Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Mariana A. Argenziano"'
Autor:
Mariana B. Angulo, Alexander Bertalovitz, Mariana A. Argenziano, Jiajia Yang, Aarti Patel, Theresa Zesiewicz, Thomas V. McDonald
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded
Externí odkaz:
https://doaj.org/article/f794ec56edff47938221c71b1ce133d7
Autor:
Jiajia Yang, Mariana A. Argenziano, Mariana Burgos Angulo, Alexander Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/9f0a97d6fc0d47bdbf0a2b44f22f75c1
Autor:
Jiajia Yang, Mariana A. Argenziano, Mariana Burgos Angulo, Alexander Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Mutations in the LMNA gene (encoding lamin A/C) are a significant cause of familial arrhythmogenic cardiomyopathy. Although the penetrance is high, there is considerable phenotypic variability in disease onset, rate of progression, arrhythmias, and s
Externí odkaz:
https://doaj.org/article/3d7d5bbed12746729c768f39cd494a6e
Autor:
Jiajia Yang, Mariana Burgos Angulo, Mariana A. Argenziano, Alexander Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102396- (2021)
Mutations in the gene that encodes the nuclear envelope proteins lamin A/C (LMNA) are considered to be a prominent cause of Dilated cardiomyopathy (DCM), a leading cause of heart failure and a prevalent indication for heart transplant. Here we descri
Externí odkaz:
https://doaj.org/article/abe0a35ca9ea47d79d944ad8131a99ab
Autor:
Mariana Burgos Angulo, Jiajia Yang, Mariana A. Argenziano, Alexander C. Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102399- (2021)
Friedreich's Ataxia (FA) is an autosomal recessive disorder with an incidence of 1 in 50,000 in Caucasians. Most cases are caused by a biallelic GAA expansion in the first intron of the Frataxin (FXN) gene. FA is a neurodegenerative disease, but the
Externí odkaz:
https://doaj.org/article/e3d97582025a47539054298a73344460
Autor:
Mariana A. Argenziano, Mariana Burgos Angulo, Maliheh Najari Beidokhti, Jiajia Yang, Alexander C. Bertalovitz, Thomas V. McDonald
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102394- (2021)
Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been linked to the
Externí odkaz:
https://doaj.org/article/53a328455f8f4087bd2d5261e756126e
Autor:
Mariana B. Angulo, Alexander Bertalovitz, Mariana A. Argenziano, Jiajia Yang, Aarti Patel, Theresa Zesiewicz, Thomas V. McDonald
Publikováno v:
Molecular geneticsgenomic medicineREFERENCES.
Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded protein frataxin. FR
Autor:
Mariana A Argenziano, Michael Xavier Doss, Megan Tabler, Agapios Sachinidis, Charles Antzelevitch
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216928 (2019)
BackgroundHeart failure (HF) is a leading cause of mortality and is associated with cardiac remodeling. Vulnerability to atrial fibrillation (AF) has been shown to be greater in the early stages of HF, whereas ventricular tachycardia/fibrillation dev
Externí odkaz:
https://doaj.org/article/d6b19268b4e2413aab003576d8845748
Autor:
Ignacio M Fenoy, Romina Chiurazzi, Vanesa R Sánchez, Mariana A Argenziano, Ariadna Soto, Mariano S Picchio, Valentina Martin, Alejandra Goldman
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43420 (2012)
Allergic asthma is an inflammatory disorder characterized by infiltration of the airway wall with inflammatory cells driven mostly by activation of Th2-lymphocytes, eosinophils and mast cells. There is a link between increased allergy and a reduction
Externí odkaz:
https://doaj.org/article/2f0fe4178fea4b9d968e1c75b45c58f6