Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Anna, Marrone"'
Autor:
Vania, Fontani, Arianna, Rinaldi, Chiara, Rinaldi, Laura, Araldi, Alida, Azzarà, Antonio M, Carta, Nicoletta, Casale, Alessandro, Castagna, Maurizio, Del Medico, Maurizio, Di Stasio, Marina, Facchini, Monica, Greco, Savino, LaMarca, Giovanni, Loro, Anna, Marrone, Alessandra, Palattella, Giulio, Pellegata, Daniele, Ruini, Corrado, Schmitt, Franco, Vianini, Margherita, Maioli, Carlo, Ventura, Franco, Caltabiano, Adriano J, Bueno, Amélia, Fugino Matuoka, Edison, Massahiro Nabechima, Fabio A, Bechelli, Fabricio, da Silveira Bossi, Greice C, Nitschke Fontana, Jaques, Finkielsztejn, José Alfredo, Coelho Pereira, Juarez, Nunes Callegaro, Kleiner, Vasconcelos Pinheiro, Lara R, Ferreira Alves, Marcelo, Kodja Daguer, Márcia C, Marins Martins, Mauricio, Bezerra Uliana, Nelson, Knop Zisman, Paulo, Cezar Schütz, Paulo R, Fochesato, Pollyanna, Celso Felipe de Castro, Rosa M, Tanaka Nabechima, Roseli B, Randon, Salvatore, Rinaldi
Publikováno v:
Cureus.
Background Fluctuating asymmetry (FA) is widely defined as the deviation from perfect bilateral symmetry and is considered an epigenetic measure of environmental stress. Rinaldi and Fontani hypothesized that the FA morpho-functional changes originate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9a78a7c3aeecab82a48cf8847313d8
https://doi.org/10.7759/cureus.25768
https://doi.org/10.7759/cureus.25768
Autor:
Anna Marrone, Priya Sokhal, Amanda Walne, Richard Beswick, Michael Kirwan, Sally Killick, Mike Williams, Judith Marsh, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
Haematologica, Vol 92, Iss 8 (2007)
Background and Objectives Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that te
Externí odkaz:
https://doaj.org/article/d3e5e18940114d99b61e1ebf24ac6cf1
Autor:
David T. Bowen, Stefan Schönland, Richard Beswick, Peter Hillmen, Inderjeet Dokal, Anthony McVerry, Tom Vulliamy, Anna Marrone, Michael Kirwan, Andrew K. Stewart, Amanda J. Walne, Annika Maria Whittle, Richard Kelly, Maria H. Gilleece
Publikováno v:
Human Mutation. 30:1567-1573
The primary pathology in many cases of myelodysplasia (MDS) and acute myeloid leukemia (AML) remains unknown. In some cases, two or more affected members have been identified in the same family. To date, mutations in two genes have been directly impl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49bcd4dcb076791b838282ceb613ec8
https://doi.org/10.1002/humu.21115
https://doi.org/10.1002/humu.21115
Autor:
Michael Kirwan, Inderjeet Dokal, Anna Marrone, Amanda J. Walne, Richard Beswick, Hannah Tamary, Tom Vulliamy, Yuka Masunari
Publikováno v:
Blood. 110:4198-4205
Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92148b8d76a3809a373f639b6fd2ca92
https://doi.org/10.1182/blood-2006-12-062851
https://doi.org/10.1182/blood-2006-12-062851
Autor:
Inderjeet Dokal, Anna Marrone
Publikováno v:
Expert Review of Dermatology. 1:463-479
Dyskeratosis congenita is a heterogeneous inherited bone marrow failure syndrome that is classically characterized by abnormal skin pigmentation, nail dystrophy and leukoplakia. X-linked recessive dyskeratosis congenita is due to mutations in DKC1, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68ec7950eae6f553a05ca021ac4dbe29
https://doi.org/10.1586/17469872.1.3.463
https://doi.org/10.1586/17469872.1.3.463
Autor:
Inderjeet Dokal, Philip J. Mason, Tom Vulliamy, Anna Marrone, Amanda J. Walne, Stuart W. Knight
Publikováno v:
Blood. 107:2680-2685
The two genes mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase complex responsible for maintaining the ends of chromosomes in stem cells and in the germ line. In reviewing the mutation p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655715cae263cb9f404fb9806ecb2d41
https://doi.org/10.1182/blood-2005-07-2622
https://doi.org/10.1182/blood-2005-07-2622
Publikováno v:
International Journal of Hematology. 82:184-189
Dyskeratosis congenita (DC) is a rare multisystem bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. The gene that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52bdf8a6a2d3b2cdd73cccf0bcd6c1dd
https://doi.org/10.1532/ijh97.05067
https://doi.org/10.1532/ijh97.05067
Autor:
Amanda J. Walne, Anna Marrone, Aroon Baskaradas, Inderjeet Dokal, Philip J. Mason, Tom Vulliamy
Publikováno v:
Blood Cells, Molecules, and Diseases. 34:257-263
Human telomerase has two core components, the RNA molecule (TERC) that provides the template for telomere repeat elongation and a reverse transcriptase (TERT) that is responsible for the addition of telomere repeats at the ends of each chromosome. Mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b00c26afb2be62d30a8578d793eb31
https://doi.org/10.1016/j.bcmd.2004.12.008
https://doi.org/10.1016/j.bcmd.2004.12.008
Autor:
Anna Marrone, Inderjeet Dokal
Publikováno v:
Expert Reviews in Molecular Medicine. 6:1-23
Dyskeratosis congenita (DC) is a severe, inherited, bone marrow failure syndrome, with associated cutaneous and noncutaneous abnormalities. DC patients also show signs of premature ageing and have an increased occurrence of cancer. DC can originate t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfe2847a32f3bad06aef657da19d383f
https://doi.org/10.1017/s1462399404008671
https://doi.org/10.1017/s1462399404008671
Publikováno v:
The Lancet. 359:2168-2170
Summary The main cause of aplastic anaemia remains elusive. Germline mutations in the gene encoding the RNA component of telomerase ( hTR ) have been seen in the autosomal dominant form of dyskeratosis congenita—an inherited syndrome characterised
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51a9120d6278586aa6a05c5c69dbbccd
https://doi.org/10.1016/s0140-6736(02)09087-6
https://doi.org/10.1016/s0140-6736(02)09087-6