene and to analyze the... more In order to determine the molecular heterogeneity of the beta-thalassemia gene and to analyze the influence of immigration from the Mediterranean Basin, a total of 254 families (475 subjects) from Argentinean beta-thalassemia patients were investigated using molecular biology techniques. This allowed us to provide a simplified diagnosis and genetic counselling of this disorder in Argentina.
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Haematologica, 2003
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Papers by Liliana Rossetti