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Journal Abstract Search

119 related items for PubMed ID: 28386937

  • 1. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
    Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M.
    Clin Genet; 2018 Jan; 93(1):126-133. PubMed ID: 28386937
    [Abstract] [Full Text] [Related]

  • 2. Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.
    Ackerman JP, Smestad JA, Tester DJ, Qureshi MY, Crabb BA, Mendelsohn NJ, Ackerman MJ.
    Congenit Heart Dis; 2016 Sep; 11(5):452-461. PubMed ID: 27452334
    [Abstract] [Full Text] [Related]

  • 3. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.
    Weiss K, Applegate C, Wang T, Batista DA.
    Am J Med Genet A; 2015 Nov; 167A(11):2702-6. PubMed ID: 26139517
    [Abstract] [Full Text] [Related]

  • 4. A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.
    Chen J, Yuan H, Xie K, Wang X, Tan L, Zou Y, Yang Y, Pan L, Xiao J, Chen G, Liu Y.
    BMC Cardiovasc Disord; 2020 Jan 20; 20(1):27. PubMed ID: 31959127
    [Abstract] [Full Text] [Related]

  • 5. TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
    Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PE.
    Clin Genet; 2022 Feb 20; 101(2):214-220. PubMed ID: 34741306
    [Abstract] [Full Text] [Related]

  • 6. Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
    Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E.
    Eur J Med Genet; 2010 Feb 20; 53(1):29-34. PubMed ID: 19932204
    [Abstract] [Full Text] [Related]

  • 7. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
    Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP.
    Am J Hum Genet; 2016 Aug 04; 99(2):392-406. PubMed ID: 27426733
    [Abstract] [Full Text] [Related]

  • 8. A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
    Morlino S, Castori M, Dordoni C, Cinquina V, Santoro G, Grammatico P, Venturini M, Colombi M, Ritelli M.
    Eur J Hum Genet; 2018 Apr 04; 26(4):582-586. PubMed ID: 29467388
    [Abstract] [Full Text] [Related]

  • 9. There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.
    Westphal DS, Mastantuono E, Seidel H, Riedhammer KM, Hahn A, Vill K, Wagner M.
    Gene; 2022 Mar 10; 814():146167. PubMed ID: 34995729
    [Abstract] [Full Text] [Related]

  • 10. Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
    Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M.
    Genet Med; 2022 Feb 10; 24(2):439-453. PubMed ID: 34906501
    [Abstract] [Full Text] [Related]

  • 11. TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
    Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L.
    Hum Mutat; 2019 Oct 10; 40(10):1886-1898. PubMed ID: 31250519
    [Abstract] [Full Text] [Related]

  • 12. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
    Engwerda A, Leenders EKSM, Frentz B, Terhal PA, Löhner K, de Vries BBA, Dijkhuizen T, Vos YJ, Rinne T, van den Berg MP, Roofthooft MTR, Deelen P, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS.
    Eur J Hum Genet; 2021 Nov 10; 29(11):1669-1676. PubMed ID: 34456334
    [Abstract] [Full Text] [Related]

  • 13. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
    Cannaerts E, Shukla A, Hasanhodzic M, Alaerts M, Schepers D, Van Laer L, Girisha KM, Hojsak I, Loeys B, Verstraeten A.
    BMC Med Genet; 2018 Aug 08; 19(1):140. PubMed ID: 30089473
    [Abstract] [Full Text] [Related]

  • 14. Expanding the phenotype of TAB2 variants and literature review.
    Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M.
    Am J Med Genet A; 2022 Nov 08; 188(11):3331-3342. PubMed ID: 35971781
    [Abstract] [Full Text] [Related]

  • 15. Haploinsufficiency of TAB2 causes congenital heart defects in humans.
    Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA.
    Am J Hum Genet; 2010 Jun 11; 86(6):839-49. PubMed ID: 20493459
    [Abstract] [Full Text] [Related]

  • 16. A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.
    Permanyer E, Laurie S, Blasco-Lucas A, Maldonado G, Amador-Catalan A, Ferrer-Curriu G, Fuste B, Perez ML, Gonzalez-Alujas T, Beltran S, Comas-Riu J, Bardají A, Evangelista A, Galiñanes M.
    Eur J Med Genet; 2020 Apr 11; 63(4):103854. PubMed ID: 31981616
    [Abstract] [Full Text] [Related]

  • 17. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
    Xu W, Graves A, Weisz-Hubshman M, Hegazy L, Magyar C, Liu Z, Nasiotis E, Samee MAH, Burris T, Lalani S, Zhang L.
    Hum Mol Genet; 2023 Mar 06; 32(6):959-970. PubMed ID: 36229919
    [Abstract] [Full Text] [Related]

  • 18. TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
    Morlon A, Munnich A, Smahi A.
    Hum Mol Genet; 2005 Dec 01; 14(23):3751-7. PubMed ID: 16251197
    [Abstract] [Full Text] [Related]

  • 19. Polyvalvular heart disease syndrome.
    Kerut EK, Ascuitto R, Ross-Ascuitto N, McKinnie JJ.
    Echocardiography; 2018 May 01; 35(5):727-729. PubMed ID: 29457266
    [Abstract] [Full Text] [Related]

  • 20. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
    Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.
    Am J Med Genet A; 2017 Jul 01; 173(7):1739-1746. PubMed ID: 28498505
    [Abstract] [Full Text] [Related]

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