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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Wu, Nan ; Ming, Xuan ; Xiao, Jianqiu ; Wu, Zhihong ; Chen, Xiaoli ; Shinawi, Marwan ; Shen, Yiping ; Yu, Guangju ; Liu, Jiaqi ; Xie, Hua ; Gucev, Zoran S ; Liu, Sen ; Yang, Nan ; Al-Kateb, Hussam ; Chen, Jun ; Zhang, Jian ; Hauser, Natalie ; Zhang, Ting ; Tasic, Velibor ; Liu, Pengfei ; Su, Xinlin ; Pan, Xuedong ; Liu, Chunyu ; Wang, Liwen ; Shen, Joseph ; Shen, Jianxiong ; Chen, Yulin ; Zhang, Ting ; Zhang, Jianguo ; Choy, Kwong Wai ; Wang, Jun ; Wang, Qiqi ; Li, Shugang ; Zhou, Weichen ; Guo, Jin ; Wang, Yipeng ; Zhang, Cheng ; Zhao, Hong ; An, Yu ; Zhao, Yu ; Wang, Jiucun ; Liu, Zhenlei ; Zuo, Yuzhi ; Tian, Ye ; Weng, Xisheng ; Sutton, V. Reid ; Wang, Hongyan ; Ming, Yue ; Kulkarni, Shashikant ; Zhong, Tao P ; Giampietro, Philip F ; Dunwoodie, Sally L ; Cheung, Sau Wai ; Zhang, Xue ; Jin, Li ; Lupski, James R ; Qiu, Guixing ; Zhang, Feng

The New England journal of medicine, 2015-01, Vol.372 (4), p.341-350 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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Título:
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
Autor: Wu, Nan ; Ming, Xuan ; Xiao, Jianqiu ; Wu, Zhihong ; Chen, Xiaoli ; Shinawi, Marwan ; Shen, Yiping ; Yu, Guangju ; Liu, Jiaqi ; Xie, Hua ; Gucev, Zoran S ; Liu, Sen ; Yang, Nan ; Al-Kateb, Hussam ; Chen, Jun ; Zhang, Jian ; Hauser, Natalie ; Zhang, Ting ; Tasic, Velibor ; Liu, Pengfei ; Su, Xinlin ; Pan, Xuedong ; Liu, Chunyu ; Wang, Liwen ; Shen, Joseph ; Shen, Jianxiong ; Chen, Yulin ; Zhang, Ting ; Zhang, Jianguo ; Choy, Kwong Wai ; Wang, Jun ; Wang, Qiqi ; Li, Shugang ; Zhou, Weichen ; Guo, Jin ; Wang, Yipeng ; Zhang, Cheng ; Zhao, Hong ; An, Yu ; Zhao, Yu ; Wang, Jiucun ; Liu, Zhenlei ; Zuo, Yuzhi ; Tian, Ye ; Weng, Xisheng ; Sutton, V. Reid ; Wang, Hongyan ; Ming, Yue ; Kulkarni, Shashikant ; Zhong, Tao P ; Giampietro, Philip F ; Dunwoodie, Sally L ; Cheung, Sau Wai ; Zhang, Xue ; Jin, Li ; Lupski, James R ; Qiu, Guixing ; Zhang, Feng
Assuntos: Adolescent ; Alleles ; Asian Continental Ancestry Group - genetics ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16 ; Congenital diseases ; DNA Copy Number Variations ; DNA sequencing ; Female ; Gene deletion ; Genes ; Genetic counseling ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Health aspects ; Hemoglobin ; Heredity ; Humans ; Hybridization ; Male ; Mutation ; Patients ; Pedigree ; Phenotype ; Phenotypes ; Radiography ; Replication ; Risk factors ; Scoliosis ; Scoliosis - congenital ; Scoliosis - diagnostic imaging ; Scoliosis - genetics ; Sequence Deletion ; Spine - diagnostic imaging ; T-Box Domain Proteins - genetics ; Vertebra ; Vertebrae
É parte de: The New England journal of medicine, 2015-01, Vol.372 (4), p.341-350
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Dr. N. Wu, Mr. X. Ming, Dr. J. Xiao, Dr. Z. Wu, and Dr. X. Chen contributed equally to this article.
Descrição: Little is known about the causes of scoliosis. The authors found that mutant TBX6, a transcription factor, caused congenital scoliosis in approximately 10% of the affected Han Chinese persons evaluated. It is also a cause of scoliosis in persons of other ancestries. Congenital scoliosis, a form of vertebral malformation, has an estimated prevalence of approximately 1 in 2000 live births. 1 It is manifested as a lateral curvature of the spine exceeding 10 degrees and results from defects in vertebra formation during embryogenesis. 2 , 3 Previous evidence in animal models suggested that genetic factors contribute to vertebral malformations. 3 , 4 Genetic mutations have been implicated in human congenital scoliosis, but their low penetrance highlights the complex molecular basis of the disorder and hinders molecular diagnosis of and genetic counseling for congenital scoliosis. 4 , 5 The proximal 16p11.2 deletion in humans is rare but recurrent, with a . . .
Editor: United States: Massachusetts Medical Society
Idioma: Inglês

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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

United States: Massachusetts Medical Society

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