Insights into retinoic acid deficiency and the induction of craniofacial malformations and microcephaly in fetal alcohol spectrum disorder
Sign Up to like & getrecommendations! Published in 2019 at "genesis"
DOI: 10.1002/dvg.23278
Abstract: Fetal Alcohol Spectrum Disorder (FASD) is a set of neurodevelopmental malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel facial features are unique to the disorder, and microcephaly is common in severe forms… read more here.
Keywords: craniofacial malformations; acid deficiency; retinoic acid; deficiency ... See more keywords
MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Scientific reports"
DOI: 10.1038/s41598-021-83771-3
Abstract: Circumferential skin creases (CSC-KT) is a rare polymalformative syndrome characterised by intellectual disability associated with skin creases on the limbs, and very characteristic craniofacial malformations. Previously, heterozygous and homozygous mutations in MAPRE2 were found to… read more here.
Keywords: mapre2; crest migration; neural crest; cranial neural ... See more keywords
Treatment of infants with craniofacial malformations
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-317890
Abstract: Infants with craniofacial malformations (CFMs) are at increased risk of various clinical problems, including respiratory and feeding disorders, the result of which may be long-lasting. An improvement in clinical care can be achieved by prenatal… read more here.
Keywords: craniofacial malformations; treatment infants; infants craniofacial;
Dose Addition in the Induction of Craniofacial Malformations in Zebrafish Embryos Exposed to a Complex Mixture of Food-Relevant Chemicals with Dissimilar Modes of Action
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DOI: 10.1289/ehp9888
Abstract: Background: Humans are exposed to combinations of chemicals. In cumulative risk assessment (CRA), regulatory bodies such as the European Food Safety Authority consider dose addition as a default and sufficiently conservative approach. The principle of… read more here.
Keywords: craniofacial malformations; food; mixture; malformations zebrafish ... See more keywords
Targeting fibroblast growth factor receptors causes severe craniofacial malformations in zebrafish larvae
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DOI: 10.7717/peerj.14338
Abstract: Background and Objective A key pathway controlling skeletal development is fibroblast growth factor (FGF) and FGF receptor (FGFR) signaling. Major regulatory functions of FGF signaling are chondrogenesis, endochondral and intramembranous bone development. In this study… read more here.
Keywords: craniofacial malformations; zebrafish larvae; fibroblast growth; severe craniofacial ... See more keywords