Results 71 to 80 of about 7,513 (190)
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 +6 more
openaire +3 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
A Rapid Review of Paediatric Dysphagia Research in 2024
International Journal of Language &Communication Disorders, Volume 61, Issue 3, May/June 2026.ABSTRACT Background Paediatric dysphagia, or feeding and swallowing difficulties in children, is a growing area of clinical and research interest due to its complex aetiology and significant impact on nutrition, development and caregiver well‐being. As new technologies emerge and culturally responsive care gains traction, it is critical to understand ...
Kim Coutts +4 more
wiley +1 more source
Metabolic alterations in a murine model of Barth syndrome [PDF]
, 2018 Barth syndrome (BTHS) is a rare monogenic disease characterized by cardiomyopathy, skeletal myopathy and neutropenia, caused by mutations in the Xq28 locus.
Laprano, Nicola
core +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 +6 more
doaj +1 more source
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 +7 more
doaj +1 more source
Journal of Diabetes, Volume 18, Issue 5, May 2026.This review highlights mitochondrial dysfunction as a central driver of pancreatic β cell failure in diabetes, caused by disrupted mitochondrial quality control (MQC), oxidative stress, and impaired organelle communication. Emerging therapies, such as DRAK2 inhibitors and metabolic reprogramming agents, show promise in restoring β cell function by ...
Ruihan Li +5 more
wiley +1 more source
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 +9 more
doaj +1 more source
Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review
British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos +16 more
wiley +1 more source
Lax–Phillips orbit counting in higher rank
Bulletin of the London Mathematical Society, Volume 58, Issue 5, May 2026.Abstract Given a discrete lattice, Γ
Alex Kontorovich, Christopher Lutsko
wiley +1 more source