Výsledky vyhledávání - "Gabriella, Misiano"

Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients

Autor: Davide Noto, Rossella Spina, Antonina Giammanco, Carlo M. Barbagallo, Antonina Ganci, Chiara Scrimali, Federica Brucato, Gabriella Misiano, Marcello Ciaccio, Rosalia Caldarella, Angelo B. Cefalù, Maurizio Averna

Publikováno v: Atherosclerosis. 347:63-67

Background and aims: Familial hypercholesterolemia (FH) is the most relevant genetic cause of early cardiovascular disease (CVD). FH is suspected when low density lipoprotein cholesterol (LDL-C) levels exceed the 95th percentile of the population dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc70253a6b04548c31d9af7b0b57a0a
https://doi.org/10.1016/j.atherosclerosis.2022.03.012

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rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography

Autor: G.I. Altieri, Marco Caruso, Oliviero Olivieri, Filippo M. Sarullo, V. Ingrassia, F. Brucato, Nicola Martinelli, Vincenzo Pernice, Rossella Spina, Carlo M. Barbagallo, C. Scrimali, Domenico Girelli, Francesca Fayer, Gabriella Misiano, Angelo B. Cefalù, Maurizio Averna, Antonina Giammanco, Davide Noto, Salvatore Novo

Publikováno v: Nutrition, Metabolism and Cardiovascular Diseases. 31:1542-1547

Background and aims Novel genetic determinants associated with coronary artery disease (CAD) have been discovered by genome wide association studies. Variants encompassing the CELSR2- PSRC1-SORT1 gene cluster have been associated with CAD. This study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4b967aa851c70f93a1d76193b2641ee
https://doi.org/10.1016/j.numecd.2021.01.018

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Akademický článek

Visceral adiposity index (VAI) is predictive of an altered adipokine profile in patients with type 2 diabetes.

Autor: Marco C Amato, Giuseppe Pizzolanti, Vittoria Torregrossa, Gabriella Misiano, Salvatore Milano, Carla Giordano

Publikováno v: PLoS ONE, Vol 9, Iss 3, p e91969 (2014)

AIMS: Although there is still no clear definition of "adipose tissue dysfunction" or ATD, the identification of a clinical marker of altered fat distribution and function may provide the needed tools for early identification of a condition of cardiom

Externí odkaz: https://doaj.org/article/2f5d85d9e2b44812beadc8378a80391f

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The complex alteration in the network of IL-17-type cytokines in patients with hereditary angioedema

Autor: Gabriella Misiano, Mariangela Lo Pizzo, Francesco Arcoleo, Giuseppina Colonna Romano, Salvatore Milano, Enrico Cillari, Vito M. R. Muggeo

Publikováno v: Clinical and Experimental Medicine. 18:355-361

Hereditary angioedema (HAE) is a rare autosomic-dominant disorder characterized by a deficiency of C1 esterase inhibitor which causes episodic swellings of subcutaneous tissues, bowel walls and upper airways that are disabling and potentially life-th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1c076450b1bd88e4d17ee71882787e9
https://doi.org/10.1007/s10238-018-0499-0

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PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study

Autor: Francesca Fayer, Maurizio Averna, Carlo M. Barbagallo, G.I. Altieri, Gabriella Misiano, Vincenza Valenti, C. Scrimali, Davide Noto, Rossella Spina, Angelo B. Cefalù, Antonina Giammanco, V. Ingrassia, F. Brucato

Publikováno v: Atherosclerosis. 292

Background and aims Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to low density lipoprotein receptor (LDLR) through the LDLR epidermal growth factor-like repeat A (EGF-A) domain and induces receptor internalization and degradation. PCS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd84ab6f99cd5d9949d2a310495df48
https://pubmed.ncbi.nlm.nih.gov/31784031

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Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred

Autor: Roberto Monastero, Gabriella Misiano, Maurizio Averna, Davide Noto, V. Ingrassia, Antonina Pipitone, Vincenza Valenti, Angelo B. Cefalù, Rossella Spina, C. Scrimali, Carlo M. Barbagallo, Antonina Giammanco, Maria P. La Spada, Roberta Baschi

Publikováno v: Journal of clinical lipidology. 12(1)

Background Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ec07b0bc9e7f41c5727478fd68ffbd
https://pubmed.ncbi.nlm.nih.gov/29153781

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Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily

Autor: Francesca Fayer, Rossella Spina, Angelo B. Cefalù, Maurizio Averna, G.I. Altieri, Gabriella Misiano, Carlo M. Barbagallo, Davide Noto, V. Ingrassia, Antonina Giammanco, C. Scrimali, A. Ganci, Vincenza Valenti

Aim: Autosomal dominant hypercholesterolemia (ADH) is an autosomal dominant disorder characterized by high serum low density lipoproteincholesterol (LDL-C) levels. The clinical manifestations of ADH might vary among affected subjects and the phenotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7676b928811dec80bb25d3baea8e1f5a
http://hdl.handle.net/10447/285877

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