New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

STUDY QUESTION Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER WES is an efficient tool to study genetic causes of POI as we have identified new mutations, some of which lead to pr...

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Autores:

Tipo de recurso:

Fecha de publicación:

2017

Institución:

Universidad del Rosario

Repositorio:

Repositorio EdocUR - U. Rosario

Idioma:

eng

OAI Identifier:

oai:repository.urosario.edu.co:10336/24231

Acceso en línea:

https://doi.org/10.1093/humrep/dex089
https://repository.urosario.edu.co/handle/10336/24231

Palabra clave:

Estradiol
Follitropin
Luteinizing hormone
Bone morphogenetic protein receptor 1
Signal peptide
Adolescent
Adult
Article
Bioinformatics
Bmpr1b gene
Cell differentiation
Cell proliferation
Cohort analysis
Female
Frameshift mutation
Gene
Gene frequency
Gene locus
Gene mapping
Gene mutation
Genetic variability
Granulosa cell
Grem1 gene
Human
Major clinical study
Meiosis
Missense mutation
Nonsense mutation
Ovary follicle development
Ovary insufficiency
Ovulation
Retrospective study
Whole exome sequencing
Young adult
Amino acid substitution
Biology
Chemistry
Clinical trial
Expert system
France
Genetic predisposition
Genetics
Genome-wide association study
Metabolism
Molecular dynamics
Molecular model
Multicenter study
Mutation
Patient referral
Premature ovarian failure
Protein stability
Single nucleotide polymorphism
Whole exome sequencing
Adult
Amino acid substitution
Cohort studies
Computational biology
Expert systems
Female
France
Genetic predisposition to disease
Genome-wide association study
Humans
Intercellular signaling peptides and proteins
Molecular dynamics simulation
Mutation
Primary ovarian insufficiency
Protein stability
Referral and consultation
Retrospective studies
Whole exome sequencing
Young adult
Female infertility
Molecular etiology
Polygenic disease
Primary ovarian insufficiency
Whole-exome sequencing
type i
single nucleotide
molecular
human
human
Bmpr1b protein
Grem1 protein
Bone morphogenetic protein receptors
Models
Polymorphism

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