Results 31 to 40 of about 125,113 (289)

Magnetic resonance imaging in the prenatal diagnosis of neural tube defects [PDF]

, 2013
OBJECTIVE: To assess the role of magnetic resonance imaging (MRI) in the prenatal diagnosis of neural tube defects (NTDs). BACKGROUND: NTDs comprise a heterogeneous group of congenital anomalies that derive from the failure of the neural tube to close ...
A. Zugazaga Cortazar, C. Duran Feliubadalo, C. Martín Martinez, L. Serra, M. R. Bella Cueto   +4 more
core   +1 more source

PRICKLE1-related early onset epileptic encephalopathy [PDF]

, 2018
The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated ...
DI NOIA, S, Leuzzi, V, Martinelli, M, Mastrangelo, M, Parrini, E, Tolve, M   +5 more
core   +1 more source

Inositol, neural tube closure and the prevention of neural tube defects [PDF]

, 2016
Susceptibility to neural tube defects (NTDs), such as anencephaly and spina bifida is influenced by genetic and environmental factors including maternal nutrition.
Copp, AJ, Greene, ND, Leung, KY
core   +1 more source

Association of retinoic acid receptor genes with meningomyelocele. [PDF]

, 2010
BACKGROUND: Neural tube defects (NTDs) occur in as many as 0.5-2 per 1000 live births in the United States. One of the most common and severe neural tube defects is meningomyelocele (MM) resulting from failed closure of the caudal end of the neural tube.
Au, Kit Sing, Fletcher, Jack M, Morrison, Alanna C, Northrup, Hope, Ostermaier, Kathryn K, Tran, Phong X, Tyerman, Gayle H   +6 more
core   +1 more source

Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

Cell Reports, 2019
Summary: Neural tube defects (NTDs) are common birth defects in humans and show an unexplained female bias. Female mice lacking the tumor suppressor p53 display NTDs with incomplete penetrance. We found that the combined loss of pro-apoptotic BIM and p53
Alex R.D. Delbridge, Andrew J. Kueh, Francine Ke, Natasha M. Zamudio, Farrah El-Saafin, Natasha Jansz, Gao-Yuan Wang, Megan Iminitoff, Tamara Beck, Sue Haupt, Yifang Hu, Rose E. May, Lachlan Whitehead, Lin Tai, William Chiang, Marco J. Herold, Ygal Haupt, Gordon K. Smyth, Tim Thomas, Marnie E. Blewitt, Andreas Strasser, Anne K. Voss   +21 more
doaj   +1 more source

Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects. [PDF]

, 2014
BackgroundNeural tube defects (NTDs), which are among the most common congenital malformations, are influenced by environmental and genetic factors. Low maternal folate is the strongest known contributing factor, making variants in genes in the folate ...
Abaan, Hatice Ozel, Brody, Lawrence C, Browne, Marilyn L, Caggana, Michele, Kay, Denise M, Kirke, Peadar N, McGrath, Emily C, Mills, James L, Molloy, Anne M, Pangilinan, Faith, Parle-McDermott, Anne, Scott, John M, Shane, Barry, Sutton, Marie, Troendle, James F   +14 more
core   +3 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Serum copper concentration in newborns with neural tube defects in northern Iran; A case control study [PDF]

, 2009
Objective: This study was conducted to determine the eventual association between copper deficiency in newborns with neural tube defects (NTD) in Northern Iran. A high prevalence of neural tube defects has been reported from this region.
Golalipour, M.-J., Keshtkar, A.-A., Mansourian, A.-R.   +2 more
core  

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Tip60- and sirtuin 2-regulated MARCKS acetylation and phosphorylation are required for diabetic embryopathy

Nature Communications, 2019
Neural tube defects can arise from high glucose levels caused by maternal diabetes, and MARCKS is required for neural tube closure. Here, Yang et al. show that acetylation and phosphorylation of MARCKS in hyperglycemic conditions causes mitochondrial and
Penghua Yang, Cheng Xu, E. Albert Reece, Xi Chen, Jianxiang Zhong, Min Zhan, Deborah J. Stumpo, Perry J. Blackshear, Peixin Yang   +8 more
doaj   +1 more source