Results 81 to 90 of about 1,210,543 (141)

Advances in cardiac tissue engineering and heart‐on‐a‐chip

Journal of Biomedical Materials Research Part A, Volume 112, Issue 4, Page 492-511, April 2024.
Abstract Recent advances in both cardiac tissue engineering and hearts‐on‐a‐chip are grounded in new biomaterial development as well as the employment of innovative fabrication techniques that enable precise control of the mechanical, electrical, and structural properties of the cardiac tissues being modelled.
Jennifer Kieda, Amid Shakeri, Shira Landau, Erika Yan Wang, Yimu Zhao, Benjamin Fook Lai, Sargol Okhovatian, Ying Wang, Richard Jiang, Milica Radisic   +9 more
wiley   +1 more source

Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2015
Mutations in the tafazzin ( TAZ ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial ...
Minal Borkar PhD, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP   +6 more
doaj   +1 more source

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

, 2015
This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards were used to identify articles published ...
Reynolds, Stacey E., Reynolds S
core  

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional impairments and 3-methylglutaconic aciduria that maps to Xq28.
Valianpour, Fredoen, Vaz, Frédéric M., Wanders, Ronald J. A., Barth, Peter G., Lam, Jan, Duran, Marinus, Bowen, Valerie M.   +6 more
core   +1 more source

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

, 2010
OBJECTIVE: Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)
Pennock, M., Gonzalez, I. L., M. Williams, Hastings, R, Pennock, M, Hastings, R., Quarrell, O. W., W. Kulik, Cresswell, J. L., Newbury-Ecob, R. A., Brennan, P, Kulik, W., I. L. Gonzalez, M. Pennock, B. Tsai-Goodman, S. F. Smithson, J. L. Cresswell, Newbury-Ecob, RA, Wanders, R., C. G. Steward, Smithson, S, Steward, C. G., Kulik, W, P. Brennan, Steward, CG, Tsai-Goodman, B, R. Hastings, Williams, M., R. A. Newbury-Ecob, Wanders, R, Quarrell, OW, Tsai-Goodman, B., O. W. Quarrell, Brennan, P., Cresswell, JL, Williams, M, Gonzalez, IL, R. Wanders, Smithson, S. F.   +38 more
core   +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

Temporal evolution of the heart failure phenotype in Barth syndrome and treatment with elamipretide

, 2023
Barth syndrome (BTHS) is a rare genetic disorder caused by pathogenic variants in TAFAZZIN leading to reduced remodeled cardiolipin (CL), a phospholipid essential to mitochondrial function and structure. Cardiomyopathy presents in most patients with BTHS,
Vernon, Hilary J, Sabbah, Hani N, Taylor, Carolyn   +2 more
core   +1 more source

Barth syndrome (BTHS) – report case [PDF]

Child Neurology, 2015
Joanna Pelc, Elżbieta Czyżyk, Szymon Figurski   +2 more
openaire   +1 more source

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

Orphanet Journal of Rare Diseases, 2019
Background Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles,
Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers, Alan L. Shields   +7 more
doaj   +1 more source

#01-#06 Fredrik Barth

, 2021
This flyer series (1 HEX) is a précis from a tutorial process with Prof. Fredrik Barth. It also develops a view of the main concerns and arguments in the resulting thesis (Theodor Barth) available on KHiODA (and is available for readers who wish to go ...
Barth, Theodor
core