Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
about
Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genesNELF is a nuclear protein involved in hypothalamic GnRH neuronal migrationWDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHeparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadismPROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activityA genetic basis for functional hypothalamic amenorrheaNovel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionHuman GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neuronsCell migration in the developing rodent olfactory systemCongenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and FutureThe genetic basis of female reproductive disorders: etiology and clinical testingNeural crest and olfactory system: new prospectiveExploring mechanisms of FGF signalling through the lens of structural biologyGenetic insights into the mechanisms of Fgf signalingThe Regulation and Function of Fibroblast Growth Factor 8 and Its Function during Gonadotropin-Releasing Hormone Neuron DevelopmentReceptor tyrosine kinase signaling: regulating neural crest development one phosphate at a timeMolecular mechanisms of fibroblast growth factor signaling in physiology and pathologyThe role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutationsExpanding the phenotype and genotype of female GnRH deficiencyCommentary: the year in endocrine genetics for basic scientistsNELF knockout is associated with impaired pubertal development and subfertility.Sirt1-deficient mice have hypogonadotropic hypogonadism due to defective GnRH neuronal migration.GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.Profiling, Bioinformatic, and Functional Data on the Developing Olfactory/GnRH System Reveal Cellular and Molecular Pathways Essential for This Process and Potentially Relevant for the Kallmann Syndrome.Combined pituitary hormone deficiency: current and future status.Fibroblast growth factor deficiencies impact anxiety-like behavior and the serotonergic system.Genetic regulation of pituitary gland development in human and mouseIdentification of differentially expressed genes in early inner ear developmentClinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Human genetic disorders of axon guidance.The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.Fibroblast growth factor 8 deficiency compromises the functional response of the serotonergic system to stressGenetic determinants of pubertal timing in the general population.TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthoodOligogenic basis of isolated gonadotropin-releasing hormone deficiency.The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in HumansMutations in FEZF1 cause Kallmann syndromeDefective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.
P2860
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P2860
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@ast
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@en
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@en-gb
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@nl
type
label
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@ast
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@en
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@en-gb
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@nl
prefLabel
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@ast
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@en
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@en-gb
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@nl
P2093
P2860
P50
P3181
P356
P1476
Decreased FGF8 signaling cause ...... ing hormone in humans and mice
@en
P2093
Andrew Beenken
Anna V Eliseenkova
Celine Huot
Elka E Jacobson-Dickman
Janet E Hall
Jinghong Ma
John Falardeau
Lacey Plummer
Lindsay W Cole
Natalie Alois
P2860
P304
P3181
P356
10.1172/JCI34538
P407
P577
2008-08-01T00:00:00Z