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Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies.

作者信息

Koshy Teena, Venkatesan Vettriselvi, Gowrishankar Kalpana, Perumal Venkatachalam, Mohan Shruthi, Paul Solomon Franklin Durairaj

机构信息

Department of Human Genetics, Sri Ramachandra University, Porur, Chennai, 600 116, India.

Department of Medical Genetics, Childs Trust Medical Research Foundation, Nungambakkam, Chennai, India.

出版信息

Indian J Pediatr. 2016 Aug;83(8):879. doi: 10.1007/s12098-015-1953-6. Epub 2015 Dec 4.

DOI:10.1007/s12098-015-1953-6
PMID:26634261
Abstract
摘要

相似文献

1
Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies.圆锥动脉干心脏畸形患儿中TBX1的突变分析
Indian J Pediatr. 2016 Aug;83(8):879. doi: 10.1007/s12098-015-1953-6. Epub 2015 Dec 4.
2
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.非综合征性圆锥动脉干缺损的DiGeorge亚型:反对TBX1基因起主要作用的证据
Eur J Hum Genet. 2003 Apr;11(4):349-51. doi: 10.1038/sj.ejhg.5200956.
3
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.在患有综合征型先天性心脏缺陷的患者中发现了一个新的 TBX1 错义突变。
Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28.
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Tbx1, subpulmonary myocardium and conotruncal congenital heart defects.Tbx1、肺下心肌与圆锥动脉干先天性心脏缺陷
Birth Defects Res A Clin Mol Teratol. 2011 Jun;91(6):477-84. doi: 10.1002/bdra.20803. Epub 2011 May 17.
5
A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.一种与先天性心脏病相关的新型TBX1功能丧失突变
Pediatr Cardiol. 2015 Oct;36(7):1400-10. doi: 10.1007/s00246-015-1173-x. Epub 2015 Apr 10.
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Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.22q11.2缺失患者中剩余TBX1基因的变异和单倍型与先天性心脏缺陷表现之间的关联评估。
J Med Genet. 2004 Apr;41(4):e40. doi: 10.1136/jmg.2003.010975.
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A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.TBX1 中的 3 个碱基对缺失导致蛋白表达和转录活性降低。
Sci Rep. 2017 Mar 8;7:44165. doi: 10.1038/srep44165.
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ENU induced mutations causing congenital cardiovascular anomalies.ENU诱导的导致先天性心血管异常的突变。
Development. 2004 Dec;131(24):6211-23. doi: 10.1242/dev.01543. Epub 2004 Nov 17.
9
Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.在22q11微缺失病例中,单倍体TBX1基因座的等位基因变异不影响心脏表型。
Ann Genet. 2004 Jul-Sep;47(3):235-40. doi: 10.1016/j.anngen.2004.04.002.
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Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.荧光原位杂交检测22q11.2缺失为阴性的圆锥动脉干心脏缺陷胎儿中涉及TBX1基因的微缺失/微重复。
Ultrasound Obstet Gynecol. 2014 Apr;43(4):396-403. doi: 10.1002/uog.12550. Epub 2013 Dec 26.

本文引用的文献

1
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.新型TBX1功能丧失突变导致无22q11.2缺失的中国患者出现孤立性圆锥动脉干心脏缺陷。
BMC Med Genet. 2014 Jul 6;15:78. doi: 10.1186/1471-2350-15-78.
2
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.非综合征性法洛四联症中 TBX1 变异的系统调查确定了一种新型的 57 个碱基对缺失,该缺失降低了转录活性,但未发现与常见变异体相关联的证据。
Heart. 2010 Oct;96(20):1651-5. doi: 10.1136/hrt.2010.200121.
3
TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.
非综合征性法洛四联症患者的TBX1基因突变筛查
Turk J Pediatr. 2007 Jan-Mar;49(1):61-8.
4
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.非综合征性圆锥动脉干缺损的DiGeorge亚型:反对TBX1基因起主要作用的证据
Eur J Hum Genet. 2003 Apr;11(4):349-51. doi: 10.1038/sj.ejhg.5200956.
5
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.具有22q11.2缺失综合征/腭心面综合征特征或孤立性心血管缺陷的非缺失患者中TBX1的突变分析。
J Med Genet. 2001 Dec;38(12):E45. doi: 10.1136/jmg.38.12.e45.