Results 91 to 100 of about 669 (138)

New targets for monitoring and therapy in Barth syndrome

, 2016
Barth syndrome (BTHS), an X-linked disorder caused by defects in TAZ, is the only known single-gene disorder of cardiolipin remodeling. We hypothesized that through analysis of affected individuals, we would gain a better understanding of the range of ...
Dimitrios Avramopoulos, Vaz, Frédéric M., Brittany DeCroes, Kara Kristaponis, W. Reid Thompson, Vernon, Hilary J., Avramopoulos, Dimitrios, Frédéric M. Vaz, Hilary J. Vernon, Jessica Rubens, Rubens, Jessica, Kristaponis, Kara, McClellan, Rebecca, DeCroes, Brittany, Thompson, W. Reid, Rebecca McClellan   +15 more
core   +1 more source

Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To analyze the clinical and genetic characteristics of Chinese pediatric patients with Barth syndrome (BTHS) and provide data to support the prevention and treatment of BTHS.Methods·Eighteen pediatric patients diagnosed with BTHS at Shanghai ...
ZHAN Tianliu, YAN Zihang, WU Jinjin, CHEN Hao, CHEN Lijun, CHEN Yiwei, FU Lijun   +6 more
doaj   +1 more source

Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression

Frontiers in Genetics, 2022
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +1 more source

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients

, 2002
BACKGROUND: The concentration of cardiolipin (CL) in cultured skin fibroblasts is a useful indicator of Barth syndrome (BTHS; MIM 302060), but the sampling and culturing of fibroblasts are burdensome and time-consuming procedures. We investigated whether
Valianpour, Fredoen, Wanders, Ronald J. A., Overmars, Henk, Barth, Peter G., van Gennip, Albert H.   +4 more
core  

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders. [PDF]

J Innate Immun
Wolf A, Montanelli G, Mathis D, Felser A, Laemmle A, Nuoffer JM, Gautschi M, Bourquin C, Stojkov D.   +8 more
europepmc   +1 more source

A novel <i>TAFAZZIN</i> gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report. [PDF]

Front Pediatr
Krawiec M, Śliwka J, Pawlak S, Kapałka M, Hamerling P, Grzywacz W, Hawel W, Skórska G, Piekutowska-Abramczuk D, Hrapkowicz T.   +9 more
europepmc   +1 more source

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models. [PDF]

EMBO Mol Med
Passadouro AS, Balfoort BM, Langeveld M, van Karnebeek CDM, van der Velden J, Houtkooper RH, Mosegaard S.   +6 more
europepmc   +1 more source

Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome. [PDF]

Stem Cell Rev Rep
Sierra Potchanant EA, Capitano ML, Edwards DM, Ramdas B, Cooper S, Ropa J, Pay SL, Sheth A, Snider PL, Vernon HJ, Tran NT, Kapur R, Conway SJ.   +12 more
europepmc   +1 more source

Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report. [PDF]

Eur Heart J Case Rep
Ortmann L, Velasco D, Cole J.
europepmc   +1 more source

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome. [PDF]

Diabetologia
Carlein C, Hoffmann MDA, Bickelmann C, Amaral AG, Lotfinia A, de Selliers LA, Audouze-Chaud J, Wrublewsky S, Lauterbach MA, von der Malsburg K, van der Laan M, Bozem M, Hoth M, Gilon P, Ravier MA, Morgan B, Ampofo E, Higuchi T, Bertero E, Dudek J, Maack C, Roma LP.   +21 more
europepmc   +1 more source