Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
about
Premature ovarian failureTranscription factor FIGLA is mutated in patients with premature ovarian failureA mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-IcLoss of constitutive activity of the growth hormone secretagogue receptor in familial short statureScreening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failureA human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityXX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcriptionOvarian failure related to eukaryotic initiation factor 2B mutations.Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene.FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programsContemporary genetic technologies and female reproductionClinical practice. Primary ovarian insufficiencyLysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14NOBOX homeobox mutation causes premature ovarian failureThe role of autoimmunity in premature ovarian failureGenetics of the ovarian reserveGenetics of primary ovarian insufficiency: new developments and opportunitiesA new approach to primary ovarian insufficiencyThe genetic basis of female reproductive disorders: etiology and clinical testingPharmacoperones: a new therapeutic approach for diseases caused by misfolded G protein-coupled receptorsFunctional genomics of PCOS: from GWAS to molecular mechanismsThe genetics of premature ovarian failure: current perspectivesMolecular cloning of the mouse follicle-stimulating hormone receptor complementary deoxyribonucleic acid: functional expression of alternatively spliced variants and receptor inactivation by a C566T transition in exon 7 of the coding sequenceFollicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2.Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalanceG protein-coupled receptor kinases and beta arrestins are relocalized and attenuate cyclic 3',5'-adenosine monophosphate response to follicle-stimulating hormone in rat primary Sertoli cellsHow genetic errors in GPCRs affect their function: Possible therapeutic strategiesThe Flat Earth Society: a rose by any other name?A clinical research integration special program (CRISP) for young women with primary ovarian insufficiencyImpaired fertility and FSH synthesis in gonadotrope-specific Foxl2 knockout miceAlternative splicing converts the G-protein coupled follitropin receptor gene into a growth factor type I receptor: implications for pleiotropic actions of the hormone.Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertilityThe Concise Guide to PHARMACOLOGY 2013/14: G protein-coupled receptorsA system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.Allosteric activation of the follicle-stimulating hormone (FSH) receptor by selective, nonpeptide agonists.Premature ovarian failure: a review.Genomewide discovery and classification of candidate ovarian fertility genes in the mouseNovel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.SMADs and FOXL2 synergistically regulate murine FSHbeta transcription via a conserved proximal promoter elementMeta-analysis of loci associated with age at natural menopause in African-American women
P2860
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P2860
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
description
1995 nî lūn-bûn
@nan
1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@ast
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@en
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@en-gb
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@nl
type
label
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@ast
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@en
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@en-gb
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@nl
prefLabel
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@ast
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@en
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@en-gb
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@nl
P2093
P1433
P1476
Mutation in the follicle-stimu ...... ergonadotropic ovarian failure
@en
P2093
A de la Chapelle
E M Sankila
E Nieschlag
H Lehväslaiho
I Huhtaniemi
J L Lucena
J Tapanainen
K Aittomäki
P304
P356
10.1016/0092-8674(95)90275-9
P407
P577
1995-09-22T00:00:00Z