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pro vyhledávání: '"R, Congiu"'
Akademický článek
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Akademický článek
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Autor:
Milena Cau, Mark Westerman, Maria Antonietta Melis, Mario Cazzola, Gabriella Sole, Susanna Barella, R. Congiu, Renzo Galanello, Antonio Cao
Publikováno v:
Haematologica. 93:1473-1479
Background Hepcidin plays a key role in body iron metabolism by preventing the release of iron from macrophages and intestinal cells. Defective hepcidin synthesis causes iron loading, while overproduction results in defective reticuloendothelial iron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8280e71b926c2b48817e097fa8c87ba0
https://doi.org/10.3324/haematol.13342
https://doi.org/10.3324/haematol.13342
Autor:
Cristiana Meloni, Antonio Cao, Maria Antonietta Melis, Francesco Emma, Maria Addis, S. Santaniello, Roberto Ciccone, R. Congiu, Milena Cau, Orsetta Zuffardi
Publikováno v:
European Journal of Medical Genetics. 50:79-84
The oculocerebrorenal syndrome of Lowe (OCRL) (MIM:309000) is an X-linked multisystemic disorder affecting the eyes, nervous system and kidneys due to mutations in OCRL1 gene. The gene contains 24 exons, and encodes a 105 kDa phosphatydylinositol 4,5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cb6443248254d22d4473bc8f6ce4e8
https://doi.org/10.1016/j.ejmg.2006.10.003
https://doi.org/10.1016/j.ejmg.2006.10.003
Autor:
Orsetta Zuffardi, Roberto Ciccone, S. Santaniello, Maria Antonietta Melis, Gabriella Sole, Cristiana Meloni, R. Congiu, Mario Loi, Francesco Emma, Antonio Cao, Maria Addis, Milena Cau
Publikováno v:
Journal of Human Genetics. 51:1030-1036
In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c6c374a6276f9b6e21160699e51267
https://doi.org/10.1007/s10038-006-0049-6
https://doi.org/10.1007/s10038-006-0049-6
Akademický článek
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Autor:
R. Congiu, Milena Cau, Gérald Le Gac, Maria Antonietta Melis, Isabelle Gourlaouen, Claude Férec
Publikováno v:
Haematologica. 95:685-687
We recently characterized an Alu-mediated recombination causing the loss of the complete HFE gene sequence. Here, we describe the case of a novel homozygous patient. We further show that HFE deletion results from a founder effect and that it represen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9f6aefc6de9c2354d82414912a5cde9
https://doi.org/10.3324/haematol.2009.016816
https://doi.org/10.3324/haematol.2009.016816
Publikováno v:
Genetic Testing. 6:327-329
Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron metabolism among Caucasians, and it is associated with C282Y mutation of the HFE gene in populations of Celtic origins. A second mutation, H63D, shows a v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::979138df96d27239fb0ad2c59333455d
https://doi.org/10.1089/10906570260471886
https://doi.org/10.1089/10906570260471886
Autor:
Giuseppe Realdi, Francesco Muntoni, Antonello Ganau, Milena Cau, Maria Giovanna Marrosu, R. Congiu, Giuseppina Arvedi, Carlo Cianchetti, Antonio Cao, Anna Mateddu, Maria Antonietta Melis
Publikováno v:
New England Journal of Medicine. 329:921-925
Several forms of hereditary dilated cardiomyopathy have been identified; with the exception of those resulting from mutations of mitochondrial DNA,1,2 no pathological finding can be used to differentiate the conditions, so their distinction depends o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70d7293b3a523d460f1b24108f60000a
https://doi.org/10.1056/nejm199309233291304
https://doi.org/10.1056/nejm199309233291304
Publikováno v:
Expert review of hematology. 3(2)
The discovery of the peptide hormone hepcidin in 2001 has shed light on the control of iron metabolism. Studies in animal models over the past few years have demonstrated its key role in regulating iron homeostasis. It was found that hepcidin deficie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07dad80cd6553fe13921cfc47db63c5d
https://pubmed.ncbi.nlm.nih.gov/21083463
https://pubmed.ncbi.nlm.nih.gov/21083463