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1993 2
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2004 5
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235 results

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Page 1
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. Wu N, et al. N Engl J Med. 2015 Jan 22;372(4):341-50. doi: 10.1056/NEJMoa1406829. Epub 2015 Jan 7. N Engl J Med. 2015. PMID: 25564734 Free PMC article.
We went on to identify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P<1.110(-6)). ...Hemivertebrae are characteristic of TBX6-associated congenital scoliosis. CONCLUSIONS: Compound inheritance of a rare null …
We went on to identify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P<1.110 …
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N. Li G, et al. Am J Med Genet A. 2022 Dec;188(12):3469-3481. doi: 10.1002/ajmg.a.62972. Epub 2022 Sep 26. Am J Med Genet A. 2022. PMID: 36161696 Free PMC article.
Heterozygous and biallelic variants in TBX6 are associated with vertebral and rib malformations (TBX6-associated congenital scoliosis) and spondylocostal dysostosis, and heterozygous TBX6 variants are associated with increased risk of genitourinary tract malf …
Heterozygous and biallelic variants in TBX6 are associated with vertebral and rib malformations (TBX6-associated congenital sc …
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Yang N, Wu N, Zhang L, Zhao Y, Liu J, Liang X, Ren X, Li W, Chen W, Dong S, Zhao S, Lin J, Xiang H, Xue H, Chen L, Sun H, Zhang J, Shi J, Zhang S, Lu D, Wu X, Jin L, Ding J, Qiu G, Wu Z, Lupski JR, Zhang F. Yang N, et al. Hum Mol Genet. 2019 Feb 15;28(4):539-547. doi: 10.1093/hmg/ddy358. Hum Mol Genet. 2019. PMID: 30307510 Free PMC article.
Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. ...These Tbx6 mutants are not identical to the patient variants at the DNA sequen …
Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a …
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Kuster-Hauser syndrome.
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJ, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group. Ma C, et al. Genet Med. 2022 Nov;24(11):2262-2273. doi: 10.1016/j.gim.2022.08.012. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36112137 Free article.
By comparing the prevalence of TBX6 variants in the Chinese MRKHS cohort vs 1038 female controls, we observed a significant mutational burden of TBX6 in affected individuals (P = .0004, odds ratio = 5.25), suggesting a causal role of TBX6 variants in MRKHS. . …
By comparing the prevalence of TBX6 variants in the Chinese MRKHS cohort vs 1038 female controls, we observed a significant mutationa …
Progress and perspective of TBX6 gene in congenital vertebral malformations.
Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z. Chen W, et al. Oncotarget. 2016 Aug 30;7(35):57430-57441. doi: 10.18632/oncotarget.10619. Oncotarget. 2016. PMID: 27437870 Free PMC article. Review.
In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX6 gene plays an important role. TBX6 is a member of the T-box gene family, and its important pathogenicity in spinal deformity has …
In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX6 …
Tbx6 induces cardiomyocyte proliferation in postnatal and adult mouse hearts.
Haginiwa S, Sadahiro T, Kojima H, Isomi M, Tamura F, Kurotsu S, Tani H, Muraoka N, Miyake N, Miyake K, Fukuda K, Ieda M. Haginiwa S, et al. Biochem Biophys Res Commun. 2019 Jun 11;513(4):1041-1047. doi: 10.1016/j.bbrc.2019.04.087. Epub 2019 Apr 19. Biochem Biophys Res Commun. 2019. PMID: 31010673
We next generated a recombinant adeno-associated virus serotype 9 vector encoding Tbx6 (AAV9-Tbx6) for transduction into mouse CMs in vivo. The subcutaneous injection of AAV9-Tbx6 into neonatal mice induced CM proliferation in postnatal and adult mouse hearts …
We next generated a recombinant adeno-associated virus serotype 9 vector encoding Tbx6 (AAV9-Tbx6) for transduction into mouse …
Transcriptional autoregulation of zebrafish tbx6 is required for somite segmentation.
Ban H, Yokota D, Otosaka S, Kikuchi M, Kinoshita H, Fujino Y, Yabe T, Ovara H, Izuka A, Akama K, Yamasu K, Takada S, Kawamura A. Ban H, et al. Development. 2019 Sep 19;146(18):dev177063. doi: 10.1242/dev.177063. Development. 2019. PMID: 31444219
The presumptive somite boundary in the presomitic mesoderm (PSM) is defined by the anterior border of the expression domain of Tbx6 protein. During somite segmentation, the expression domain of Tbx6 is regressed by Ripply-meditated degradation of Tbx6 protein …
The presumptive somite boundary in the presomitic mesoderm (PSM) is defined by the anterior border of the expression domain of Tbx6 p …
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Ren X, Yang N, Wu N, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, Jin L, Qiu G, Lupski JR, Shi J, Zhang F, Liu P. Ren X, et al. J Med Genet. 2020 Jun;57(6):371-379. doi: 10.1136/jmedgenet-2019-106333. Epub 2019 Dec 30. J Med Genet. 2020. PMID: 31888956 Free PMC article.
The spinal assessments in seven duplication carriers showed that four (57%) presented characteristics of CVMs, supporting the contention that increased TBX6 dosage could induce CVMs. For further in vivo functional investigation in a model organism, we conducted genome edit …
The spinal assessments in seven duplication carriers showed that four (57%) presented characteristics of CVMs, supporting the contention tha …
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. Chen W, et al. Hum Mutat. 2020 Jan;41(1):182-195. doi: 10.1002/humu.23907. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31471994 Free PMC article.
From exome sequencing (ES) data of 523 patients in Asia and two patients in Texas, we identified six TBX6 gene-disruptive variants from 11 unrelated CS patients via ES and in vitro functional testing. ...We found decreased transcriptional activity and abnormal cellular loc …
From exome sequencing (ES) data of 523 patients in Asia and two patients in Texas, we identified six TBX6 gene-disruptive variants fr …
Functionally distinct roles for T and Tbx6 during mouse development.
Wehn AK, Farkas DR, Sedlock CE, Subedi D, Chapman DL. Wehn AK, et al. Biol Open. 2020 Aug 27;9(8):bio054692. doi: 10.1242/bio.054692. Biol Open. 2020. PMID: 32855167 Free PMC article.
The mouse T-box transcription factors T and Tbx6 are co-expressed in the primitive streak and have unique domains of expression; T is expressed in the notochord, while Tbx6 is expressed in the presomitic mesoderm. ...We further show using in vitro assays that T and …
The mouse T-box transcription factors T and Tbx6 are co-expressed in the primitive streak and have unique domains of expression; T is …
235 results