Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.

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Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HUMREP/DEW073
P698PubMed publication ID27094476

P50authorThierry BrueQ40173582
Séverine TrabadoQ57002857
Jacques YoungQ79281866
P2093author name stringBruno Francou
Larbi Amazit
Sylvie Brailly-Tabard
Anne Guiochon-Mantel
Jérôme Bouligand
Philippe Chanson
Charlotte Paul
Claire Bouvattier
Dominique Maiter
Alejandra Cartes
Frédérique Albarel
P2860cites workReversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutationsQ21134513
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54Q24685744
The GPR54 gene as a regulator of pubertyQ28211950
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and couplingQ28484094
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutationQ28485191
Approach to the Male Patient with Congenital Hypogonadotropic HypogonadismQ30047648
Regulation of SRC-3 intercompartmental dynamics by estrogen receptor and phosphorylationQ30480773
PRR repeats in the intracellular domain of KISS1R are important for its export to cell membrane.Q33633147
Regulation of GPR54 signaling by GRK2 and {beta}-arrestinQ33642051
Kallmann's syndrome: is it always for life?Q33872650
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthoodQ33984838
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutationsQ34059565
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.Q34093958
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.Q34112165
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.Q34225321
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadismQ34342881
KISS1R signals independently of Gαq/11 and triggers LH secretion via the β-arrestin pathway in the male mouseQ34343082
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.Q34397759
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptorQ34446712
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproductionQ34902985
R31C GNRH1 mutation and congenital hypogonadotropic hypogonadismQ34920649
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/PalateQ35833400
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).Q36201503
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of ReproductionQ36385294
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadismQ36405998
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disordersQ37017449
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadismQ37261655
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationshipsQ37704009
Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism.Q42674514
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humansQ43145611
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.Q45187029
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.Q45964826
Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.Q46506236
The role of kisspeptin-GPR54 signaling in the tonic regulation and surge release of gonadotropin-releasing hormone/luteinizing hormone.Q46918321
The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive systemQ47346849
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.Q51110573
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.Q51338070
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.Q51522144
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.Q51778413
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.Q51801286
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.Q55067328
Inactivating KISS1 mutation and hypogonadotropic hypogonadismQ55671569
Reversal of idiopathic hypogonadotropic hypogonadismQ55847307
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadismQ57632449
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectcongenital disorderQ727096
hypogonadismQ938107
P304page(s)1363-1374
P577publication date2016-04-19
P1433published inHuman ReproductionQ5937357
P1476titlePrevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study
P478volume31

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cites work (P2860)
Q92311486An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family
Q52407086Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency.
Q49026861Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures
Q89341662Contrôle de l’axe gonadotrope : nouveaux aspects physiologiques et thérapeutiques: Control of the gonadotrope axis: new physiologic and therapeutic aspects
Q90569848Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
Q64039728Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel Loss-of-Function Mutation

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