PubMed (cited) for id: 605101

Year	Number of Results
1996	1
2000	1
2002	1
2003	1
2005	1
2006	2
2009	1
2010	1
2011	1
2015	1
2016	2
2017	1
2018	1
2019	1
2020	1
2024	0

1

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. Chen J, et al. BMC Cardiovasc Disord. 2020 Jan 20;20(1):27. doi: 10.1186/s12872-019-01322-1. BMC Cardiovasc Disord. 2020. PMID: 31959127 Free PMC article.

2

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. Morlino S, et al. Hum Mutat. 2019 Oct;40(10):1886-1898. doi: 10.1002/humu.23834. Epub 2019 Jun 27. Hum Mutat. 2019. PMID: 31250519

3

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. Ritelli M, et al. Clin Genet. 2018 Jan;93(1):126-133. doi: 10.1111/cge.13032. Epub 2017 Aug 21. Clin Genet. 2018. PMID: 28386937

4

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. Ackerman JP, et al. Congenit Heart Dis. 2016 Sep;11(5):452-461. doi: 10.1111/chd.12400. Epub 2016 Jul 25. Congenit Heart Dis. 2016. PMID: 27452334

5

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. Wade EM, et al. Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15. Am J Hum Genet. 2016. PMID: 27426733 Free PMC article.

6

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.

Weiss K, Applegate C, Wang T, Batista DA. Weiss K, et al. Am J Med Genet A. 2015 Nov;167A(11):2702-6. doi: 10.1002/ajmg.a.37210. Epub 2015 Jul 2. Am J Med Genet A. 2015. PMID: 26139517

7

Cysteine methylation disrupts ubiquitin-chain sensing in NF-κB activation.

Zhang L, Ding X, Cui J, Xu H, Chen J, Gong YN, Hu L, Zhou Y, Ge J, Lu Q, Liu L, Chen S, Shao F. Zhang L, et al. Nature. 2011 Dec 11;481(7380):204-8. doi: 10.1038/nature10690. Nature. 2011. PMID: 22158122

8

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. Thienpont B, et al. Am J Hum Genet. 2010 Jun 11;86(6):839-49. doi: 10.1016/j.ajhg.2010.04.011. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493459 Free PMC article.

9

Direct activation of protein kinases by unanchored polyubiquitin chains.

Xia ZP, Sun L, Chen X, Pineda G, Jiang X, Adhikari A, Zeng W, Chen ZJ. Xia ZP, et al. Nature. 2009 Sep 3;461(7260):114-9. doi: 10.1038/nature08247. Epub 2009 Aug 12. Nature. 2009. PMID: 19675569 Free PMC article.

10

Presenilin-dependent ErbB4 nuclear signaling regulates the timing of astrogenesis in the developing brain.

Sardi SP, Murtie J, Koirala S, Patten BA, Corfas G. Sardi SP, et al. Cell. 2006 Oct 6;127(1):185-97. doi: 10.1016/j.cell.2006.07.037. Cell. 2006. PMID: 17018285 Free article.

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