The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

Resultado de la investigación: Contribución a RevistaArtículo de revisión

6 Citas (Scopus)

Resumen

Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI. The main genes participating in bipotential gonad formation, sex determination, meiosis, folliculogenesis and ovulation are described to enable understanding how they may be considered putative candidates involved in POI. Considerations regarding NGS technical aspects such as design and data interpretation are mentioned. Successful NGS initiatives used for POI studying and future challenges are also discussed.

Idioma originalEnglish (US)
Páginas (desde-hasta)170-180
Número de páginas11
PublicaciónMolecular and Cellular Endocrinology
Volumen460
DOI
EstadoPublished - ene 15 2018

Huella dactilar

Primary Ovarian Insufficiency
High-Throughput Nucleotide Sequencing
Genes
Pathology
Molecules
Mutation
Meiosis
Gonads
Ovulation
Infertility

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Endocrinology

Citar esto

@article{d3ef2e1b7a0c4ac7838659a3b1aa8198,
title = "The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing",
abstract = "Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI. The main genes participating in bipotential gonad formation, sex determination, meiosis, folliculogenesis and ovulation are described to enable understanding how they may be considered putative candidates involved in POI. Considerations regarding NGS technical aspects such as design and data interpretation are mentioned. Successful NGS initiatives used for POI studying and future challenges are also discussed.",
author = "Paul Laissue",
year = "2018",
month = "1",
day = "15",
doi = "10.1016/j.mce.2017.07.021",
language = "English (US)",
volume = "460",
pages = "170--180",
journal = "Molecular and Cellular Endocrinology",
issn = "0303-7207",
publisher = "Elsevier Ireland Ltd",

}

The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing. / Laissue, Paul.

En: Molecular and Cellular Endocrinology, Vol. 460, 15.01.2018, p. 170-180.

Resultado de la investigación: Contribución a RevistaArtículo de revisión

TY - JOUR

T1 - The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing

AU - Laissue, Paul

PY - 2018/1/15

Y1 - 2018/1/15

N2 - Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI. The main genes participating in bipotential gonad formation, sex determination, meiosis, folliculogenesis and ovulation are described to enable understanding how they may be considered putative candidates involved in POI. Considerations regarding NGS technical aspects such as design and data interpretation are mentioned. Successful NGS initiatives used for POI studying and future challenges are also discussed.

AB - Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI. The main genes participating in bipotential gonad formation, sex determination, meiosis, folliculogenesis and ovulation are described to enable understanding how they may be considered putative candidates involved in POI. Considerations regarding NGS technical aspects such as design and data interpretation are mentioned. Successful NGS initiatives used for POI studying and future challenges are also discussed.

UR - http://www.scopus.com/inward/record.url?scp=85025838278&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85025838278&partnerID=8YFLogxK

U2 - 10.1016/j.mce.2017.07.021

DO - 10.1016/j.mce.2017.07.021

M3 - Review article

VL - 460

SP - 170

EP - 180

JO - Molecular and Cellular Endocrinology

JF - Molecular and Cellular Endocrinology

SN - 0303-7207

ER -