Results 71 to 80 of about 9,343 (179)

Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects

Epigenetics & Chromatin, 2019
Background Neural tube defects (NTDs) are severe, common birth defects that result from failure of normal neural tube closure during early embryogenesis. Accumulating strong evidence indicates that genetic factors contribute to NTDs etiology, among them, 
Juan Yu, Lei Wang, Pei Pei, Xue Li, Jianxin Wu, Zhiyong Qiu, Juan Zhang, Ruifang Ao, Shan Wang, Ting Zhang, Jun Xie   +10 more
doaj   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +1 more source

Epigenomic Landscapes of hESC-Derived Neural Rosettes: Modeling Neural Tube Formation and Diseases

Cell Reports, 2017
We currently lack a comprehensive understanding of the mechanisms underlying neural tube formation and their contributions to neural tube defects (NTDs).
Cristina Valensisi, Colin Andrus, Sam Buckberry, Naresh Doni Jayavelu, Riikka J. Lund, Ryan Lister, R. David Hawkins   +6 more
doaj   +1 more source

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure

Disease Models & Mechanisms, 2016
Genetic variations affecting neural tube closure along the head result in malformations of the face and brain. Neural tube defects (NTDs) are among the most common birth defects in humans.
Keith S. K. Fong, Robert B. Hufnagel, Vedbar S. Khadka, Michael J. Corley, Alika K. Maunakea, Ben Fogelgren, Zubair M. Ahmed, Scott Lozanoff   +7 more
doaj   +1 more source

Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

Taiwanese Journal of Obstetrics & Gynecology, 2008
Prenatal screening with α-fetoprotein (AFP) and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs) in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern ...
Chih-Ping Chen
doaj   +1 more source

Maternal factors for neural tube defects in offspring: An umbrella review

Open Medicine
We conducted an umbrella review focusing on maternal risk factors during pregnancy associated with neural tube defects (NTDs).
Arabzadeh Hoda, Jenabi Ensiyeh, Masoumi Seyedeh Zahra   +2 more
doaj   +1 more source

Excessive DNA Double‐Strand Breaks–Associated 3D Genome Reorganization Contributes to Neural Tube Defects with Folate Deficiency

Advanced Science
Neural tube defects (NTDs) are one of the most common congenital malformations. Folic acid deficiency in pregnant women increases the risk of developing NTDs; however, the underlying etiology and mechanisms remain elusive.
Ting Zhang, Lin Lin, Jianting Li, Caihua Li, Shengjun Liang, Xuemei Bai, Fang Wang, Yihua Bao, Dan Guo, Xiaochen Bo, Hao Li, Hebing Chen, Qiu Xie   +12 more
doaj   +1 more source

SNRI (Venlafaxine) induces Neural Tube Defects (NTDs) in Developing Chick Embryos

Journal of Drug Delivery and Therapeutics
This research investigates the teratogenicity of SNRI (Venlafaxine) on neural tube formation in Gallus gallus domesticus (chick embryos). Fertilized eggs were exposed to two levels of Venlafaxine (500 ppm and 1000 ppm), and embryonic results were evaluated after 24 hours of incubation.
Gaurang Anil Joshi, Tejas Mahesh Sabnis, Pradeep Chaudhary   +2 more
openaire   +1 more source

PCSK9 Loss‐of‐Function Disrupts Cellular Microfilament Network via LIN28A/HES5/JMY Axis in Neural Tube Defects

Advanced Science
Neural tube defects (NTDs) are complex multigenic disorders and are the most prevalent and severe congenital malformations that affect the central nervous system.
Xiaoshuai Li, Rui Wang, Wenting Luo, Hui Gu, Tianchu Huang, Qiushi Wang, Zhengwei Yuan   +6 more
doaj   +1 more source

Folate Deficiency and Prevalence of Neural Tube Defects [NTDs] in Georgia [PDF]

International Journal of Clinical Nutrition & Dietetics, 2019
Robizon Tsiklauri, P. Imnadze, L. Jijeishvili, J. Saganelidze   +3 more
openaire   +1 more source