Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
about
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short statureA link between high serum levels of human chorionic gonadotrophin and chorionic expression of its mature functional receptor (LHCGR) in Down's syndrome pregnanciesEtiology and treatment of hypogonadism in adolescentsStem cell therapy for the treatment of Leydig cell dysfunction in primary hypogonadismEtiology and treatment of hypogonadism in adolescentsFollicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2.G protein-coupled cholecystokinin-B/gastrin receptors are responsible for physiological cell growth of the stomach mucosa in vivoHow genetic errors in GPCRs affect their function: Possible therapeutic strategiesA transcriptome-wide screen for mRNAs enriched in fetal Leydig cells: CRHR1 agonism stimulates rat and mouse fetal testis steroidogenesis.Naturally occurring mutations of the luteinizing-hormone receptor: lessons learned about reproductive physiology and G protein-coupled receptors.'Paracrine' control of spermatogenesis.Clinical features of women with resistance to luteinizing hormone.Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia.Chaperoning G protein-coupled receptors: from cell biology to therapeuticsMutations of LH and FSH receptors.Human gene mutations causing infertilityChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonistAndrogen insensitivity syndrome: a survey of diagnostic procedures and management in the UKAdvances in endocrinologyTesticular dysgenesis does not affect expression of anti-müllerian hormone by Sertoli cells in premeiotic seminiferous tubulesRevisiting and questioning functional rescue between dimerized LH receptor mutants.Human Chorionic Gonadotropin Partially Mediates Phthalate Association With Male and Female Anogenital Distance.The foetal Leydig cell-- differentiation, function and regulation.Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone StimulationBioluminescence resonance energy transfer studies reveal constitutive dimerization of the human lutropin receptor and a lack of correlation between receptor activation and the propensity for dimerization.A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister.Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.Human testicular insulin-like factor 3: in relation to development, reproductive hormones and andrological disorders.Testicular descent: INSL3, testosterone, genes and the intrauterine milieu.Structural and functional plasticity of the luteinizing hormone/choriogonadotrophin receptor.Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis.Morphological and functional maturation of Leydig cells: from rodent models to primates.Cell interactions and genetic regulation that contribute to testicular Leydig cell development and differentiation.Constitutive and agonist-dependent self-association of the cell surface human lutropin receptor.Basolateral localization and transcytosis of gonadotropin and thyrotropin receptors expressed in Madin-Darby canine kidney cells.Structure and activation of the TSH receptor transmembrane domain.[Genetic aspects of fertility disorders].
P2860
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P2860
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
description
1995 nî lūn-bûn
@nan
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին 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
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@ast
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@en
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@en-gb
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@nl
type
label
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@ast
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@en
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@en-gb
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@nl
prefLabel
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@ast
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@en
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@en-gb
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@nl
P2093
P3181
P356
P1433
P1476
Male pseudohermaphroditism due ...... einizing hormone receptor gene
@en
P2093
C Y Hayashida
H H Ropers
J B Fridman
M van Reen
S P Toledo
P2860
P2888
P3181
P356
10.1038/NG0295-160
P407
P577
1995-02-01T00:00:00Z
P5875
P6179
1040855877