195 related articles for article (PubMed ID: 28588275)
1. De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
Nishi A; Numata S; Tajima A; Zhu X; Ito K; Saito A; Kato Y; Kinoshita M; Shimodera S; Ono S; Ochi S; Imamura A; Kurotaki N; Ueno SI; Iwata N; Fukui K; Imoto I; Kamiya A; Ohmori T
Sci Rep; 2017 Jun; 7(1):2887. PubMed ID: 28588275
[TBL] [Abstract][Full Text] [Related]
2. A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA; Jongejan A; Watson PJ; Redeker B; Boelen A; Boudzovitch-Surovtseva O; Forzano F; Hordijk R; Kelley R; Olney AH; Pierpont ME; Schaefer GB; Stewart F; van Trotsenburg AS; Fliers E; Schwabe JW; Hennekam RC
J Med Genet; 2016 May; 53(5):330-7. PubMed ID: 26769062
[TBL] [Abstract][Full Text] [Related]
3. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Slavotinek A; Pua H; Hodoglugil U; Abadie J; Shieh J; Van Ziffle J; Kvale M; Lee H; Kwok PY; Risch N; Sabbadini M
Eur J Med Genet; 2017 Oct; 60(10):504-508. PubMed ID: 28687524
[TBL] [Abstract][Full Text] [Related]
4. TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Lemattre C; Thevenon J; Duffourd Y; Nambot S; Haquet E; Vuadelle B; Genevieve D; Sarda P; Bruel AL; Kuentz P; Wells CF; Faivre L; Willems M
Am J Med Genet A; 2018 Dec; 176(12):2813-2818. PubMed ID: 30365874
[TBL] [Abstract][Full Text] [Related]
5. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
Saitsu H; Tohyama J; Walsh T; Kato M; Kobayashi Y; Lee M; Tsurusaki Y; Miyake N; Goto Y; Nishino I; Ohtake A; King MC; Matsumoto N
J Hum Genet; 2014 Oct; 59(10):581-3. PubMed ID: 25102098
[TBL] [Abstract][Full Text] [Related]
6. Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M; Zheng H; Lu X; Lian W; Feng B
Gene; 2023 Nov; 886():147777. PubMed ID: 37683765
[TBL] [Abstract][Full Text] [Related]
7. The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP.
Jung H; Yoo HY; Lee SH; Shin S; Kim SC; Lee S; Joung JG; Nam JY; Ryu D; Yun JW; Choi JK; Ghosh A; Kim KK; Kim SJ; Kim WS; Park WY; Ko YH
Oncotarget; 2017 Mar; 8(10):17038-17049. PubMed ID: 28152507
[TBL] [Abstract][Full Text] [Related]
8. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Riehmer V; Erger F; Herkenrath P; Seland S; Jackels M; Wiater A; Heller R; Beck BB; Netzer C
Am J Med Genet A; 2017 Aug; 173(8):2132-2138. PubMed ID: 28574232
[TBL] [Abstract][Full Text] [Related]
9. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
Quan Y; Zhang Q; Chen M; Wu H; Ou J; Shen Y; Li K; Xun G; Zhao J; Hu Z; Xia K; Guo H
J Mol Neurosci; 2020 Dec; 70(12):2085-2092. PubMed ID: 32524419
[TBL] [Abstract][Full Text] [Related]
10. Rare variant of TBL1XR1 in West syndrome: A case report.
Shen Y; Yuan M; Luo H; Yang Z; Liang M; Gan J
Mol Genet Genomic Med; 2022 Jul; 10(7):e1991. PubMed ID: 35611576
[TBL] [Abstract][Full Text] [Related]
11. TBL1XR1 Mutations Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.
Venturutti L; Teater M; Zhai A; Chadburn A; Babiker L; Kim D; Béguelin W; Lee TC; Kim Y; Chin CR; Yewdell WT; Raught B; Phillip JM; Jiang Y; Staudt LM; Green MR; Chaudhuri J; Elemento O; Farinha P; Weng AP; Nissen MD; Steidl C; Morin RD; Scott DW; Privé GG; Melnick AM
Cell; 2020 Jul; 182(2):297-316.e27. PubMed ID: 32619424
[TBL] [Abstract][Full Text] [Related]
12. A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.
Wu XH; Lin SZ; Liu ZX; Qi YF; Wang WQ; Li JY; Chen QD; Yang LL
Medicine (Baltimore); 2023 May; 102(19):e33744. PubMed ID: 37171308
[TBL] [Abstract][Full Text] [Related]
13. De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Tabet AC; Leroy C; Dupont C; Serrano E; Hernandez K; Gallard J; Pouvreau N; Gadisseux JF; Benzacken B; Verloes A
Am J Med Genet A; 2014 Sep; 164A(9):2335-7. PubMed ID: 24891185
[TBL] [Abstract][Full Text] [Related]
14. Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
Laskowski RA; Tyagi N; Johnson D; Joss S; Kinning E; McWilliam C; Splitt M; Thornton JM; Firth HV; ; Wright CF
Hum Mol Genet; 2016 Mar; 25(5):927-35. PubMed ID: 26740553
[TBL] [Abstract][Full Text] [Related]
15. Transducin (β)-like 1 X-linked receptor 1 promotes gastric cancer progression via the ERK1/2 pathway.
Zhou Q; Wang X; Yu Z; Wu X; Chen X; Li J; Zhu Z; Liu B; Su L
Oncogene; 2017 Mar; 36(13):1873-1886. PubMed ID: 27694893
[TBL] [Abstract][Full Text] [Related]
16. Transducin β-like 1 X-linked receptor 1 suppresses cisplatin sensitivity in nasopharyngeal carcinoma via activation of NF-κB pathway.
Chen SP; Yang Q; Wang CJ; Zhang LJ; Fang Y; Lei FY; Wu S; Song LB; Guo X; Guo L
Mol Cancer; 2014 Aug; 13():195. PubMed ID: 25145705
[TBL] [Abstract][Full Text] [Related]
17. Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
Chen R; Davis LK; Guter S; Wei Q; Jacob S; Potter MH; Cox NJ; Cook EH; Sutcliffe JS; Li B
Mol Autism; 2017; 8():14. PubMed ID: 28344757
[TBL] [Abstract][Full Text] [Related]
18. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
Arroyo Carrera I; Fernández-Burriel M; Lapunzina P; Tenorio JA; García Navas VD; Márquez Isidro E
Clin Genet; 2021 Jun; 99(6):812-817. PubMed ID: 33527360
[TBL] [Abstract][Full Text] [Related]
19. Correlations between TBL1XR1 and recurrence of colorectal cancer.
Liu H; Xu Y; Zhang Q; Li K; Wang D; Li S; Ning S; Yang H; Shi W; Liu Z; Chen Y
Sci Rep; 2017 Mar; 7():44275. PubMed ID: 28295012
[TBL] [Abstract][Full Text] [Related]
20. A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.
García-Payá E; Sirera Sirera P; Huertas-García I; Hernández Romero SD; Olivas García J
Cytogenet Genome Res; 2023; 163(5-6):295-300. PubMed ID: 37844553
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
