نتایج جستجو برای: neural tube defects ntds

تعداد نتایج: 490075  

Journal: :Genes & development 2002
Lydie Pani Melissa Horal Mary R Loeken

Pax-3 is a transcription factor that is expressed in the neural tube, neural crest, and dermomyotome. We previously showed that apoptosis is associated with neural tube defects (NTDs) in Pax-3-deficient Splotch (Sp/Sp) embryos. Here we show that p53 deficiency, caused by germ-line mutation or by pifithrin-alpha, an inhibitor of p53-dependent apoptosis, rescues not only apoptosis, but also NTDs,...

Journal: :Human molecular genetics 2008
Rebecca Lee Yean Wong Bogdan J Wlodarczyk Kyung Soo Min Melissa L Scott Susan Kartiko Wei Yu Michelle Y Merriweather Peter Vogel Brian P Zambrowicz Richard H Finnell

Neural tube defects (NTDs) are birth defects that can be disabling or lethal and are second in their prevalence after cardiac defects among major human congenital malformations. Spina bifida is a NTD where the spinal cord is dysplastic, and the overlying spinal column is absent. At present, the molecular mechanisms underlying the spinal bifida development are largely unknown. In this study, we ...

Journal: :Frontiers of medicine 2014
Chunquan Cai Ouyan Shi

Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during ...

Journal: :iranian journal of veterinary research 2012
m. zirak javanmard r. sadrkhanlou s. hasanzadeh j. m. kaul

arsenic is an important environmental toxicant which is usually found in drinking water in inorganic form. the hypothesis tested in this investigation is; arsenic exposure causes neural tube defects (ntds) andthese defects of the central nervous system are more likely related to folate deficiency during fetal life. in this study, sodium arsenate was administered via intraperitoneal route at a r...

Journal: :Fetal diagnosis and therapy 2010
Dhara B Dhaulakhandi Seema Rohilla Kamal Nain Rattan

The failure of closure of the neural tube during development leads to malformations called neural tube defects (NTDs). The most common neural malformations in humans include anencephaly, encephalocele, exencephaly, craniorachischisis spina bifida with or without myelomeningocele, lipomyeloschisis, lipomyelomeningocele, meningocele and myelocystocele. Current preventive strategies are mainly bas...

2010

The failure of closure of the neural tube during development leads to malformations called neural tube defects (NTDs). The most common neural malformations in humans include anencephaly, encephalocele, exencephaly, craniorachischisis spina bifida with or without myelomeningocele, lipomyeloschisis, lipomyelomeningocele, meningocele and myelocystocele. Current preventive strategies are mainly bas...

Journal: :Biomedical and environmental sciences : BES 2009
Gong Chen Li-Jun Pei Jian Huang Xin-Ming Song Liang-Ming Lin Xue Gu Jian-Xin Wu Fang Wang Ji-Lei Wu Jia-Peng Chen Ju-Fen Liu Ruo-Lei Xin Ting Zhang Xiao-Ying Zheng

OBJECTIVE To study the prevalence of different types of neural tube defects (NTDs) in Luliang Prefecture, Shanxi province, where the prevalence of NTDs is unusually high and the correlation between NTDs prevalence and patterns. METHODS A surveillance population-based birth defects was performed in Luliang Prefecture, Shanxi province. RESULTS The results of our study showed that the prevalen...

2010

The failure of closure of the neural tube during development leads to malformations called neural tube defects (NTDs). The most common neural malformations in humans include anencephaly, encephalocele, exencephaly, craniorachischisis spina bifida with or without myelomeningocele, lipomyeloschisis, lipomyelomeningocele, meningocele and myelocystocele. Current preventive strategies are mainly bas...

2012
Ayumi Narisawa Shoko Komatsuzaki Atsuo Kikuchi Tetsuya Niihori Yoko Aoki Kazuko Fujiwara Mitsuyo Tanemura Akira Hata Yoichi Suzuki Caroline L. Relton James Grinham Kit-Yi Leung Darren Partridge Alexis Robinson Victoria Stone Peter Gustavsson Philip Stanier Andrew J. Copp Nicholas D.E. Greene Teiji Tominaga Yoichi Matsubara Shigeo Kure

Neural tube defects (NTDs), including spina bifida and anencephaly, are common birth defects of the central nervous system. The complex multigenic causation of human NTDs, together with the large number of possible candidate genes, has hampered efforts to delineate their molecular basis. Function of folate one-carbon metabolism (FOCM) has been implicated as a key determinant of susceptibility t...

Journal: :Human molecular genetics 2013
Alexander G Bassuk Lakshmi B Muthuswamy Riley Boland Tiffany L Smith Alissa M Hulstrand Hope Northrup Matthew Hakeman Jason M Dierdorff Christina K Yung Abby Long Rachel B Brouillette Kit Sing Au Christina Gurnett Douglas W Houston Robert A Cornell J Robert Manak

Neural tube defects (NTDs) are common birth defects of complex etiology. Family and population-based studies have confirmed a genetic component to NTDs. However, despite more than three decades of research, the genes involved in human NTDs remain largely unknown. We tested the hypothesis that rare copy number variants (CNVs), especially de novo germline CNVs, are a significant risk factor for N...

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