Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Francesca Di Noce"'
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Akademický článek
Genotyping for known Mediterranean α-thalassemia point mutations using a multiplex amplification refractory mutation system
Autor: Giuseppina Lacerra, Gennaro Musollino, Francesca Di Noce, Romeo Prezioso, Clementina Carestia
Publikováno v: Haematologica, Vol 92, Iss 2 (2007)
We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine known mutations of the α2-globin gene and of the ARMS assay for the detection of α1 Hb J-Oxford and −α3.7 -AC. The method is reproduci
Externí odkaz: https://doaj.org/article/ef37b5ff294e448aae52227c296f6693
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2
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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3
Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE
Autor: Vincenzo Nigro, Mirella Fiorito, Giuseppina Lacerra, Gennaro Musollino, Clementina Carestia, Maria Esposito, Francesca Di Noce, Carlo Gaudiano
Publikováno v: Human mutation 24 (2004): 338–349. doi:10.1002/humu.20088
info:cnr-pdr/source/autori:Lacerra G.; Fiorito M.; Musollino G.; Di Noce F.; Esposito M.; Nigro V.; Gaudiano C.; Carestia C./titolo:“Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE”/doi:10.1002%2Fhumu.20088/rivista:Human mutation/anno:2004/pagina_da:338/pagina_a:349/intervallo_pagine:338–349/volume:24
The a-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5 0 –3 0 ) showing overall sequence homology 496% and average CG content 460%. a-Thalassemia, the most prevalent worldwide autosomal recessive disorder, is a hereditary anemia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f25d1de6373651a2ec3c04fb62cd2f73
https://doi.org/10.1002/humu.20088
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4
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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5
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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6
Genotyping for known Mediterranean -thalassemia point mutations using a multiplex amplification refractory mutation system
Autor: Gennaro Musollino, Romeo Prezioso, Giuseppina Lacerra, Clementina Carestia, Francesca Di Noce
Publikováno v: Haematologica. 92:254-255
We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine known mutations of the α2-globin gene and of the ARMS assay for the detection of α1 Hb J-Oxford and −α3.7 -AC. The method is reproduci
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d988d91a7fca64c38d6f7d125cd33fb5
https://doi.org/10.3324/haematol.10736
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