Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
Adolescent
Adult
Amino Acid Sequence
Animals
Anti-Mullerian Hormone
/ genetics
Axons
/ metabolism
Bone Morphogenetic Protein Receptors, Type I
/ metabolism
COS Cells
Cell Movement
Chlorocebus aethiops
Female
Fertility
Fetus
/ metabolism
Gonadotropin-Releasing Hormone
/ metabolism
Heterozygote
Humans
Hypogonadism
/ metabolism
Loss of Function Mutation
Luteinizing Hormone
/ metabolism
Male
Mice, Inbred C57BL
Neurons
/ metabolism
Olfactory Bulb
/ metabolism
Pedigree
Receptors, Transforming Growth Factor beta
/ deficiency
Signal Transduction
Young Adult
AMH
GnRH
Kallmann's syndrome
cell migration
developmental biology
genetics
genomics
human
mouse
reproduction
Journal
eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614
Informations de publication
Date de publication:
10 07 2019
10 07 2019
Historique:
received:
27
03
2019
accepted:
28
06
2019
entrez:
11
7
2019
pubmed:
11
7
2019
medline:
23
2
2020
Statut:
epublish
Résumé
Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). We identified loss-of-function heterozygous mutations in anti-Müllerian hormone (
Identifiants
pubmed: 31291191
doi: 10.7554/eLife.47198
pii: 47198
pmc: PMC6620045
doi:
pii:
Substances chimiques
Amhr2 protein, mouse
0
Receptors, Transforming Growth Factor beta
0
Gonadotropin-Releasing Hormone
33515-09-2
Anti-Mullerian Hormone
80497-65-0
Luteinizing Hormone
9002-67-9
Bone Morphogenetic Protein Receptors, Type I
EC 2.7.11.30
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Agence Nationale de la Recherche
ID : ANR-14-CE12-0015-01
Pays : International
Organisme : Horizon 2020 Framework Programme
ID : ERC-2016-CoG 725149
Pays : International
Organisme : Ministerio de Ciencia e Innovación
ID : CTQ2017-87889-P
Pays : International
Organisme : Ministerio de Ciencia e Innovación
ID : CTQ2017-83745-P
Pays : International
Organisme : Horizon 2020 Framework Programme
ID : H2020-MSCA-IF-2017
Pays : International
Organisme : Generalitat de Catalunya
ID : 2017SGR1323
Pays : International
Informations de copyright
© 2019, Malone et al.
Déclaration de conflit d'intérêts
SM, GP, AM, NM, ST, MI, CA, IC, JA, DC, CX, RQ, GS, PP, LA, LM, JM, VP, NP, PG No competing interests declared
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