Results 41 to 50 of about 131,684 (338)

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice. [PDF]

, 2015
Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism. GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH).
Brosnan, JT, Brosnan, ME, Copp, AJ, Greene, ND, Heales, S, Hutchin, T, Leung, KY, Pai, YJ, Prunty, H, Savery, D   +9 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
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

NEURAL TUBE DEFECTS AMONG INFANTS DELIVERED OF MOTHERS WITH TOBACCO SMOKE EXPOSURE [PDF]

The Medical Journal of Basrah University, 2007
Objective: to verify the occurrence of congenital neural tube anomalies among the newborns of pregnant women who had experienced exposure to tobacco smoke.
Abdul-Kareem A. Mahmood
doaj   +1 more source

BMI‐1 modulation and trafficking during M phase in diffuse intrinsic pontine glioma

FEBS Open Bio, EarlyView.
The schematic illustrates BMI‐1 phosphorylation during M phase, which triggers its translocation from the nucleus to the cytoplasm. In cycling cells, BMI‐1 functions within the PRC1 complex to mediate H2A K119 monoubiquitination. Following PTC596‐induced M phase arrest, phosphorylated BMI‐1 dissociates from PRC1 and is exported to the cytoplasm via its
Banlanjo Umaru, Deepak Kumar Mishra, Shiva Senthil Kumar, Hao‐Han Pang, Brendan Devine, Komal Khan, Rachid Drissi   +6 more
wiley   +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

Factors Associated With Neural Tube Defects Among Newborns Delivered at Debre Berhan Specialized Hospital, North Eastern Ethiopia, 2021. Case-Control Study

Frontiers in Pediatrics, 2022
BackgroundNeural tube defects are severe congenital malformations secondary to an abnormal closure of the neural tube between third and fourth weeks of gestational ages.
Getaneh Baye Mulu, Bantalem Tilaye Atinafu, Fetene Nigussie Tarekegn, Tigist Demssew Adane, Mesfin Tadese, Abate Dargie Wubetu, Worku Misganaw Kebede   +6 more
doaj   +1 more source

Improper Supplementation Habits of Folic Acid Intake by Hungarian Pregnant Women: Improper Recommendations [PDF]

, 2008
Background: Neural tube defects (NTDs) are some of the most common congenital anomalies. Proper folic acid supplementation is a dominant risk factor, which has been shown to decrease the incidence of NTDs.
Bognár, M., Constantin, Tamás, Garami, Miklós, Hauser, Péter, Jakab, Zsuzsanna, Müller, Judit, Ponyi, Andrea, Schuler, Dezső   +7 more
core   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

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