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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. Among authors: liu j. Hum Mol Genet. 2019 Feb 15;28(4):539-547. doi: 10.1093/hmg/ddy358. Hum Mol Genet. 2019. PMID: 30307510 Free PMC article.
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. Among authors: liu j, liu z, liu s. Oncotarget. 2016 Aug 30;7(35):57430-57441. doi: 10.18632/oncotarget.10619. Oncotarget. 2016. PMID: 27437870 Free PMC article. Review.
Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.
Zhu Q, Wu N, Liu G, Zhou Y, Liu S, Chen J, Liu J, Zuo Y, Liu Z, Chen W, Chen Y, Chen J, Lin M, Zhao Y, Yang Y, Wang S, Yang X, Ma Y, Wang J, Chen X, Zhang J, Shen J, Wu Z, Qiu G. Zhu Q, et al. Among authors: liu j, liu z, liu s, liu g. J Cell Mol Med. 2018 Jan;22(1):533-545. doi: 10.1111/jcmm.13341. Epub 2017 Sep 25. J Cell Mol Med. 2018. PMID: 28944995 Free PMC article.
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: liu z, liu s, liu p, liu g. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group; Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics; Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. Liu J, et al. Among authors: liu z, liu s, liu p, liu g. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. Genet Med. 2019. PMID: 30636772 Free PMC article.
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. Among authors: liu j, liu y, liu p. 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.
Identification of novel FBN1 variations implicated in congenital scoliosis.
Lin M, Zhao S, Liu G, Huang Y, Yu C, Zhao Y, Wang L, Zhang Y, Yan Z, Wang S, Liu S, Liu J, Ye Y, Chen Y, Yang X, Tong B, Wang Z, Yang X, Niu Y, Li X, Wang Y, Su J, Yuan J, Zhao H, Zhang S, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Ikegawa S, Zhang J, Wu Z, Wu N. Lin M, et al. Among authors: liu j, liu s, liu g. J Hum Genet. 2020 Mar;65(3):221-230. doi: 10.1038/s10038-019-0698-x. Epub 2019 Dec 11. J Hum Genet. 2020. PMID: 31827250 Free PMC article.
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Rao J, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR, Zhang F. Yang N, et al. Among authors: liu j, liu z, liu p. Kidney Int. 2020 Oct;98(4):1020-1030. doi: 10.1016/j.kint.2020.04.045. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450157 Free PMC article.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: liu p. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492 Free PMC article.
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