Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy

Autor: Lucrezia Virruso, Maria G. Friscia, R. Testa, Carlo Gaudiano, Caterina Di Girgenti, Rosario Colella Bisogno, Giuseppina Lacerra, Gennaro Musollino, Giovanna Cardiero, Mercedes Caldora, Giuseppe Manco

Publikováno v: Genes, Vol 11, Iss 870, p 870 (2020)
Genes (Basel) 11 (2020): 1–20. doi:10.3390/genes11080870
info:cnr-pdr/source/autori:Cardiero, Giovanna; Musollino, Gennaro; Friscia, Maria Grazia; Testa, Rosario; Virruso, Lucrezia; Di Girgenti, Caterina; Caldora, Mercedes; Bisogno, Rosario Colella; Gaudiano, Carlo; Manco, Giuseppe; Lacerra, Giuseppina/titolo:Effect of mutations on mRNA and globin stability: The cases of Hb Bernalda%2FGroene hart and Hb Southern Italy/doi:10.3390%2Fgenes11080870/rivista:Genes (Basel)/anno:2020/pagina_da:1/pagina_a:20/intervallo_pagine:1–20/volume:11
Genes
Volume 11
Issue 8

We identified two unstable variants in the third exon of &alpha
globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>
T), and Hb Caserta (HBA2:c.79G>
A) in cis to Hb Sun Prairie (HBA2:c.391G>
C), also named Hb Southern Italy.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823831c10887975e5e1c56df1e7e0401
https://doi.org/10.3390/genes11080870

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

α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro

Autor: Emilia Medulla, Gabriele Qualtieri, Angela Flagiello, Carlo Gaudiano, Maria Grazia Bisconte, Antonello Merlino, Romeo Prezioso, Giuseppina Lacerra, Piero Pucci, Gennaro Musollino, Mercedes Caldora, Giovanna Cardiero, Gaetana La Porta, Laura F. Lagona

Publikováno v: PLoS ONE
PLoS ONE, Vol 10, Iss 3, p e0115738 (2015)
PloS one 10 (2015): 1–18. doi:10.1371/journal.pone.0115738
info:cnr-pdr/source/autori:Bisconte Maria Grazia(1), Caldora Mercedes(2), Musollino Gennaro(3), Cardiero Giovanna(3), Flagiello Angela(4), La Porta Gaetana(1), Lagona Laura(5), Prezioso Romeo(3), Qualtieri Gabriele(1), Gaudiano Carlo(6), Medulla Emilia(5), Merlino Antonello(7), Pucci Piero(4), Lacerra Giuseppina(3)/titolo:alpha-Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or alpha1 Cod 108(G15)Thr->Asn and Hb Policoro or alpha2 Cod 124(H7)Ser->Pro./doi:10.1371%2Fjournal.pone.0115738/rivista:PloS one/anno:2015/pagina_da:1/pagina_a:18/intervallo_pagine:1–18/volume:10

We identified two new variants in the third exon of the alpha-globin gene in families from southern Italy: the Hb Rogliano, alpha1 cod108 ACC>AAC or alpha1[alpha108(G15)Thr->Asn] and the Hb Policoro, alpha2 cod124 TCC>CCC or alpha2[alpha124(H7)Ser->P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664e9308cc1c0ed7eeffd7b08cef1a30
https://pubmed.ncbi.nlm.nih.gov/25730315

HLA class II favors clearance of HCV infection and progression of the chronic liver damage

Autor: I. Cascavilla, Angelo Andriulli, Alessandra Mangia, Giovanni Modola, Carlo Gaudiano, Valeria Agostiano, Maurizio Margaglione, Raffaela Gentile, Maria Rosaria Villani, Francesco Stella

Publikováno v: Journal of Hepatology. 30:984-989

Background/Aims: This study was aimed to determine whether host-dependent genetic factors modulate the outcome of HCV infection. Methods: HLA class II DRB and DQB typing was performed in 184 infected patients and 200 healthy volunteers. Among the pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::477ab492a90ac903feb0702c7474fe7c
https://doi.org/10.1016/s0168-8278(99)80250-5

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