Results 51 to 60 of about 2,315 (156)

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome

Frontiers in Pediatrics, 2023
BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
Nicola Tovaglieri, Silvia Russo, Emanuele Micaglio, Angela Corcelli, Simona Lobasso   +4 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria [PDF]

Journal of Biological Chemistry, 2020
Barth syndrome is a mitochondrial myopathy resulting from mutations in the tafazzin (TAZ) gene encoding a phospholipid transacylase required for cardiolipin remodeling. Cardiolipin is a phospholipid of the inner mitochondrial membrane essential for the function of numerous mitochondrial proteins and processes.
Catherine H. Le, Lindsay G. Benage, Kalyn S. Specht, Lance C. Li Puma, Christopher M. Mulligan, Adam L. Heuberger, Jessica E. Prenni, Steven M. Claypool, Kathryn C. Chatfield, Genevieve C. Sparagna, Adam J. Chicco   +10 more
openaire   +2 more sources

Mitochondrial membrane remodeling in stress adaptation: Lipid control of organelle quality

Protein Science, Volume 35, Issue 8, August 2026.
Abstract Mitochondria respond to proteotoxic stress through the mitochondrial unfolded protein response, traditionally viewed as a transcriptional program that restores proteostasis by inducing chaperones and proteases. Emerging evidence indicates that mitochondrial membrane remodeling constitutes an additional adaptive component of this response ...
Lena J. Reichert, F.‐Nora Vögtle, Carlotta Peselj   +2 more
wiley   +1 more source

YAP‐activated lymph node fibroblasts contribute to extracellular matrix remodeling associated with extranodal extension of oral squamous cell carcinoma

The Journal of Pathology: Clinical Research, Volume 12, Issue 4, July 2026.
Abstract Desmoplasia, characterized by excessive expansion of cancer‐associated fibroblasts (CAFs) and aberrant extracellular matrix (ECM) deposition, is widely present especially in invasive cancers. The extranodal extension (ENE) of nodal metastasis involves the extension of invasive tumor cells through the lymph node capsule into the perinodal ...
Qian Zhang, Shanben Jiang, Ansardin Abliz, Sheng Chen, Qingang Hu, Liang Ding, Yuxin Wang   +6 more
wiley   +1 more source

Genotype–Phenotype Discordance in Cardiomyopathies: Pathophysiology, Clinical Expression, and Therapeutic Considerations

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir, Atif Hussain Sarwar, Rameen Nazar, Sarim Hassan Shahab, Sumera Manan, Hafsa Rafique, Ahsan Talal Khan, Abdalhakim Shubietah, Syed Rafay Hussain Zaidi, Behram Khan   +9 more
wiley   +1 more source

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Kexin Fu, Yonglin Huang, Valerie Bowen, Katherine McCurdy, Reina B. Tan, Colin K. L. Phoon, Lindsay Marjoram, Alex Dahlen   +7 more
wiley   +1 more source

Tafazzin regulates the function of lipopolysaccharide activated B lymphocytes in mice [PDF]

, 2021
Abstract B lymphocytes are responsible for humoral immunity and play a key role in the immune response. Optimal mitochondrial function is required to support B cell activity during activation. We examined how deficiency of tafazzin, a cardiolipin remodeling enzyme required for mitochondrial function, alters the metabolic activity of B ...
Hana M. Zegallai, Ejlal Abu-El-Rub, Laura K. Cole, Jared Field, Edgard M. Mejia, Joseph W. Gordon, Aaron J. Marshall, Grant M. Hatch   +7 more
openaire   +1 more source

Role of Hippo Pathway Effector Tafazzin Protein in Maintaining Stemness of Umbilical Cord-Derived Mesenchymal Stem Cells (UC-MSC)

International Journal of Hematology-Oncology and Stem Cell Research, 2018
Tafazzin (TAZ) protein has been upregulated in various types of human cancers, although the basis for elevation is uncertain, it has been made definite that the effect of mutation in the hippo pathway, particularly when it is switched off, considerably ...
Madhumala Gopinath, Rosa Di Liddo, Francesco Marotta, Ramachandran Murugesan, Antara Banerjee, Sushmitha Sriramulu, Ganesan Jothimani, Vimala Devi Subramaniam, Srinivasan Narasimhan, Swarna Priya K, Xiao-Feng Sun, Surajit Pathak   +11 more
doaj  

Thematic Review Series: Glycerolipids. Cardiolipin synthesis for the assembly of bacterial and mitochondrial membranes*

Journal of Lipid Research, 2008
In this article, the formation of prokaryotic and eukaryotic cardiolipin is reviewed in light of its biological function. I begin with a detailed account of the structure of cardiolipin, its stereochemistry, and the resulting physical properties, and I ...
Michael Schlame
doaj   +1 more source