A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersGenetic Models for the Study of Luteinizing Hormone Receptor FunctionHow genetic errors in GPCRs affect their function: Possible therapeutic strategiesGerminal Cell Aplasia in Kif18a Mutant Male Mice Due to Impaired Chromosome Congression and Dysregulated BubR1 and CENP-ENaturally occurring mutations of the luteinizing-hormone receptor: lessons learned about reproductive physiology and G protein-coupled receptors.Clinical features of women with resistance to luteinizing hormone.A novel compound heterozygous mutation of the luteinizing hormone receptor -implications for fertility.Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia.Mutations of LH and FSH receptors.The genetics of male undermasculinization.The consequences of mutations in the reproductive endocrine system.Revisiting and questioning functional rescue between dimerized LH receptor mutants.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.The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility.Structural and functional plasticity of the luteinizing hormone/choriogonadotrophin receptor.Structure and activation of the TSH receptor transmembrane domain.Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors.Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.Hipoplasia das células de LeydigGenética molecular do eixo hipotálamo-hipófise-gonadal
P2860
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P2860
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A homozygous mutation in the l ...... eceptor activity and phenotype
@ast
A homozygous mutation in the l ...... eceptor activity and phenotype
@en
A homozygous mutation in the l ...... eceptor activity and phenotype
@en-gb
A homozygous mutation in the l ...... eceptor activity and phenotype
@nl
type
label
A homozygous mutation in the l ...... eceptor activity and phenotype
@ast
A homozygous mutation in the l ...... eceptor activity and phenotype
@en
A homozygous mutation in the l ...... eceptor activity and phenotype
@en-gb
A homozygous mutation in the l ...... eceptor activity and phenotype
@nl
prefLabel
A homozygous mutation in the l ...... eceptor activity and phenotype
@ast
A homozygous mutation in the l ...... eceptor activity and phenotype
@en
A homozygous mutation in the l ...... eceptor activity and phenotype
@en-gb
A homozygous mutation in the l ...... eceptor activity and phenotype
@nl
P2093
P356
P1476
A homozygous mutation in the l ...... eceptor activity and phenotype
@en
P2093
A P Themmen
H G Brunner
J W Martens
M Ezabella
M Verhoef-Post
S P Toledo
P304
P356
10.1210/MEND.12.6.0124
P407
P577
1998-06-01T00:00:00Z