Association between historically high frequencies of neural tube defects and the humanT homologue of mouseT (Brachyury)

Shields, Denis C.; Ramsbottom, Dorothy; Donoghue, Cait; Pinjon, Emmanuelle; Kirke, Peadar N.; Molloy, Anne M.; Edwards, Yvonne H.; Mills, James L.; Mynett-Johnson, Lesley; Weir, Donald G.; Scott, John M.; Whitehead, Alexander S.

doi:10.1002/(sici)1096-8628(20000529)92:3<206::aid-ajmg9>3.0.co;2-w

Cited by 30 publications

(4 citation statements)

References 26 publications

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“…A variant in the T gene (TIVS 7 -2) has been reported to be associated with neural tube defects (Morrison et al, 1996, Shields et al, 2000, Jensen et al, 2004). …”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction

Nielsen

Ji²,

Yuferov³

et al. 2010

Psychiatric Genetics

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Objectives We have used genome-wide association studies to identify variants that are associated with vulnerability to develop heroin addiction. Methods DNA from 325 methadone stabilized, former severe heroin addicts and 250 control subjects were pooled by ethnicity (Caucasian and African American) and analyzed using the Affymetrix GeneChip Mapping 100K Set. Genome-wide association tests were conducted. Results The strongest association with vulnerability to develop heroin addiction, with experiment-wise significance (P = 0.035), was found in Caucasians with the variant rs10494334, a variant in an unannotated region of the genome (1q23.3). In African Americans, the variant most significantly associated with heroin addiction vulnerability was rs950302, found in the cytosolic dual specificity phosphatase 27 gene DUSP27 (point-wise P = 0.0079). Furthermore, analysis of the top 500 variants with the most significant associations (point-wise P ≤ 0.0036) in Caucasians showed that three of these variants are clustered in the regulating synaptic membrane exocytosis protein 2 gene RIMS2. Of the top 500 variants in African Americans (point-wise P ≤ 0.0238), three variants are in the cardiomyopathy associated 3 gene CMYA3. Conclusions This study identifies new genes and variants that may increase an individual’s vulnerability to develop heroin addiction.

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“…A variant in the T gene (TIVS 7 -2) has been reported to be associated with neural tube defects (Morrison et al, 1996, Shields et al, 2000, Jensen et al, 2004). …”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction

Nielsen

Ji²,

Yuferov³

et al. 2010

Psychiatric Genetics

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show abstract

“…Finally, researchers have identified a pathogenic variant in the TBXT gene, TIVS7-2, in individuals suffering from meningomyelocele. The variant has been concomitantly correlated with elevated predisposition to SB [ 117 ]. Numerous studies have also identified other risk-candidate genes such as AMOT , ARHGAP36 , CELSR1 , COL15A1 , DACT1 , DISP2 , DLC1 , DTX1 , FREM2 , FZD6 , GPR50 , GRHL3 , ITGB1 , MTHFR , MYO1E , NKRF , PAX3 , PRICKLE1 , PTK7 , RXRγ , SCRIB , SHROOM3 , and TKTL1 [ 118 – 126 ].…”

Section: The Role Of Environmental Factors and Epigenetics In Congeni...mentioning

confidence: 99%

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

Szoszkiewicz,

Bukowska-Olech,

Jamsheer

2024

Orphanet J Rare Dis

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Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel–Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited. Furthermore, there is a lack of resource that consolidates the current knowledge in this field. In this pioneering review, we provide a comprehensive analysis of the latest research on the molecular basis of VMs and the association of the VMs-related causative genes with bone developmental signaling pathways. Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column. Overall, the review summarizes the current knowledge on VM genetics, and provides new insights into potential involvement of biological pathways in VM pathogenesis. We also present an overview of available data regarding the role of epigenetic and environmental factors in VMs. We identify areas where knowledge is lacking, such as precise molecular mechanisms in which specific genes contribute to the development of VMs. Finally, we propose future research avenues that could address knowledge gaps.

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“…TBXT is encoded by the T gene and is vital for the formation and differentiation of posterior mesoderm and axial development in vertebrates. Although further studies showed that the mutant TIVS7-2 is associated with an increased risk of SB, the pathogenic mechanism remains unclear [ 46 , 47 ].…”

Section: Geneticsmentioning

confidence: 99%

Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies

Hassan

Lee

et al. 2022

JDB

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Spina bifida is the most common congenital defect of the central nervous system which can portend lifelong disability to those afflicted. While the complete underpinnings of this disease are yet to be fully understood, there have been great advances in the genetic and molecular underpinnings of this disease. Moreover, the treatment for spina bifida has made great advancements, from surgical closure of the defect after birth to the now state-of-the-art intrauterine repair. This review will touch upon the genetics, embryology, and pathophysiology and conclude with a discussion on current therapy, as well as the first FDA-approved clinical trial utilizing stem cells as treatment for spina bifida.

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Association between historically high frequencies of neural tube defects and the humanT homologue of mouseT (Brachyury)

Cited by 30 publications

References 26 publications

Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction

Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies

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