Entry
Name
Type
Loss of function
Gene
GNRHR gonadotropin releasing hormone receptor [KO:
K04280 ]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
Disease
H00255 Hypogonadotropic hypogonadism
Reference
Authors
Cioppi F, Riera-Escamilla A, Manilall A, Guarducci E, Todisco T, Corona G, Colombo F, Bonomi M, Flanagan CA, Krausz C
Title
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
Journal
Reference
Authors
Kottler ML, Chauvin S, Lahlou N, Harris CE, Johnston CJ, Lagarde JP, Bouchard P, Farid NR, Counis R
Title
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.
Journal
Reference
Authors
Maya-Nunez G, Janovick JA, Ulloa-Aguirre A, Soderlund D, Conn PM, Mendez JP
Title
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
Journal
Reference
Authors
Caron P, Chauvin S, Christin-Maitre S, Bennet A, Lahlou N, Counis R, Bouchard P, Kottler ML
Title
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
Journal
Reference
Authors
Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC
Title
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
Journal
Reference
Authors
Aguilar-Rojas A, Perez-Solis MA, Maya-Nunez G
Title
The gonadotropin-releasing hormone system: Perspectives from reproduction to cancer (Review).
Journal
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