Cai T - Search Results

1

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.

Cai T, Yang L, Cai W, Guo S, Yu P, Li J, Hu X, Yan M, Shao Q, Jin Y, Sun ZS, Luo ZJ. Cai T, et al. Among authors: cai w. Proc Natl Acad Sci U S A. 2015 Jun 30;112(26):8064-9. doi: 10.1073/pnas.1502454112. Epub 2015 Jun 15. Proc Natl Acad Sci U S A. 2015. PMID: 26077908 Free PMC article.

2

Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.

Yu P, Cui Y, Cai W, Wu H, Xiao X, Shao Q, Ma L, Guo S, Wu N, Jin ZB, Wang Y, Cai T, Sun ZS, Qu J. Yu P, et al. Among authors: cai w, cai t. Genet Med. 2015 Dec;17(12):971-9. doi: 10.1038/gim.2015.10. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741867 Free article.

3

Mutations in WNT10B Are Identified in Individuals with Oligodontia.

Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T. Yu P, et al. Among authors: cai t. Am J Hum Genet. 2016 Jul 7;99(1):195-201. doi: 10.1016/j.ajhg.2016.05.012. Epub 2016 Jun 16. Am J Hum Genet. 2016. PMID: 27321946 Free PMC article.

4

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.

Guo S, Yang L, Liu H, Chen W, Li J, Yu P, Sun ZS, Chen X, Du J, Cai T. Guo S, et al. Among authors: cai t. Mol Neurobiol. 2017 Aug;54(6):4636-4643. doi: 10.1007/s12035-016-9991-2. Epub 2016 Jul 9. Mol Neurobiol. 2017. PMID: 27395053

5

Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.

Luo ZJ, Li H, Yang L, Kang B, Cai T. Luo ZJ, et al. Among authors: cai t. Bone. 2022 Oct;163:116508. doi: 10.1016/j.bone.2022.116508. Epub 2022 Jul 28. Bone. 2022. PMID: 35907616

6

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.

Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS. Bi C, et al. Among authors: cai w, cai t. Hum Mutat. 2012 Dec;33(12):1635-8. doi: 10.1002/humu.22174. Epub 2012 Aug 24. Hum Mutat. 2012. PMID: 22865819

7

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

Li J, Cai T, Jiang Y, Chen H, He X, Chen C, Li X, Shao Q, Ran X, Li Z, Xia K, Liu C, Sun ZS, Wu J. Li J, et al. Among authors: cai t. Mol Psychiatry. 2016 Feb;21(2):290-7. doi: 10.1038/mp.2015.40. Epub 2015 Apr 7. Mol Psychiatry. 2016. PMID: 25849321 Free PMC article.

8

The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.

Yang L, Yu P, Chen X, Cai T. Yang L, et al. Among authors: cai t. Mol Med Rep. 2016 Aug;14(2):1693-6. doi: 10.3892/mmr.2016.5429. Epub 2016 Jun 23. Mol Med Rep. 2016. PMID: 27357517 Review.

9

Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree.

Wang Z, Cai W, Cui F, Cai T, Chen Z, Mao F, Teng H, Chen L, Wang J, Sun Z, Huang X, Yu P. Wang Z, et al. Among authors: cai w, cai t. Neurobiol Aging. 2014 Mar;35(3):725.e11-5. doi: 10.1016/j.neurobiolaging.2013.08.024. Epub 2013 Oct 1. Neurobiol Aging. 2014. PMID: 24094577

10

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.

Wu J, Yu P, Jin X, Xu X, Li J, Li Z, Wang M, Wang T, Wu X, Jiang Y, Cai W, Mei J, Min Q, Xu Q, Zhou B, Guo H, Wang P, Zhou W, Hu Z, Li Y, Cai T, Wang Y, Xia K, Jiang YH, Sun ZS. Wu J, et al. Among authors: cai w, cai t. J Genet Genomics. 2018 Oct 20;45(10):527-538. doi: 10.1016/j.jgg.2018.09.002. Epub 2018 Oct 21. J Genet Genomics. 2018. PMID: 30392784

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