Results 71 to 80 of about 6,899 (166)

The cellular and molecular mechanisms for neutropenia in Barth syndrome [PDF]

European Journal of Haematology, 2011
AbstractBarth syndrome (BTHS), a rare, X‐linked, recessive disease, is characterized by neutropenia and cardiomyopathy. BTHS is caused by loss‐of‐function mutations of the tafazzin (TAZ) gene. We developed a model of BTHS by transfecting human HL60 myeloid progenitor cells with TAZ‐specific shRNAs.
Makaryan, Vahagn, Kulik, Willem, Vaz, Frederic M., Allen, Christopher, Dror, Yigal, Dale, David C., Aprikyan, Andrew A.   +6 more
openaire   +3 more sources

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

Molecular Genetics and Metabolism Reports, 2020
Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism.
W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds   +8 more
doaj   +1 more source

Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?

Clinical and Public Health Guidelines, Volume 3, Issue 3, July 2026.
ABSTRACT Introduction Developing Clinical Practice Guidelines (CPGs) is resource‐intensive, making it essential to prioritise those CPG projects that are most needed. One of the rules pertains to prevalence, which excludes virtually all guideline development for rare diseases. Still, guidance is needed for their management.
Iméze J. Hieltjes, Charlotte M. W. Gaasterland, Marieke Hermsen, Anne Marie van Wermeskerken, Ilse van Herk, Johanna H. van der Lee   +5 more
wiley   +1 more source

Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis.

PLoS ONE, 2015
Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Laurence C Cadalbert, Farah Naz Ghaffar, David Stevenson, Sheila Bryson, Frédéric M Vaz, Eyal Gottlieb, Douglas Strathdee   +6 more
doaj   +1 more source

Generation of urine-derived iPS cell line via a non-integrative method from a Barth syndrome patient with TAZ gene mutation

Stem Cell Research, 2020
Human urine cells from a 6-year-old male X-linked Barth syndrome patient harboring a TAZ frameshift (c.517delG, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi002-A using non-integration CytoTune®-iPS 2.0 Sendai Virus ...
Xiaoling Guo, Long Wang, Kaixin Chen, Shiyang Song, Xingang Wang, Xiaohong Gu, Chao Niu, Maoping Chu   +7 more
doaj   +1 more source

Aberrant TMPRSS6‐Protease Regulation of Disease Mutant HCN4–KCNE1 Channel Complex Depends on the KCNE1‐G38S Polymorphism

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
TMPRSS6‐mediated cleavage of the HCN4–KCNE1 channel complex may modulate disease phenotype in a KCNE1 genotype‐dependent manner. ABSTRACT The sinoatrial node pacemaker channel HCN4 plays a central role in cardiac automaticity, and disease‐associated variants can predispose to atrial arrhythmias.
David Linhoff, Minay Mertens, Ricarda Zimmermann, Stefan Peischard, Christoph Brenker, Thomas Budde, Sven Meuth, Christos Gatsogiannis, Annika Lüttjohann, Liudmila Sosulina, Jürgen Hescheler, Nathalie Strutz‐Seebohm, Guiscard Seebohm   +12 more
wiley   +1 more source

Dynamic simulation of cardiolipin remodeling: greasing the wheels for an interpretative approach to lipidomics[S]

Journal of Lipid Research, 2010
Cardiolipin is a class of mitochondrial specific phospholipid, which is intricately involved in mitochondrial functionality. Differences in cardiolipin species exist in a variety of tissues and diseases.
Michael A. Kiebish, Rob Bell, Kui Yang, Toan Phan, Zhongdan Zhao, William Ames, Thomas N. Seyfried, Richard W. Gross, Jeffrey H. Chuang, Xianlin Han   +9 more
doaj   +1 more source

Evaluating Continuous Glucose Monitoring (CGM) Derived Glucose Variability in Athletes Clinically Diagnosed With Relative Energy Deficiency in Sport (REDs)

European Journal of Sport Science, Volume 26, Issue 6, June 2026.
ABSTRACT Relative Energy Deficiency in Sport (REDs) is a multifactorial condition with significant long‐term health and performance implications. Acute low energy availability (LEA) may suppress glucose levels, particularly nocturnally; however, this has not been investigated in athletes with clinically diagnosed REDs.
Penelope A. Matkin‐Hussey, Dane F. Baker, Gregory R. Cox, Vernon Coffey, Amy‐Lee Bowler, Sarah Beable, Megan Ogilvie, Katherine E. Black   +7 more
wiley   +1 more source

Bacterial Extracellular Vesicles (BEVs) Derived from Chryseobacterium Inhibit Dengue Virus Infection by Disrupting Its Structural Integrity

Journal of Extracellular Vesicles, Volume 15, Issue 6, June 2026.
This study elucidates a novel antiviral mechanism of bacterial BEVs, which are shown to inactivate viruses by triggering membrane fusion, subsequent lysis and causing structural collapse. This direct virucidal action presents a promising broad‐spectrum strategy against diverse enveloped viruses.
Yaqi Gao, Lijian Zhang, Tianci Zhang, Qiufeng Yao, Ruifang Gao, Yue Wang, Yunpeng Zhao, Tingting Zhou, Jikuai Chen, Xing Zhang, Hao Ren, Yongzhe Zhu, Ping Zhao, Zhongtian Qi, Li Luo, Zhaoling Qin   +15 more
wiley   +1 more source

Phospholipid abnormalities in children with Barth syndrome

Journal of the American College of Cardiology, 2003
We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype.Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin ...
Schlame, Michael, Kelley, Richard I., Feigenbaum, Annette, Towbin, Jeffrey A., Heerdt, Paul M., Schieble, Thomas, Wanders, Ronald J. A., DiMauro, Salvatore, Blanck, Thomas J. J.   +8 more
openaire   +3 more sources