Výsledky vyhledávání - "Clelia Scarano"

Akademický článek

Hb Foggia or α117(GH5)Phe → Ser : a new α2 globin allele affecting the αHb-AHSP interaction

Autor: Giuseppina Lacerra, Clelia Scarano, Gennaro Musollino, Angela Flagiello, Piero Pucci, Clementina Carestia

Publikováno v: Haematologica, Vol 93, Iss 1 (2008)

We report a novel α2-globin gene allele with the mutation cod 117 TTC>TCC or α117(GH5)Phe>Ser detected in three carriers with α-thalassemia phenotype. The mutated mRNA was present in the reticulocytes in the same amount as the normal one, but no c

Externí odkaz: https://doaj.org/article/535ea9c5b5ea4cbeb4123a3553c64775

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Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants

Autor: Maria Grazia Bisconte, Giovanna Cardiero, Sabrina Dembech, Francesca Di Noce, Clelia Scarano, Mercedes Caldora, Giuseppina Lacerra, Gaetana La Porta, Romeo Prezioso, Gennaro Musollino, Rosario Colella Bisogno

Publikováno v: International journal of biochemistry & cell biology 91 (2017): 212–222. doi:10.1016/j.biocel.2017.07.014
info:cnr-pdr/source/autori:Giovanna Cardiero a, Clelia Scarano b, Gennaro Musollino a, Francesca Di Noce a, Romeo Prezioso a, Sabrina Dembech b, Gaetana La Porta c, Mercedes Caldora d, Maria Grazia Bisconte c, Rosario Colella Bisogno e, Giuseppina Lacerra a,?/titolo:Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new alpha-thalassemia mutants/doi:10.1016%2Fj.biocel.2017.07.014/rivista:International journal of biochemistry & cell biology/anno:2017/pagina_da:212/pagina_a:222/intervallo_pagine:212–222/volume:91

alpha-thalassemia is a common disease characterized mainly by deletion mutants. We identified two new ?-thalassemia pointform mutants: alpha1cod22 GGC > GGT Gly > Gly creating a 5' splicing sequence and alpha1cod23 GAG > TAG Glu > stop. We performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79dab02575881647c0fc5708a68878b5
https://pubmed.ncbi.nlm.nih.gov/28743675

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Genotype-phenotype relationship of the delta-thalassemia and Hb A(2) variants: observation of 52 genotypes

Autor: Carlo Gaudiano, Emilia Medulla, Lucia Mastrullo, Gennaro Musollino, Maria Antonietta Romeo, Daniela Caruso, Laura F. Lagona, Francesca Di Noce, Mercedes Caldora, R. Testa, Romeo Prezioso, Carmelo Magnano, Maria G. Friscia, Clelia Scarano, Clementina Carestia, Giuseppina Lacerra

Publikováno v: Hemoglobin 34 (2010): 407–423. doi:10.3109/03630269.2010.511586
info:cnr-pdr/source/autori:Lacerra G.; Scarano C.; Lagona L.F.; Testa R.; Caruso D.G.; Medulla E.; Friscia M.G.; Mastrullo L.; Caldora M.; Prezioso R.; Gaudiano C.; Magnano C.; Romeo M.A.; Musollino G.; Di Noce F. and Carestia C./titolo:Genotype-phenotype relationship of the delta-thalassemia and Hb A(2) variants: observation of 52 genotypes/doi:10.3109%2F03630269.2010.511586/rivista:Hemoglobin/anno:2010/pagina_da:407/pagina_a:423/intervallo_pagine:407–423/volume:34

The increase of Hb A(2) (?2?2) beyond the upper limit [2.0-2.2/3.3-3.4% of the total hemoglobin (Hb)] is an invaluable tool in the hematological screening of ?-thalassemia (?-thal) carriers. Factors decreasing Hb A(2) percentages can hinder correct d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb9285aa99f2246211ed66def95bf9cf
https://publications.cnr.it/doc/27024

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HbA2-Partinico or δ(A2)Pro→Thr, a new genetic variation in the δ-globin gene to the β thal IVS-I-110 G>A, and the heterogeneity of δ-globin alleles in double heterozygotes for β- and δ-globin gene defects

Autor: Laura F. Lagona, Carlo Gaudiano, Clementina Carestia, Giuseppina Lacerra, Daniela Caruso, Maria G. Friscia, Clelia Scarano, Romeo Prezioso, Emilia Medulla, Gennaro Musollino, R. Testa

Publikováno v: Annals of Hematology
Annals of Hematology, Springer Verlag, 2009, 89 (2), pp.127-134. ⟨10.1007/s00277-009-0784-9⟩

The study of the alleles of the delta-globin gene is relevant to the prevention of beta-thalassemia homozygosis; in fact, the increase of the HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and the double heterozygosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1cf72da140933b689e8b668d4ac270
https://hal.archives-ouvertes.fr/hal-00535074/document

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HbA2-Partinico or delta(A2)Pro--Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 GA, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects

Autor: Giuseppina, Lacerra, Clelia, Scarano, Gennaro, Musollino, Rosario, Testa, Romeo, Prezioso, Daniela G, Caruso, Laura F, Lagona, Emilia, Medulla, Maria G, Friscia, Carlo, Gaudiano, Clementina, Carestia

Publikováno v: Annals of hematology. 89(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7d60ad00218db02c18f5e7ff04277070
https://pubmed.ncbi.nlm.nih.gov/19609526

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Hb Foggia or alpha 117(GH5)Phe -Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction

Autor: Giuseppina, Lacerra, Clelia, Scarano, Gennaro, Musollino, Angela, Flagiello, Piero, Pucci, Clementina, Carestia

Publikováno v: Haematologica. 93(1)

We report a novel alpha2-globin gene allele with the mutation cod 117 TTCTCC or alpha 117(GH5)PheSer detected in three carriers with alpha-thalassemia phenotype. The mutated mRNA was present in the reticulocytes in the same amount as the normal one,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::39f975b30acf6837ce8d483527beba1e
https://pubmed.ncbi.nlm.nih.gov/18166800

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Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area

Autor: R. Testa, Clelia Scarano, Laura F. Lagona, Lucia Nota, Francesca Di Noce, Mercedes Caldora, Emilia Medulla, Romeo Prezioso, Daniela Caruso, Lucia Mastrullo, Giuseppina Lacerra, Maria Antonietta Romeo, Gennaro Musollino, Clementina Carestia, Carlo Gaudiano, Maria G. Friscia, Carmelo Magnano, C. Ciaccio

Publikováno v: Gene (Amst.) 410 (2008): 129–138. doi:10.1016/j.gene.2007.12.004
info:cnr-pdr/source/autori:Lacerra G.; Musollino G.; Scarano C.; Lagona L.F.; Caruso D.G.; Testa R.; Prezioso R.; Di Noce F.; Medulla E.; Friscia M.G.; Mastrullo L.; Caldora M.; Nota L.; Gaudiano C.; Magnano C.; Ciaccio C.; Romeo M.A.; Carestia C./titolo:Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area/doi:10.1016%2Fj.gene.2007.12.004/rivista:Gene (Amst.)/anno:2008/pagina_da:129/pagina_a:138/intervallo_pagine:129–138/volume:410

The human delta-globin gene (HBD) is one of the beta-like globin genes expressed in adults. In the Mediterranean countries the carriers of delta-thalassemia defects or Hb A2-variants are >1% and about 40/70 known alleles have been found in families w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e6a47ddcae3fff0945d60ed5b6a640
https://pubmed.ncbi.nlm.nih.gov/18221842

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Iron release in erythrocytes from patients with beta-thalassemia

Autor: Viviana Rossi, Marco Ferrali, Clelia Scarano, Mario Comporti, Sabrina Bambagioni, Cinzia Signorini, Lucia Ciccoli

Publikováno v: Free radical research. 30(5)

Our previous studies have shown that iron is released in a free (desferrioxamine-chelatable) form when erythrocytes undergo oxidative stress (incubation with oxidizing agents or aerobic incubation in buffer for 24-60 h (a model of rapid in vitro agei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc68371560ae0a635b700452c896162
https://pubmed.ncbi.nlm.nih.gov/10342333

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