Results 51 to 60 of about 6,899 (166)

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

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +1 more source

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Orphanet Journal of Rare Diseases, 2021
Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males.
Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin, Guido Pieles   +5 more
doaj   +1 more source

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

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

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach

Journal of Multidisciplinary Healthcare, 2015
Stacey Reynolds Department of Occupational Therapy, Virginia Commonwealth University, Richmond, VA, USA Abstract: This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome.
Reynolds S
doaj  

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

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

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

Negotiating in a Foreign Land: Understanding the Curious Interactions Between Intracellular Mitochondria and Internalized Nanoparticles

Advanced Materials Interfaces, Volume 13, Issue 16, 18 August 2026.
Therapeutic nano‐drug delivery systems interact with cellular mitochondria in a multitude of ways. While the complexity of such interactions disrupts the mitochondrial electron transport chain and increases reactive oxygen species production, thereby contributing to nanoparticle toxicity, they also present unique theranostic opportunities in diseases ...
Sourav Bhattacharjee
wiley   +1 more source