A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
about
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 FSHFollicle-stimulating hormone receptor (FSHR) alternative skipping of exon 2 or 3 affects ovarian response to FSHFollicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea.Diagnosis of diseases of steroid hormone production, metabolism and action.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 sequencingThe 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.Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis.Transgenic mutant D567G but not wild-type human FSH receptor overexpression provides FSH-independent and promiscuous glycoprotein hormone Sertoli cell signaling.Maintenance of spermatogenesis by the activated human (Asp567Gly) FSH receptor during testicular regression due to hormonal withdrawal.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].The Impact of Genetic Variation and Gene Expression Level of The Follicle-Stimulating Hormone Receptor on Ovarian Reserve.Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.Genética molecular do eixo hipotálamo-hipófise-gonadal
P2860
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P2860
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A novel loss of function mutat ...... and molecular characteristics.
@ast
A novel loss of function mutat ...... and molecular characteristics.
@en
A novel loss of function mutat ...... and molecular characteristics.
@nl
type
label
A novel loss of function mutat ...... and molecular characteristics.
@ast
A novel loss of function mutat ...... and molecular characteristics.
@en
A novel loss of function mutat ...... and molecular characteristics.
@nl
prefLabel
A novel loss of function mutat ...... and molecular characteristics.
@ast
A novel loss of function mutat ...... and molecular characteristics.
@en
A novel loss of function mutat ...... and molecular characteristics.
@nl
P2093
P356
P1433
P1476
A novel loss of function mutat ...... and molecular characteristics
@en
P2093
Ilpo T Huhtaniemi
Linda A Allen
Pirjo Pakarinen
Stephen G Ball
Thomas J Kotlar
Tim D Cheetham
P304
P356
10.1093/HUMREP/DEG046
P407
P577
2003-02-01T00:00:00Z