δβ-Thalassemia and α-Triplication: Is Genetic Retesting Worthwhile in Case of Non-Coherent Phenotype?

Autor: Giubbilei C; Hematology Unit, Careggi University Hospital, Florence, Italy., D'Angelo S; Hematology Unit, Careggi University Hospital, Florence, Italy., Fotzi I; Pediatric Hematology/Oncology Department, Meyer Children's University Hospital, Florence, Italy., Mogni M; Human Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genova, Italy., Guglielmelli P; Hematology Unit, Careggi University Hospital, Florence, Italy.; Hematology Unit, Center for Research and Innovation in Myeloproliferative Neoplasms, Careggi University Hospital, University of Florence, Florence, Italy., Vannucchi AM; Hematology Unit, Careggi University Hospital, Florence, Italy.; Hematology Unit, Center for Research and Innovation in Myeloproliferative Neoplasms, Careggi University Hospital, University of Florence, Florence, Italy., Carrai V; Hematology Unit, Careggi University Hospital, Florence, Italy.

Publikováno v: Hemoglobin [Hemoglobin] 2024 Oct 14, pp. 1-4. Date of Electronic Publication: 2024 Oct 14.

Coinheritance of PIEZO1 variants and multi-locus red blood cell defects account for the symptomatic phenotype in beta-thalassemia carriers.

Autor: Pinto VM; Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Ente Ospedaliero Ospedali Galliera, Genoa, Italy., Russo R; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.; CEINGE Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Quintino S; Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Ente Ospedaliero Ospedali Galliera, Genoa, Italy., Rosato BE; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.; CEINGE Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Marra R; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.; CEINGE Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Del Giudice F; CEINGE Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Mogni M; Laboratorio di Genetica Umana, Istituto Giannina Gaslini, Genoa, Italy., Maffei M; Laboratorio di Genetica Umana, Istituto Giannina Gaslini, Genoa, Italy., Iolascon A; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.; CEINGE Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Forni GL; Centro della Microcitemia, delle Anemie Congenite e dei Disordini del Metabolismo del Ferro, Ente Ospedaliero Ospedali Galliera, Genoa, Italy., Andolfo I; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.; CEINGE Biotecnologie Avanzate, Franco Salvatore, Naples, Italy.

Publikováno v: American journal of hematology [Am J Hematol] 2023 Jun; Vol. 98 (6), pp. E130-E133. Date of Electronic Publication: 2023 Mar 17.

Case Report: Clinical and Hematological Characteristics of ε γδβ Thalassemia in an Italian Patient.

Autor: Fotzi I; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Pegoraro F; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy.; Department of Health Science, University of Florence, Florence, Italy., Chiocca E; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Casini T; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Mogni M; Human Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Giannina Gaslini, Genoa, Italy., Veltroni M; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy., Favre C; Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2022 Mar 17; Vol. 10, pp. 839775. Date of Electronic Publication: 2022 Mar 17 (Print Publication: 2022).

Investigations into an archaeal RNA polymerase: structure to function analysis

Autor: Mogni, M

The archaeal RNA polymerase (RNAP) is similar to the eukaryotic RNAP-II in terms of subunit composition and overall protein structure. Despite its similarity, a new archaeal-specific Rpo13 subunit has been identified. Rpo13 occupies a position in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::302cb76e909db6703c1e5883e274ada1
https://ora.ox.ac.uk/objects/uuid:7354996b-5e16-4141-8360-46ab4704c13e

Hemoglobin Yamagata [β132(H10)Lys→Asn; ( HBB : c.399A>T)]: a mosaic to be put together.

Autor: Iacomelli I; Diabetes and Metabolism Unit, Valdarno Hospital S. Maria alla Gruccia, USL Toscana Sud Est, Montevarchi, AR, Italy., Barberio G; Laboratory Medicine Unit, Ca' Foncello Hospital, AUSLL 2 Marca Trevigiana, Treviso, Italy., Pucci P; Proteomic Laboratory, CEINGE Biotecnologie Avanzate, Federico II University, Naples, Italy., Monaco V; Proteomic Laboratory, CEINGE Biotecnologie Avanzate, Federico II University, Naples, Italy., Maffei M; Human Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genova, Italy., Mogni M; Human Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genova, Italy., Curcio C; Genetics Laboratory, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Maoggi S; Sebia Italia srl, Bagno a Ripoli, FI, Italy., Giulietti C; Internal Medicine Unit, Valtiberina Hospital, USL Toscana Sud Est, Sansepolcro, AR, Italy., Harteveld CL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ivaldi G; Human Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Giannina Gaslini, Genova, Italy.

Publikováno v: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2021 Apr 23; Vol. 59 (10), pp. 1670-1679. Date of Electronic Publication: 2021 Apr 23 (Print Publication: 2021).