Results 121 to 130 of about 7,513 (190)

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

Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndrome. [PDF]

BMJ Case Rep, 2022
Kudlaty E, Agnihotri N, Khojah A.
europepmc   +1 more source

Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model. [PDF]

FASEB J
Tongu Y, Kasahara T, Matsuhashi T, Oikawa Y, Akimoto R, Luo Y, Sekine S, Suzuki M, Kashiwagi H, Kanno S, Tanaka Y, Sato K, Okubo Y, Muto A, Tokuno H, Suzuki C, Kawabe C, Ishikawa T, Watanabe S, Kikuchi K, Itai S, Sato T, Suzuki T, Igarashi K, Fukuda S, Soga T, Murayama K, Kuranaga E, Toyohara T, Abe T.   +29 more
europepmc   +1 more source

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome. [PDF]

PLoS One, 2023
Schweitzer GG, Ditzenberger GL, Hughey CC, Finck BN, Martino MR, Pacak CA, Byrne BJ, Cade WT.   +7 more
europepmc   +1 more source

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue. [PDF]

EMBO Mol Med
Schomakers BV, Passadouro AS, Trętowicz MM, Simpson PJ, Jaspers YRJ, van Weeghel M, Hu IM, Lamboo CME, Cloutier D, Byrne BJ, van Klinken JB, Janssen PML, Piersma SR, Jimenez CR, Vaz FM, Salomons GS, van der Velden J, Houtkooper RH, Mosegaard S.   +18 more
europepmc   +1 more source

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

J Pharm Pharm Sci
Shafaati T, Greenwell AA, Saed CT, Tabatabaei Dakhili SA, Chan JSF, Dong L, Stenlund MJ, Ferrari SR, Han R, Kruger J, Eaton F, Gopal K, Davidge ST, Oudit GY, Ussher JR.   +14 more
europepmc   +1 more source

Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome. [PDF]

Hum Mol Genet, 2023
Wang S, Yazawa E, Keating EM, Mazumdar N, Hauschild A, Ma Q, Wu H, Xu Y, Shi X, Strathdee D, Gerszten RE, Schlame M, Pu WT.   +12 more
europepmc   +1 more source

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

Mol Genet Genomic Med, 2023
Takeda A, Ueki M, Abe J, Maeta K, Horiguchi T, Yamazawa H, Izumi G, Chida-Nagai A, Sasaki D, Tsujioka T, Sato I, Shiraishi M, Matsuo M.   +12 more
europepmc   +1 more source

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome. [PDF]

JIMD Rep
Cade WT, Bohnert KL, Peterson LR, Fuentes LL, Poehlein E, Green CL, Pacak CA, Byrne BJ, Reeds DN, Bashir A, Feingold B, Taylor C.   +11 more
europepmc   +1 more source

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]

Occup Ther Int, 2023
Lim Y, Hong I, Han A.
europepmc   +1 more source