A potential functional association between mutant BMPR2 and primary ovarian insufficiency

Primary ovarian insufficiency (POI) affects ~1% of women in the general population. Despite numerous attempts at identifying POI genetic aetiology, coding mutations in only a few genes have been functionally related to POI pathogenesis. It has been suggested that mutant BMPR2 might contribute toward...

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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:10336/23363
Acceso en línea:
https://doi.org/10.1080/19396368.2017.1291767
https://repository.urosario.edu.co/handle/10336/23363
Palabra clave:
Animal cell
Article
Bmpr2 gene
Endoplasmic reticulum
Gene
Gene mutation
Genetic association
Nonhuman
Ovary function
Premature ovarian failure
Priority journal
Protein aggregation
Pulmonary hypertension
Animal
Cho cell line
Cricetulus
Female
Genetics
Metabolism
Mutation
Premature ovarian failure
Bone morphogenetic protein receptor 2
Animals
Cho cells
Cricetulus
Endoplasmic reticulum
Female
Mutation
Primary ovarian insufficiency
Bmpr2
Primary ovarian insufficiency (poi)
Protein-like aggregation
type ii
Bone morphogenetic protein receptors
Rights
License
Abierto (Texto Completo)