[Pathogenesis and genetics of neural tube defects].
After congenital heart defects neural tube defects (NTDs) is the second most prevalent congenital malformation among birth defects. The average rate of isolated NTDs is 1.4-2.0 per 1000 live births worldwide. The etiology of isolated (nonsyndromic) NTDs is believed to be the result of a combination of genetic predisposition and environmental factors. Over 80 genes believed to be engaged in the neurulations have been identified during the investigation and research of the mouse models. Despite exhaustive research efforts, now spanning several decades, little is known about the actual genetic mechanisms governing the primary events involved in neural tube closure (NTC).
Witczak
Monika
M
Zakład Biologii i Genetyki Uniwersytetu Medycznego w Lodzi.
Ferenc
Tomasz
T
Wilczyński
Jan
J
D000818:Animals; D002490:Central Nervous System / Q000002:abnormalities* / Q000196:embryology; D047108:Embryonic Development / Q000502:physiology; D005260:Female; D005494:Folic Acid Deficiency / Q000150:complications; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D018811:Maternal Exposure / Q000009:adverse effects; D009436:Neural Tube Defects / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control*; D011247:Pregnancy; D011295:Prenatal Care / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D012307:Risk Factors