165 related articles for article (PubMed ID: 37186429)
1. A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
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
Mol Genet Genomic Med; 2023 Jul; 11(7):e2190. PubMed ID: 37186429
[TBL] [Abstract][Full Text] [Related]
2. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.
Ronvelia D; Greenwood J; Platt J; Hakim S; Zaragoza MV
Mol Genet Metab; 2012 Nov; 107(3):428-32. PubMed ID: 23031367
[TBL] [Abstract][Full Text] [Related]
3. When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.
Ferri L; Dionisi-Vici C; Taurisano R; Vaz FM; Guerrini R; Morrone A
Clin Genet; 2016 Nov; 90(5):461-465. PubMed ID: 26853223
[TBL] [Abstract][Full Text] [Related]
4. Cardiolipin Remodeling Defects Impair Mitochondrial Architecture and Function in a Murine Model of Barth Syndrome Cardiomyopathy.
Zhu S; Chen Z; Zhu M; Shen Y; Leon LJ; Chi L; Spinozzi S; Tan C; Gu Y; Nguyen A; Zhou Y; Feng W; Vaz FM; Wang X; Gustafsson AB; Evans SM; Kunfu O; Fang X
Circ Heart Fail; 2021 Jun; 14(6):e008289. PubMed ID: 34129362
[TBL] [Abstract][Full Text] [Related]
5. Barth syndrome in a female patient.
Cosson L; Toutain A; Simard G; Kulik W; Matyas G; Guichet A; Blasco H; Maakaroun-Vermesse Z; Vaillant MC; Le Caignec C; Chantepie A; Labarthe F
Mol Genet Metab; 2012 May; 106(1):115-20. PubMed ID: 22410210
[TBL] [Abstract][Full Text] [Related]
6. Tafazzin splice variants and mutations in Barth syndrome.
Kirwin SM; Manolakos A; Barnett SS; Gonzalez IL
Mol Genet Metab; 2014 Jan; 111(1):26-32. PubMed ID: 24342716
[TBL] [Abstract][Full Text] [Related]
7. BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
Avdjieva-Tzavella DM; Todorova AP; Kathom H M ; Ivanova MB; Yordanova IT; Todorov TP; Litvinenko IO; Dasheva-Dimitrova AT; Tincheva RS
Genet Couns; 2016; 27(4):495-501. PubMed ID: 30226969
[TBL] [Abstract][Full Text] [Related]
8. New clinical and molecular insights on Barth syndrome.
Ferri L; Donati MA; Funghini S; Malvagia S; Catarzi S; Lugli L; Ragni L; Bertini E; Vaz FM; Cooper DN; Guerrini R; Morrone A
Orphanet J Rare Dis; 2013 Feb; 8():27. PubMed ID: 23409742
[TBL] [Abstract][Full Text] [Related]
9. Barth syndrome.
Jefferies JL
Am J Med Genet C Semin Med Genet; 2013 Aug; 163C(3):198-205. PubMed ID: 23843353
[TBL] [Abstract][Full Text] [Related]
10. Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.
Wang J; Guo Y; Huang M; Zhang Z; Zhu J; Liu T; Shi L; Li F; Huang H; Fu L
Orphanet J Rare Dis; 2017 Feb; 12(1):26. PubMed ID: 28183324
[TBL] [Abstract][Full Text] [Related]
11. Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide.
Sabbah HN
Heart Fail Rev; 2021 Mar; 26(2):237-253. PubMed ID: 33001359
[TBL] [Abstract][Full Text] [Related]
12. Splicing mutation in
Sivitskaya L; Danilenko N; Motuk I; Zhelev N
Acta Myol; 2021 Jun; 40(2):88-92. PubMed ID: 34355125
[TBL] [Abstract][Full Text] [Related]
13. Phospholipid abnormalities in children with Barth syndrome.
Schlame M; Kelley RI; Feigenbaum A; Towbin JA; Heerdt PM; Schieble T; Wanders RJ; DiMauro S; Blanck TJ
J Am Coll Cardiol; 2003 Dec; 42(11):1994-9. PubMed ID: 14662265
[TBL] [Abstract][Full Text] [Related]
14. Barth Syndrome Cardiomyopathy: An Update.
Pang J; Bao Y; Mitchell-Silbaugh K; Veevers J; Fang X
Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456462
[TBL] [Abstract][Full Text] [Related]
15. Barth syndrome.
Clarke SL; Bowron A; Gonzalez IL; Groves SJ; Newbury-Ecob R; Clayton N; Martin RP; Tsai-Goodman B; Garratt V; Ashworth M; Bowen VM; McCurdy KR; Damin MK; Spencer CT; Toth MJ; Kelley RI; Steward CG
Orphanet J Rare Dis; 2013 Feb; 8():23. PubMed ID: 23398819
[TBL] [Abstract][Full Text] [Related]
16. Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria.
Le CH; Benage LG; Specht KS; Li Puma LC; Mulligan CM; Heuberger AL; Prenni JE; Claypool SM; Chatfield KC; Sparagna GC; Chicco AJ
J Biol Chem; 2020 Aug; 295(35):12485-12497. PubMed ID: 32665401
[TBL] [Abstract][Full Text] [Related]
17. A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.
Zapała B; Płatek T; Wybrańska I
Ann Hum Genet; 2015 May; 79(3):218-24. PubMed ID: 25776009
[TBL] [Abstract][Full Text] [Related]
18. Defining functional classes of Barth syndrome mutation in humans.
Lu YW; Galbraith L; Herndon JD; Lu YL; Pras-Raves M; Vervaart M; Van Kampen A; Luyf A; Koehler CM; McCaffery JM; Gottlieb E; Vaz FM; Claypool SM
Hum Mol Genet; 2016 May; 25(9):1754-70. PubMed ID: 26908608
[TBL] [Abstract][Full Text] [Related]
19. Loss of tafazzin results in decreased myoblast differentiation in C2C12 cells: A myoblast model of Barth syndrome and cardiolipin deficiency.
Lou W; Reynolds CA; Li Y; Liu J; Hüttemann M; Schlame M; Stevenson D; Strathdee D; Greenberg ML
Biochim Biophys Acta Mol Cell Biol Lipids; 2018 Aug; 1863(8):857-865. PubMed ID: 29694924
[TBL] [Abstract][Full Text] [Related]
20. Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome.
Johnson JM; Ferrara PJ; Verkerke ARP; Coleman CB; Wentzler EJ; Neufer PD; Kew KA; de Castro Brás LE; Funai K
J Mol Cell Cardiol; 2018 Aug; 121():94-102. PubMed ID: 30008435
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
