Dataciencia

Colección SciELO Chile

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea

Indexado

WoS

WOS:000757534100050

DOI

10.1210/CLINEM/DGAA609

Año

2021

Tipo

artículo de investigación

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras

Abstract

Context: Functional hypothalamic amenorrhea (HA) is a common, acquired form of hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress. Variability in individual susceptibility to these stressors, HA heritability, and previous identification of several rare sequence variants (RSVs) in genes associated with the rare disorder, isolated hypogonadotropic hypogonadism (IHH), in individuals with HA suggest a possible genetic contribution to HA susceptibility.

Revista

Revista	ISSN
Journal Of Clinical Endocrinology & Metabolism	0021-972X

Métricas Externas

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Disciplinas de Investigación

WOS
Endocrinology & Metabolism

Scopus
Endocrinology, Diabetes And Metabolism
Biochemistry
Clinical Biochemistry
Biochemistry (Medical)
Endocrinology

SciELO
Sin Disciplinas

Muestra la distribución de disciplinas para esta publicación.

Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional

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Autores - Afiliación

Ord.	Autor	Género	Institución - País
1	Delaney, Angela	Mujer	NIEHS - Estados Unidos Eunice Kennedy Shriver NICHHD - Estados Unidos
2	Burkholder, Adam B.	Hombre	NIEHS - Estados Unidos
3	Lavender, Christopher A.	-	NIEHS - Estados Unidos
4	Plummer, Lacey	-	MASSACHUSETTS GEN HOSP - Estados Unidos
5	Mericq, Veronica	-	Universidad de Chile - Chile Clínica Las Condes - Chile
6	Merino, Paulina M.	-	Universidad de Chile - Chile
7	Quinton, Richard	Hombre	Newcastle Univ - Reino Unido
8	Lewis, Katie L.	-	NHGRI - Estados Unidos
9	Meader, Brooke N.	-	NIEHS - Estados Unidos Eunice Kennedy Shriver NICHHD - Estados Unidos
10	Albano, Alessandro	-	NIEHS - Estados Unidos Eunice Kennedy Shriver NICHHD - Estados Unidos
11	Shaw, Natalie D.	-	NIEHS - Estados Unidos
12	Welt, Corrine K.	-	Univ Utah - Estados Unidos
13	Martin, Kathryn A.	-	MASSACHUSETTS GEN HOSP - Estados Unidos
14	Seminara, Stephanie	Mujer	MASSACHUSETTS GEN HOSP - Estados Unidos
15	Biesecker, Leslie G.	-	NHGRI - Estados Unidos
16	Bailey-Wilson, Joan E.	Mujer	NHGRI - Estados Unidos
17	Hall, Janet E.	-	NIEHS - Estados Unidos

Muestra la afiliación y género (detectado) para los co-autores de la publicación.

Financiamiento

Fuente
National Heart, Lung, and Blood Institute
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institute of Environmental Health Sciences (NIEHS)
NHGRI
Intramural Research Program of the National Human Genome Research Institute (NHGRI)
Harvard Reproductive Endocrine Sciences Center

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos

Agradecimiento
This work was supported by the intramural programs of the National Institute of Environmental Health Sciences (NIEHS; ZID ES103323-01) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD, ZIAHD008919); as well as the Harvard Reproductive Endocrine Sciences Center (P50 HD028138), (K24 HD01290 to J.E.H.), (R01 HD043341 to S.B.S.); and used the computational resources of the National Institutes of Health (NIH) High-Performance Computing Helix system (http://hpc.nih.gov).L.G.B., K.L.L., and ClinSeq were supported by the Intramural Research Program of the National Human Genome Research Institute (NHGRI). The Yale Center for Mendelian Genomics (NIH M#UM1HG006504-05) is funded by the NHGRI and the National Heart, Lung, and Blood Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.

Agradecimiento

This work was supported by the intramural programs of the National Institute of Environmental Health Sciences (NIEHS; ZID ES103323-01) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD, ZIAHD008919); as well as the Harvard Reproductive Endocrine Sciences Center (P50 HD028138), (K24 HD01290 to J.E.H.), (R01 HD043341 to S.B.S.); and used the computational resources of the National Institutes of Health (NIH) High-Performance Computing Helix system (http://hpc.nih.gov).L.G.B., K.L.L., and ClinSeq were supported by the Intramural Research Program of the National Human Genome Research Institute (NHGRI). The Yale Center for Mendelian Genomics (NIH M#UM1HG006504-05) is funded by the NHGRI and the National Heart, Lung, and Blood Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.