A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.
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Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girlsPremature ovarian failureRole of the Extracellular and Intracellular Loops of Follicle-Stimulating Hormone Receptor in Its FunctionStructure-Based Sequence Alignment of the Transmembrane Domains of All Human GPCRs: Phylogenetic, Structural and Functional ImplicationsHow genetic errors in GPCRs affect their function: Possible therapeutic strategiesThe Concise Guide to PHARMACOLOGY 2013/14: G protein-coupled receptorsNovel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.Toward gene therapy of premature ovarian failure: intraovarian injection of adenovirus expressing human FSH receptor restores folliculogenesis in FSHR(-/-) FORKO mice.Identification and in vitro characterization of follicle stimulating hormone (FSH) receptor variants associated with abnormal ovarian response to FSHClinical features of women with resistance to luteinizing hormone.Follicle-stimulating hormone receptor (FSHR) alternative skipping of exon 2 or 3 affects ovarian response to FSHLinkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal age.Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea.Mutations of LH and FSH receptors.Bone marrow transplantation restores follicular maturation and steroid hormones production in a mouse model for primary ovarian failureAn unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencingHuman gene mutations causing infertilityThe consequences of mutations in the reproductive endocrine system.Silencing of Fshr occurs through a conserved, hypersensitive site in the first intron.Role of the intracellular domains of the human FSH receptor in G(alphaS) protein coupling and receptor expressionA distribution of two SNPs in exon 10 of the FSHR gene among the women with a diminished ovarian reserve in UkraineThe molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse modelsMutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.Ovarian-like differentiation in eutopic and ectopic endometrioses with aberrant FSH receptor, INSL3 and GATA4/6 expressionNo evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis.Effect of FSH receptor-binding inhibitor-8 on FSH-mediated granulosa cell signaling and proliferation.Structure and activation of the TSH receptor transmembrane domain.First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome.Physiological sex steroid replacement in premature ovarian failure: randomized crossover trial of effect on uterine volume, endometrial thickness and blood flow, compared with a standard regimen.A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea.Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype.[Premature ovarian failure: present aspects].A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.How polymorphic markers contribute to genetic diseases in different populations? The study of inhibin A for premature ovarian insufficiency.Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.Pharmacoperones for Misfolded Gonadotropin Receptors.Essential role of follicle stimulating hormone in the maintenance of caprine preantral follicle viability in vitro.Molecular cloning and functional characterization of endogenous recombinant common marmoset monkey (Callithrix jacchus) follicle-stimulating hormone.Molecular Footprints of Aquatic Adaptation Including Bone Mass Changes in Cetaceans.
P2860
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P2860
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 1998
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A novel phenotype related to p ...... stimulating hormone receptor.
@en
A novel phenotype related to p ...... stimulating hormone receptor.
@nl
type
label
A novel phenotype related to p ...... stimulating hormone receptor.
@en
A novel phenotype related to p ...... stimulating hormone receptor.
@nl
prefLabel
A novel phenotype related to p ...... stimulating hormone receptor.
@en
A novel phenotype related to p ...... stimulating hormone receptor.
@nl
P2093
P2860
P356
P1476
A novel phenotype related to p ...... stimulating hormone receptor.
@en
P2093
Desroches A
Matuchansky C
Touraine P
P2860
P304
P356
10.1172/JCI3795
P407
P577
1998-10-01T00:00:00Z