Results 11 to 20 of about 808 (154)

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module [PDF]

Occupational Therapy International, 2023
Objective. This study examined the preliminary reliability and validity of the PedsQL™ Family Impact Module (PedsQL FIM) in families of children with Barth syndrome (BTHS). Method. A total of 72 parents with children or youth between the ages of 5 and 19
Yoonjeong Lim, Ickpyo Hong, Areum Han
doaj   +3 more sources

CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]

Journal of Cellular and Molecular Medicine, Volume 24, Issue 7, Page 3766-3778, April 2020., 2020
The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I, Jacinto, Filipe, Link, Wolfgang   +2 more
core   +2 more sources

Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: A pilot study

JIMD Reports, 2021
Background Muscle weakness and exercise intolerance contribute to reduced quality of life (QOL) in Barth syndrome (BTHS). Our group previously found that 12 weeks of resistance exercise training (RET) improved muscle strength, however, did not increase ...
Kathryn L. Bohnert, Grace Ditzenberger, Adam J. Bittel, Lisa de lasFuentes, Manuela Corti, Christina A. Pacak, Carolyn Taylor, Barry J. Byrne, Dominic N. Reeds, W. Todd Cade   +9 more
doaj   +2 more sources

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene

Molecular Genetics & Genomic Medicine, 2023
Barth syndrome (BTHS) is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3‐methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafazzin and is ...
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo   +12 more
doaj   +2 more sources

Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts [PDF]

Biology, 2023
Barth Syndrome (BTHS) is a rare X-linked genetic disease caused by a mutation in the TAFAZZIN gene, which codes for the protein tafazzin involved in cardiolipin remodeling.
Hana M. Zegallai, Kangmin Duan, Grant M. Hatch   +2 more
doaj   +2 more sources

Cardiolipin acyl chain composition tailors the conformation of mammalian ATP synthase dimers [PDF]

Communications Chemistry
The interplay between ATP synthase dimers and the four-tailed lipid cardiolipin (CL) shapes mitochondrial cristae structure and function. In the mitochondrial disorder Barth syndrome (BTHS), cristae membranes accumulate a less unsaturated, three-tailed ...
M. Makowski, V. G. Almendro-Vedia, I. López-Montero   +2 more
doaj   +2 more sources

Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome [PDF]

Journal of Molecular and Cellular Cardiology Plus
Barth syndrome (BTHS) is a mitochondrial lipid disorder caused by mutations in TAFAZZIN (TAZ), required for cardiolipin (CL) remodeling. Cardiomyopathy is a major clinical feature, with no curative therapy.
Siting Zhu, Jing Pang, Anh Nguyen, Helen Huynh, Sharon Lee, Yusu Gu, Frederic M. Vaz, Xi Fang   +7 more
doaj   +2 more sources

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation [PDF]

Frontiers in Cardiovascular Medicine
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria.
Mingxuan Che, Mingxuan Che, Fuhai Li, Yaning Jia, Yaning Jia, Qingzheng Liu, Jian Hu, Jidong Zhang, Shiguo Liu, Shiguo Liu   +9 more
doaj   +2 more sources

Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model [PDF]

Orphanet Journal of Rare Diseases
Background Living with children with disabilities has a significant impact on parental health-related quality of life (HRQoL) and family functioning. Barth syndrome (BTHS) is a rare, X-linked disorder that primarily affects males, presenting symptoms ...
Yoonjeong Lim, Ickpyo Hong, Areum Han
doaj   +2 more sources

Pharmacological increases in circulating ketones fail to alleviate the hypertrophic cardiomyopathy present in the Tafazzin knockdown mouse model of Barth syndrome [PDF]

Journal of Pharmacy & Pharmaceutical Sciences
ObjectiveMutations in the tafazzin gene lead to impaired remodeling of cardiolipin, thereby impairing mitochondrial function and causing Barth syndrome (BTHS), a rare X-linked genetic disorder characterized by cardiomyopathy.
Tanin Shafaati, Tanin Shafaati, Tanin Shafaati, Amanda A. Greenwell, Amanda A. Greenwell, Amanda A. Greenwell, Christina T. Saed, Christina T. Saed, Christina T. Saed, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Jordan S. F. Chan, Jordan S. F. Chan, Jordan S. F. Chan, Linyue Dong, Linyue Dong, Magnus J. Stenlund, Magnus J. Stenlund, Magnus J. Stenlund, Sally R. Ferrari, Sally R. Ferrari, Sally R. Ferrari, Ruth Han, Ruth Han, Jennifer Kruger, Farah Eaton, Farah Eaton, Farah Eaton, Keshav Gopal, Keshav Gopal, Keshav Gopal, Sandra T. Davidge, Sandra T. Davidge, Sandra T. Davidge, Gavin Y. Oudit, Gavin Y. Oudit, Gavin Y. Oudit, John R. Ussher, John R. Ussher, John R. Ussher   +40 more
doaj   +2 more sources