Results 51 to 60 of about 1,622,122 (202)

Structure–Activity Relationships of 1,4‐Benzodiazepines Inhibiting the Voltage‐Gated Potassium Channel KV7.1

Archiv der Pharmazie, Volume 359, Issue 10, October 2026.
KV7.1 antagonists hold potential for the treatment of diarrhea, reflux esophagitis, and hypoinsulinemia. To derive structure–activity relationships, the lead KV7.1 antagonist L768,673 was thoroughly modified in 1‐ and 3‐positions. The 3‐fluoropropyl‐substituted 1,4‐benzodiazepine showed promising KV7.1 inhibitory activity, qualifying it as a potential ...
Florian Roßner, Amy Methaq, Guiscard Seebohm, Bernhard Wünsch   +3 more
wiley   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome

Frontiers in Physiology, 2021
Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). Taz is an important enzyme responsible for synthesizing biologically relevant cardiolipin (for heart and skeletal muscle, cardiolipin
Mario Elkes, Martin Andonovski, Daislyn Vidal, Madison Farago, Ryan Modafferi, Steven M. Claypool, Paul J. LeBlanc   +6 more
doaj   +1 more source

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

Stem Cell Research
Barth syndrome is among the most common mitochondrial diseases presenting with cardiomyopathy. We have generated a human embryonic stem cell (hESC) model of Barth syndrome (TAFAZZINΔ3 C15) in a female background (H9 hESC) using CRISPR/Cas9 gene editing ...
Yau Chung Low, Cameron L. McKnight, David A. Elliott, David R. Thorburn, Ann E. Frazier   +4 more
doaj   +1 more source

A Drosophila model of Barth syndrome [PDF]

Proceedings of the National Academy of Sciences, 2006
Barth syndrome is an X-linked disease presenting with cardiomyopathy and skeletal muscle weakness. It is caused by mutations in tafazzin, a putative acyl transferase that has been associated with altered metabolism of the mitochondrial phospholipid cardiolipin. To investigate the molecular basis of Barth syndrome, we created
Yang, Xu, Morgan, Condell, Heide, Plesken, Irit, Edelman-Novemsky, Jinping, Ma, Mindong, Ren, Michael, Schlame   +6 more
openaire   +2 more sources

Elamipretide Rejuvenates Oocyte Quality and Restores Female Fertility During Reproductive Aging

Aging Cell, Volume 25, Issue 10, October 2026.
We reported a novel peptide therapy showing that elamipretide restores the quality of aged oocytes for fertility by coordinately boosting oocyte nuclear and cytoplasmic maturation via activation of the VEGF signaling pathway. ABSTRACT Aging represents a major contributor to the deterioration of female fertility, with oocyte quality being the central ...
Hao‐Lin Zhang, Yue Wang, Caizhu Wang, Xin Guo, Huanhua Chen, Yu‐Xuan Hou, Xuan Wu, Zi‐Jian Wu, Wen‐Lin Pan, Rui‐Jie Ma, Ping‐Shuang Lu, Jinhui Shu, Shao‐Chen Sun   +12 more
wiley   +1 more source

Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data

Orphanet Journal of Rare Diseases, 2023
Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +6 more
doaj   +1 more source

Sex and Gender Differences in Physical Activity, Sedentary Behavior, and Sleep During Traumatic Brain Injury Recovery: A Narrative Review

European Journal of Sport Science, Volume 26, Issue 9, September 2026.
ABSTRACT Traumatic brain injury (TBI) is a complex neurological condition with enduring consequences that extend well beyond the initial insult. Once regarded primarily as an acute event, TBI is now increasingly recognized as a chronic disorder associated with cognitive, emotional, and physical impairments.
Goretti España‐Irla, Madeleine Perko, Emma M. Tinney, Mark C. Nwakamma, Martina Anto‐Ocrah, Timothy P. Morris   +5 more
wiley   +1 more source

The “GABAergic Brake” on the Spinal Defecation Reflex: A Proposed Neurobiological Model Explaining Clozapine‐ and Benzodiazepine‐Induced Gastrointestinal Hypomotility and Ogilvie's Syndrome

Neuropsychopharmacology Reports, Volume 46, Issue 3, September 2026.
Synergistic “Double Brake” Model on the Spinal Defecation Center in Clozapine‐Induced Constipation. Real‐world data shows BZDRs increase laxative risk in schizophrenia. Mitigating the central GABAergic brake via sedative optimization and maintaining gut microbiota homeostasis prevents fatal Ogilvie's syndrome.
Takahiko Nagamine
wiley   +1 more source

X Chromosome Inactivation in Carriers of Barth Syndrome [PDF]

The American Journal of Human Genetics, 1998
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found.
Orstavik, K.H., Orstavik, R.E., Naumova, A.K., D'Adamo, P., Gedeon, A., Bolhuis, P.A., Barth, P.G., Toniolo, D.   +7 more
openaire   +3 more sources