Consulta: creatorFacets:"James L. Mills"
Registros recuperados: 1
Data/hora: 13/06/2024 11:04:22

Adverse Effects of Trichothiodystrophy DNA Repair and Transcription Gene Abnormalities on Human Fetal Development
Provedor de dados: 17
Autores: Roxana  Moslehi; Caroline Signore; James Troendle; Amiran Dzutsev; James L. Mills.
The effects of DNA repair and transcription genes in human prenatal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10^-6^) recessive disorder caused by mutations in genes involved in the nucleotide excision repair (NER) pathway and in transcription. Based on our clinical observations, we conducted a genetic epidemiologic study to investigate gestational outcomes associated with TTD. We compared pregnancies resulting in TTD-affected offspring (N=24) with respect to abnormalities in their antenatal and neonatal periods to pregnancies resulting in their unaffected siblings (N=18), accounting for correlation, and to population reference values. Significantly higher incidence of several severe gestational complications...
Tipo: Poster
Palavras-chave: Developmental Biology; Genetics &amp; Genomics.
Ano: 2009
URL: http://precedings.nature.com/documents/3582/version/1