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Molecular Genetics of Premature Ovarian Insufficiency
- Source :
- Trends in Endocrinology & Metabolism. 29:795-807
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet identifying causative genes has been challenging with candidate gene approaches. Recent approaches using next generation sequencing (NGS), especially whole exome sequencing (WES), in large POI pedigrees have identified new causatives and proposed relevant candidates, mainly enriched in DNA damage repair, homologous recombination, and meiosis. In the near future, NGS or whole genome sequencing will help better define genes involved in intricate regulatory networks. The research into miRNA and age at menopause represents an emerging field that will help unveil the molecular mechanisms underlying pathogenesis of POI. Shedding light on the genetic architecture is important in interpreting pathogenesis of POI, and will facilitate risk prediction for POI.
- Subjects :
- 0301 basic medicine
Whole genome sequencing
medicine.medical_specialty
Candidate gene
Endocrinology, Diabetes and Metabolism
High-Throughput Nucleotide Sequencing
Genomics
Computational biology
Primary Ovarian Insufficiency
Biology
Premature ovarian insufficiency
DNA sequencing
MicroRNAs
03 medical and health sciences
030104 developmental biology
Endocrinology
Molecular genetics
Exome Sequencing
medicine
Humans
Medical genetics
Female
Menopause
Exome sequencing
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 10432760
- Volume :
- 29
- Database :
- OpenAIRE
- Journal :
- Trends in Endocrinology & Metabolism
- Accession number :
- edsair.doi.dedup.....0393bf5a3030a2d22fa098b9612b9998