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   TAZbase
   Variation registry for  Barth syndrome


TAZbase mutation publications

[2010] [2008] [2007] [2006] [2004] [2003] [2002] [2001] [1999] [1997] [1996] [1994] [1993] [1991] [1983] [ ]

Search PubMed latest citations for TAZ mutations

    2010

  • Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.
    Chang B, Momoi N, Shan L, Mitomo M, Aoyagi Y, Endo K, Takeda I, Chen R, Xing Y, Yu X, Watanabe S, Yoshida T, Kanegane H, Tsubata S, Bowles NE, Ichida F, Miyawaki T,
    Mol Genet Metab 2010(2): 198-203 [PubMed abstract].

    2008

  • Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.
    Yen TY, Hwu WL, Chien YH, Wu MH, Lin MT, Tsao LY, Hsieh WS, Lee NC
    Eur J Pediatr 2008(8): 941-4 [PubMed abstract].

    2007

  • Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.
    Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, Grasso M, Pilotto A, Porcu E, Raisaro A, Raineri C, Dore R, Maggio PP, Brega A, Arbustini E
    Am J Med Genet A 2007(9): 907-15 [PubMed abstract].

  • Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.
    Kirwin SM, Vinette KM, Schwartz SB, Funanage VL, Gonzalez IL
    Fertil Steril 2007(4): 976.e5-7 [PubMed abstract].

    2006

  • Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
    Donati MA, Malvagia S, Pasquini E, Morrone A, La Marca G, Garavaglia B, Toniolo D, Zammarchi E
    J Inherit Metab Dis 2006(5): 684 [PubMed abstract].

  • Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
    van Werkhoven MA, Thorburn DR, Gedeon AK, Pitt JJ
    J Lipid Res 2006(10): 2346-51 [PubMed abstract].

  • Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.
    Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA
    Mol Genet Metab 2006(1): 71-7 [PubMed abstract].

    2004

  • Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.
    Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG
    Blood 2004(10): 3915-23 [PubMed abstract].

    2003

  • A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
    Vesel S, Stopar-Obreza M, Trebusak-Podkrajsek K, Jazbec J, Podnar T, Battelino T
    Eur J Hum Genet 2003(1): 97-101 [PubMed abstract].

    2002

  • Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
    Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K
    J Hum Genet 2002(5): 229-31 [PubMed abstract].

  • Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction.
    Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA,
    Mol Genet Metab 2002(4): 319-25 [PubMed abstract].

  • Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
    Bissler JJ, Tsoras M, Göring HH, Hug P, Chuck G, Tombragel E, McGraw C, Schlotman J, Ralston MA, Hug G
    Lab Invest 2002(3): 335-44 [PubMed abstract].

    2001

  • A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.
    Sakamoto O, Ohura T, Katsushima Y, Fujiwara I, Ogawa E, Miyabayashi S, Iinuma K
    Hum Genet 2001(5): 559-63 [PubMed abstract].

  • Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
    Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA
    Circulation 2001(9): 1256-63 [PubMed abstract].

    1999

  • Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
    Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG
    J Pediatr 1999(3): 311-5 [PubMed abstract].

    1997

  • Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
    Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K
    Am J Hum Genet 1997(4): 868-72 [PubMed abstract].

  • Mutation characterization and genotype-phenotype correlation in Barth syndrome.
    Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R
    Am J Hum Genet 1997(5): 1053-8 [PubMed abstract].

  • Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.
    Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, Ward K, Chin TK
    Am J Med Genet 1997(3): 257-65 [PubMed abstract].

  • The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
    D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D
    Am J Hum Genet 1997(4): 862-7 [PubMed abstract].

    1996

  • A novel X-linked gene, G4.5. is responsible for Barth syndrome.
    Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D
    Nat Genet 1996(4): 385-9 [PubMed abstract].

    1994

  • Barth syndrome: clinical observations and genetic linkage studies.
    Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt BA, Bridge PJ, Robinson BH, Clarke JT
    Am J Med Genet 1994(3): 255-64 [PubMed abstract].

    1993

  • Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
    Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO
    Am J Med Genet 1993(3): 327-34 [PubMed abstract].

    1991

  • Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.
    Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG
    Am J Hum Genet 1991(3): 481-5 [PubMed abstract].

  • X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
    Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, Swisher WP
    J Pediatr 1991(5): 738-47 [PubMed abstract].

    1983

  • An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.
    Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IE, Van 't Veer-Korthof ET, Van der Harten JJ, Sobotka-Plojhar MA
    J Neurol Sci 1983(1-3): 327-55 [PubMed abstract].

  • A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.
    Bachou T, Giannakopoulos A, Trapali C, Vazeou A, Kattamis A
    Blood Cells Mol Dis (3): 262-4 [PubMed abstract].