Results 51 to 60 of about 12,096 (222)

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

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

Cells, 2019
Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most severe and common malformations of the central nervous system affecting 0.7−3 per 1000 live births.
Mingqin Wang, Patrizia de Marco, Valeria Capra, Zoha Kibar   +3 more
doaj   +1 more source

Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs) [PDF]

European Journal of Human Genetics, 2002
Neural tube defects (NTD) are among the most common congenital malformations in humans. The current view is that there are no major genes causing NTDs, but combinations of sequence variants in different genes have additive effects on determining the malformation. Therefore it is important to identify such sequence variants to get a better understanding
Bärbel, Felder, Karolin, Stegmann, Almut, Schultealbert, Frank, Geller, Elisabeth, Strehl, August, Ermert, Manuela C, Koch   +6 more
openaire   +2 more sources

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

From exencephaly to anencephaly: a catastrophic continuum of neural tube defects from embryogenesis to ultrasonographic diagnosis

Journal of Perinatal Medicine
Neural tube defects (NTDs) are severe congenital anomalies arising from incomplete closure of the neural tube during early embryogenesis. Among cranial NTDs, exencephaly, acrania, and anencephaly represent a progressive developmental continuum, leading ...
Andonotopo Wiku, Bachnas Muhammad Adrianes, Dewantiningrum Julian, Pramono Mochammad Besari Adi, Sulistyowati Sri, Stanojevic Milan, Kurjak Asim   +6 more
doaj   +1 more source

Folate-related gene variants in Irish families affected by neural tube defects

Frontiers in Genetics, 2013
Periconceptional folic acid use can often prevent neural tube defects (NTDs). Variants of genes involved in folate metabolism in mothers and children have been associated with occurrence of NTDs. We identified Irish families with individuals affected by
Ridgely eFisk Green, Julianne eByrne, Krista S. Crider, Margaret eGallagher, Deborah eKoontz, Robert J. Berry   +5 more
doaj   +1 more source

Global analysis of cell behavior and protein dynamics reveals region-specific roles for Shroom3 and N-cadherin during neural tube closure

eLife, 2022
Failures of neural tube closure are common and serious birth defects, yet we have a poor understanding of the interaction of genetics and cell biology during neural tube closure.
Austin T Baldwin, Juliana H Kim, Hyemin Seo, John B Wallingford   +3 more
doaj   +1 more source

Neural tube closure: cellular, molecular and biomechanical mechanisms. [PDF]

, 2017
Neural tube closure has been studied for many decades, across a range of vertebrates, as a paradigm of embryonic morphogenesis. Neurulation is of particular interest in view of the severe congenital malformations - 'neural tube defects' - that result ...
Copp, AJ, Galea, GL, Greene, ND, Nikolopoulou, E, Rolo, A   +4 more
core   +2 more sources

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source