Balkan Journal of Medical Genetics, 2016 Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M +5 more
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Molecular genetics of cardiomyopathy: changing times, shifting paradigms [PDF]
, 2003 The original publication is available at http://www.cvja.co.za/Includes bibliographyCongestive heart failure is a major problem in developed and developing countries alike.
Brink, Paul A. +3 more
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Characterizing the role of tafazzin in allergically activated mast cells [PDF]
, 2020 Introduction & Aim: Allergic inflammatory diseases are a constantly growing health concern in westernized societies. Mast cells, the driving force behind many allergic diseases, modulate various metabolic pathways to carry out their various functions ...
Maguire, Aindriu
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Mitochondrial Cardiomyopathies [PDF]
, 2016 Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control.
Ayman W. El-Hattab, Fernando Scaglia
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Barth syndrome: mechanisms and management
The Application of Clinical Genetics, 2019 Josef FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, AustriaObjectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the ...
Finsterer J
doaj
Mutational Analysis of the QRRQ Motif in the Yeast Hig1 Type 2 Protein Rcf1 Reveals a Regulatory Role for the Cytochrome \u3cem\u3ec\u3c/em\u3e Oxidase Complex [PDF]
, 2017 The yeast Rcf1 protein is a member of the conserved family of proteins termed the hypoxia-induced gene (domain) 1 (Hig1 or HIGD1) family. Rcf1 interacts with components of the mitochondrial oxidative phosphorylation system, in particular the cytochrome ...
Garlich, Joshua +3 more
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G-Protein coupled receptor signalling in pluripotent stem cell-derived cardiovascular cells: Implications for disease modelling [PDF]
, 2015 Human pluripotent stem cell derivatives show promise as an in vitro platform to study a range of human cardiovascular diseases. A better understanding of the biology of stem cells and their cardiovascular derivatives will help to understand the strengths
Dolatshad, NF +4 more
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Characterization of Expression of the KCNE Gene Family in Zebrafish, Danio rerio [PDF]
, 2011 The KCNE gene family codes for five transmembrane accessory proteins, minK related peptides or Mirps, involved in the modification of voltage-gated potassium (Kv) channels, K+ selective pores vital in the regulation of membrane potential and ...
Vernlund, Lauren
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The phospholipase iPLA2γ is a major mediator releasing oxidized aliphatic chains from cardiolipin, integrating mitochondrial bioenergetics and signaling [PDF]
, 2017 Gross, Richard W +6 more
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