Výsledky vyhledávání - "Veronica Venturi"

Akademický článek

Haemochromatosis patients' research priorities: Towards an improved quality of life

Autor: Lídia Romero‐Cortadellas, Veronica Venturi, Juan Carlos Martín‐Sánchez, Ketil Toska, Dianne Prince, Barbara Butzeck, Graça Porto, Nils Thorm Milman, HI/EFAPH Survey Committee, Mayka Sánchez

Publikováno v: Health Expectations, Vol 26, Iss 6, Pp 2293-2301 (2023)

Abstract Background Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chr

Externí odkaz: https://doaj.org/article/98d0735b2e6d44c6b5c354bb75731214

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Akademický článek

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia

Autor: Cristian Tornador, Edgar Sánchez-Prados, Beatriz Cadenas, Roberta Russo, Veronica Venturi, Immacolata Andolfo, Ines Hernández-Rodriguez, Achille Iolascon, Mayka Sánchez

Publikováno v: Frontiers in Physiology, Vol 10 (2019)

Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct morphological abnormalities of erythroid precursors in the bone marrow. In many cases, a final

Externí odkaz: https://doaj.org/article/9d77f5f3ea1f4f4897eef0ef50b1eb39

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New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

Autor: Sánchez, Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka

Publikováno v: International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 9935

Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::3a6caa2b2829e323398525f38284c906

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Huntington’s disease brain-derived small RNAs recapitulate associated neuropathology in mice

Autor: Anna Guisado-Corcoll, Maria Solaguren-Beascoa, Geòrgia Escaramís, Jordi Creus-Muncunill, Cristina Navarrete, Esther Pérez-Navarro, Veronica Venturi, Eulàlia Martí, Daniela Diaz-Lucena, Franc Llorens, Marta García de Herreros, Mercè Masana, Ana Gámez-Valero, Lorena Pantano

Publikováno v: Acta Neuropathologica. 141:565-584

Progressive motor alterations and selective death of striatal medium spiny neurons (MSNs) are key pathological hallmarks of Huntington's disease (HD), a neurodegenerative condition caused by a CAG trinucleotide repeat expansion in the coding region o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::80f37bb7a82db92a3da88436482eaf39
https://doi.org/10.1007/s00401-021-02272-9

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Characterisation of the biological response of Saccharomyces cerevisiae to the loss of an allele of the eukaryotic initiation factor 4A

Autor: Paul H. Teesdale-Spittle, Veronica Venturi, David R. Maass, Paul H. Atkinson, Richard Little, Peter W. Bircham, Juliana Rodigheri Brito

Publikováno v: Biochemical and Biophysical Research Communications. 496:1082-1087

The translation initiation machinery is emerging as an important target for therapeutic intervention, with potential in the treatment of cancer, viral infections, and muscle wasting. Amongst the targets for pharmacological control of translation init

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16dbaf7458ae1c2a29ea1d899c4ffe8e
https://doi.org/10.1016/j.bbrc.2018.01.137

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Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II

Autor: Veronica Venturi, Paola Bianchi, Juan C. Ramirez, Sara Fañanas-Baquero, José C. Segovia, Mercedes Dessy-Rodriguez, Cristian Tornador, Mayka Sanchez, Oscar Quintana Bustamante, Salvador Payan, Gonzalo Hernández

Publikováno v: Blood. 138:1994-1994

Congenital dyserythropoietic anemias (CDAs) are a group of inherited anemias that affect the development of the erythroid lineage. CDA type II is the most common one: it accounts for around 60% of all cases, and more than 600 cases have been reported

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a332e4572c31340e24034d08a9874d96
https://doi.org/10.1182/blood-2021-152332

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Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component

Autor: Lídia Romero-Cortadellas, Concepción Pérez de Soto, Rosario M. Morales-Camacho, Gonzalo Hernández, Ana Villegas, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez, Xènia Ferrer-Cortès, Mireia Olivella, Veronica Venturi, Marta Morado, F. Ataulfo Gonzalez-Fernandez

Publikováno v: Blood. 138:847-847

An autosomal dominant form of congenital dyserythropoietic anemia type III (CDA III) is caused by a missense mutation in the KIF23 gene whose protein product, mitotic kinesin-like protein (MKLP1), is part of the centralspindlin complex involved in cy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::764d4072965d994b7ebd3f5153750958
https://doi.org/10.1182/blood-2021-150097

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Targeting CAG repeat RNAs reduces Huntington’s disease phenotype independently of huntingtin levels

Autor: Eulàlia Martí, M. Teresa Zomeño-Abellán, Rafael Alcalá-Vida, Laura Rué, Mónica Bañez-Coronel, Esther Pérez-Navarro, Zeus Aranda, Veronica Venturi, Xavier Estivill, Gartze Mentxaka, Birgit Kagerbauer, Albert Giralt, Jordi Creus-Muncunill

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona

Huntington's disease (HD) is a polyglutamine disorder caused by a CAG expansion in the Huntingtin (HTT) gene exon 1. This expansion encodes a mutant protein whose abnormal function is traditionally associated with HD pathogenesis; however, recent evi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7711b520480bf26e7d9f0f14987539
https://doi.org/10.1172/jci83185

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