Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alexander Bertalovitz"'
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
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102398- (2021)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal ge
Externí odkaz:
https://doaj.org/article/90e90ee693f04c80a41ba3077b93c5f0
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b510791445598bcc2ff34a33d36b3c
https://pubmed.ncbi.nlm.nih.gov/36369844
https://pubmed.ncbi.nlm.nih.gov/36369844