Results 111 to 120 of about 7,513 (190)

Barth Syndrome

Pediatric Cardiology and Cardiac Surgery, 2016
openaire   +2 more sources

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome. [PDF]

J Cachexia Sarcopenia Muscle
Matias C, Snider PL, Sierra Potchanant EA, Huot JR, Raghav R, Chin MT, Conway SJ, Brault JJ.   +7 more
europepmc   +1 more source

Correction to: 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

Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome. [PDF]

Nat Metab, 2023
Kagan VE, Tyurina YY, Mikulska-Ruminska K, Damschroder D, Vieira Neto E, Lasorsa A, Kapralov AA, Tyurin VA, Amoscato AA, Samovich SN, Souryavong AB, Dar HH, Ramim A, Liang Z, Lazcano P, Ji J, Schmidtke MW, Kiselyov K, Korkmaz A, Vladimirov GK, Artyukhova MA, Rampratap P, Cole LK, Niyatie A, Baker EK, Peterson J, Hatch GM, Atkinson J, Vockley J, Kühn B, Wessells R, van der Wel PCA, Bahar I, Bayir H, Greenberg ML.   +34 more
europepmc   +1 more source

Letter to the Editor: CRISPR-based gene editing for cardiac protection in Barth syndrome. [PDF]

Ann Med Surg (Lond)
Abedin ZU, Waggan AI, Khan E, Suleman MU, Tabassum SN.   +4 more
europepmc   +1 more source

Barth Syndrome [PDF]

, 2019
openaire   +1 more source

Reproductive decision-making for Barth syndrome carriers: Unexplored complexities. [PDF]

J Genet Couns
Castro J, James CA, Owczarzak J, McClellan R, Jamal L.   +4 more
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

3D bioprinted myocardium patches for rare Barth syndrome: TAZ mutation correction in cardioblasts. [PDF]

Ann Med Surg (Lond)
Tahir A, Imtiaz E, Mahato RK.
europepmc   +1 more source

Human pluripotent stem cell models of the mitochondrial cardiomyopathy disease genes AGK (Sengers syndrome) and TAFAZZIN (Barth syndrome)

© 2024 Yau Chung LowMitochondrial diseases are a group of complex genetic disorders that affect energy generation. They are caused by variants in genes encoded either by the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA).
Low, Yau Chung
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