Výsledky vyhledávání - "Manuela Giacchetti"

Pro12Ala Polymorphism of the PPARγ2 Locus Modulates the Relationship Between Energy Intake and Body Weight in Type 2 Diabetic Patients

Autor: Rocco Galasso, Emanuela Lapice, Sergio Cocozza, Antonella Monticelli, Imma Castaldo, Olga Vaccaro, Michele Pinelli, Giovanna Donnarumma, Gabriele Riccardi, Manuela Giacchetti, Angela A. Rivellese

Publikováno v: Diabetes care 30 (2007): 1156–1161. doi:10.2337/dc06-1153
info:cnr-pdr/source/autori:Vaccaro O, Lapice E, MONTICELLI A, Giacchetti M, Castaldo I, Galasso R, Pinelli M, Donnarumma G, Rivellese AA, Cocozza S, Riccardi G./titolo:Pro12Ala polymorphism of the PPAR gamma 2 locus modulates the relationship between energy intake and body weight in type2 diabetic patients./doi:10.2337%2Fdc06-1153/rivista:Diabetes care/anno:2007/pagina_da:1156/pagina_a:1161/intervallo_pagine:1156–1161/volume:30

OBJECTIVE—We explore the relationship among BMI, habitual diet, and the Pro12Ala polymorphism in the peroxisome proliferator–activated receptor (PPAR)γ2. RESEARCH DESIGN AND METHODS—The Pro12Ala variant was characterized in 343 unrelated type

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9558585cd7a15e8bf10c0ad7afd1ce
https://doi.org/10.2337/dc06-1153

Zobrazit plný text záznamu

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients

Autor: Fabio Acquaviva, Sergio Cocozza, Antonella Monticelli, Alessandro Filla, Imma Castaldo, Lorenzo Chiariotti, Simona Keller, Michele Pinelli, Vittorio Enrico Avvedimento, Silvana Sacchetti, Manuela Giacchetti

Publikováno v: Journal of medical genetics
45 (2008): 808–812. doi:10.1136/jmg.2008.058594
info:cnr-pdr/source/autori:Castaldo I, Pinelli M, MONTICELLI A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S./titolo:DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients./doi:10.1136%2Fjmg.2008.058594/rivista:Journal of medical genetics (Print)/anno:2008/pagina_da:808/pagina_a:812/intervallo_pagine:808–812/volume:45

The most frequent mutation of Friedreich ataxia (FRDA) is the abnormal expansion of a GAA repeat located within the first intron of FXN gene. It is known that the length of GAA is directly correlated with disease severity. The effect of mutation is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31eb86efe5ed6bb02521b7ffbea3b3c9
http://hdl.handle.net/11588/332833

Zobrazit plný text záznamu

Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression

Autor: Sergio Cocozza, Francesco Saccà, Imma Castaldo, Manuela Giacchetti, Antonella Monticelli, Alessandro Filla, Michele Pinelli, Daniele Marmolino, Fabio Acquaviva

Publikováno v: Cerebellum (Lond., Print) 7 (2008): 360–365. doi:10.1007/s12311-008-0036-x
info:cnr-pdr/source/autori:Acquaviva F, Castaldo I, Filla A, Giacchetti M, Marmolino D, MONTICELLI A, Pinelli M, Saccà F, Cocozza S./titolo:Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression./doi:10.1007%2Fs12311-008-0036-x/rivista:Cerebellum (Lond., Print)/anno:2008/pagina_da:360/pagina_a:365/intervallo_pagine:360–365/volume:7

Friedreich’s ataxia is an autosomal recessive neurodegenerative disease that is due to the loss of function of the frataxin protein. The molecular basis of this disease is still a matter of debate and treatments have so far focused on managing symp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8210653b15ae016473f18db9363e02f6

Zobrazit plný text záznamu

β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus

Autor: Giovanna Donnarumma, Antonella Monticelli, G. Romano, Fabio Acquaviva, Emanuela Lapice, Sergio Cocozza, Gabriele Riccardi, Manuela Giacchetti, Michele Pinelli, Olga Vaccaro

Publikováno v: BMC genetics (Online) 7 (2006). doi:10.1186/1471-2350-7-85
info:cnr-pdr/source/autori:Pinelli M, Giacchetti M, Acquaviva F, Cocozza S, Donnarumma G, Lapice E, Riccardi G, Romano G, Vaccaro O, MONTICELLI A./titolo:Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus./doi:10.1186%2F1471-2350-7-85/rivista:BMC genetics (Online)/anno:2006/pagina_da:/pagina_a:/intervallo_pagine:/volume:7
BMC Medical Genetics
BMC Medical Genetics, Vol 7, Iss 1, p 85 (2006)

Background It is widely accepted that Type 2 Diabetes Mellitus (T2DM) and other complex diseases are the product of complex interplay between genetic susceptibility and environmental causes. To cope with such a complexity, all the statistical and con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::374f16c43e9bd422e9db7fcd1c681c6d
https://doi.org/10.1186/1471-2350-7-85

Zobrazit plný text záznamu

Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers

Autor: M S Lo Casale, I De Biase, Mimmo Turano, Chiara Criscuolo, L Pianese, A. Filla, Antonella Monticelli, Manuela Giacchetti, Sergio Cocozza

Publikováno v: Journal of neurology, neurosurgery and psychiatry 75 (2004): 1061–1063. doi:10.1136/jnnp.2003.028605
info:cnr-pdr/source/autori:Pianese L., Turano M., Lo Casale MS., De Biase I., Giacchetti M., MONTICELLI A., Criscuolo C., Filla A. and Cocozza S./titolo:Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers./doi:10.1136%2Fjnnp.2003.028605/rivista:Journal of neurology, neurosurgery and psychiatry/anno:2004/pagina_da:1061/pagina_a:1063/intervallo_pagine:1061–1063/volume:75

The most common causative mutation of Friedreich ataxia (FRDA) is the unstable hyperexpansion of an intronic GAA triplet repeat that impairs frataxin transcription. Using real time quantitative PCR, we showed that FRDA patients had residual levels of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9b6ff425f0ae2bc58783e08e85e035
https://pubmed.ncbi.nlm.nih.gov/15201375

Zobrazit plný text záznamu

Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype

Autor: Antonella Monticelli, Luigi Pianese, Mimmo Turano, S. Cocozza, A. Filla, Manuela Giacchetti, G. De Michele, I De Biase

Publikováno v: Scopus-Elsevier
eJMG (Lond.) 41 (2004): 293–295. doi:10.1136/jmg.2003.015289
info:cnr-pdr/source/autori:Giacchetti M., MONTICELLI A., De Biase I., Pianese L., Turano M., Filla A., De Michele G. and Cocozza S/titolo:Mitochondrial DNA haplogroups influence the Fredreich ataxia phenotype/doi:10.1136%2Fjmg.2003.015289/rivista:eJMG (Lond.)/anno:2004/pagina_da:293/pagina_a:295/intervallo_pagine:293–295/volume:41

3 Diabetes mellitus or carbohydrate intolerance is frequently described. 1 The age of onset is variable. The disease usually comes at puberty but several cases have become symptomatic after 40 years. 4 The mole- cular defect that occurs in Friedreich

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88c16071399a38ddff9bbbd1cc686b88
https://pubmed.ncbi.nlm.nih.gov/15060107

Zobrazit plný text záznamu

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation

Autor: Luigi Pianese, Manuela Giacchetti, Irene De Biase, Mimmo Turano, Antonella Monticelli, Sergio Cocozza, Massimo Pandolfo

Publikováno v: Human genetics 114 (2004): 458–463. doi:10.1007/s00439-004-1089-7
info:cnr-pdr/source/autori:MONTICELLI A., Giacchetti M., De Biase I., Pianese L., Turano M., Pandolfo M. and Cocozza S./titolo:New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation./doi:10.1007%2Fs00439-004-1089-7/rivista:Human genetics/anno:2004/pagina_da:458/pagina_a:463/intervallo_pagine:458–463/volume:114

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder commonly caused by large expansions of a GAA repeat in the first intron of the frataxin gene, FRDA. The expansion of the triplet repeat is localized within an Alu sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c547867120e5e8b878a3bc7f9dac7683
https://pubmed.ncbi.nlm.nih.gov/14767759

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání