Mutations in human gonadotropin and gonadotropin-receptor genes (Q36202073)

12 August 2017

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title

Mutations in human gonadotropin and gonadotropin-receptor genes (English)

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12 August 2017

Huhtaniemi IT

1

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PubMed ID

16034174

12 August 2017

Themmen AP

series ordinal

2

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12 August 2017

1 April 2005

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12 August 2017

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12 August 2017

26

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12 August 2017

207-217

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12 August 2017

3

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https://scigraph.springernature.com/pub.10.1385/endo:26:3:207

12 August 2017

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cites work

Structural biology of human follitropin and its receptor.

1 reference

12 December 2020

Study of the family of a patient with male-limited precocious puberty (MPP) due to T1193C transition in exon 11 of LH receptor gene

1 reference

12 December 2020

FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia

1 reference

12 December 2020

Genetic and functional analyses of polymorphisms in the human FSH receptor gene

1 reference

12 December 2020

Crystal structure of porcine ribonuclease inhibitor, a protein with leucine-rich repeats

1 reference

12 December 2020

Chorionic gonadotrophin beta subunit mRNA but not luteinising hormone beta subunit mRNA is expressed in the pituitary of the common marmoset (Callithrix jacchus).

1 reference

12 December 2020

Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone

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12 December 2020

Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome

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12 December 2020

Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene

1 reference

12 December 2020

Purification and structural analysis of a soluble human chorionogonadotropin hormone-receptor complex

1 reference

12 December 2020

No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis

1 reference

12 December 2020

New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.

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12 December 2020

Absence of activating mutations in the hot spots of the LH receptor and Gs-alpha genes in Leydig cell tumors

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12 December 2020

Amino-terminal leucine-rich repeats in gonadotropin receptors determine hormone selectivity.

1 reference

12 December 2020

Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH

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12 December 2020

An immunologically anomalous luteinizing hormone variant in a healthy woman

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12 December 2020

Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

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12 December 2020

The pathogenesis of the ovarian hyperstimulation syndrome

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12 December 2020

Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction

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12 December 2020

Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome

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12 December 2020

Dizygotic twinning is not linked to variation at the alpha-inhibin locus on human chromosome 2

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12 December 2020

Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling.

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12 December 2020

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

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12 December 2020

A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.

1 reference

12 December 2020

A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome

1 reference

12 December 2020

The luteinizing hormone beta-subunit exon 3 (Gly102Ser) gene mutation is rare in Korean women with endometriosis and polycystic ovary syndrome

1 reference

12 December 2020

Hypogonadism Caused by a Single Amino Acid Substitution in the β Subunit of Luteinizing Hormone

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12 December 2020

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

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12 December 2020

Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.

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12 December 2020

Follitropin (FSH) deficiency in an infertile male due to FSHbeta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations

1 reference

12 December 2020

Purification and characterization of a soluble bioactive amino-terminal extracellular domain of the human thyrotropin receptor

1 reference

12 December 2020

Luteinizing hormone signaling and breast cancer: polymorphisms and age of onset

1 reference

12 December 2020

Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain

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12 December 2020

Pituitary response to luteinizing hormone-releasing hormone in women with variant luteinizing hormone

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12 December 2020

A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

1 reference

12 December 2020

Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency

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12 December 2020

Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone

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12 December 2020

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.

1 reference

12 December 2020

Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype.

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12 December 2020

S680N substitution of the follicle-stimulating hormone receptor is a common polymorphism not associated with spontaneous human twinning

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12 December 2020

Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility

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12 December 2020

Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors

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12 December 2020

Cloning and functional expression of the luteinizing hormone receptor complementary deoxyribonucleic acid from the marmoset monkey testis: absence of sequences encoding exon 10 in other species

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12 December 2020

Activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to an agonist

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12 December 2020

Effect of human chorionic gonadotropin in the gene expression profile of MCF-7 cells.

1 reference

12 December 2020

Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism

1 reference

12 December 2020

New insights into the pathophysiology of ovarian hyperstimulation syndrome. What makes the difference between spontaneous and iatrogenic syndrome?

1 reference

12 December 2020

A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor

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12 December 2020

Functional and clinical consequences of mutations in the FSH receptor.

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12 December 2020

Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormone

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12 December 2020

Human controlled ovarian hyperstimulation outcome is a polygenic trait.

1 reference

12 December 2020

Crystal structure of human chorionic gonadotropin

1 reference

12 December 2020

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype

1 reference

12 December 2020

Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

1 reference

12 December 2020

Constitutive activation of G protein-coupled receptors as a result of selective substitution of a conserved leucine residue in transmembrane helix III.

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12 December 2020

Absence of exon 10 of the human luteinizing hormone (LH) receptor impairs LH, but not human chorionic gonadotropin action.

1 reference

12 December 2020

Three-dimensional structure of human follicle-stimulating hormone

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12 December 2020

Thyroid-stimulating hormone and thyroid-stimulating hormone receptor structure-function relationships

1 reference

12 December 2020

Functional study of a recombinant form of human LHbeta-subunit variant carrying the Gly(102)Ser mutation found in Asian populations

1 reference

12 December 2020

Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms

1 reference

12 December 2020

Genetic analysis of a variant luteinizing hormone in an infertile woman

1 reference

12 December 2020

Modeling of the three-dimensional structure of proteins with the typical leucine-rich repeats.

1 reference

12 December 2020

Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone

1 reference

12 December 2020

A case of a pregnant woman with luteal insufficiency and a mutation in the beta-subunit of luteinizing hormone.

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12 December 2020

Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation

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12 December 2020

An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man.

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12 December 2020

Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor

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12 December 2020

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix

1 reference

12 December 2020

Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication: functional comparison of wild-type and variant receptors

1 reference

12 December 2020

Effects of follicle-stimulating hormone (FSH) and human chorionic gonadotropin in individuals with an inactivating mutation of the FSH receptor

1 reference

12 December 2020

Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor

1 reference

12 December 2020

Genetic analysis of three polymorphic sites of the luteinizing hormone beta-subunit gene in infertile Korean men with nonobstructive azoospermia

1 reference

12 December 2020

The Lutropin/Choriogonadotropin Receptor, A 2002 Perspective

1 reference

12 December 2020

Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies

1 reference

12 December 2020

Crystal structure of rhodopsin: A G protein-coupled receptor

1 reference

12 December 2020

Finnish Disease Heritage I: characteristics, causes, background

1 reference

12 December 2020

Structure of human follicle-stimulating hormone in complex with its receptor

1 reference

12 December 2020

A novel Ala(-3)Thr mutation in the signal peptide of human luteinizing hormone beta-subunit: potentiation of the inositol phosphate signalling pathway and attenuation of the adenylate cyclase pathway by recombinant variant hormone

1 reference

12 December 2020

Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants

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12 December 2020

Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome.

1 reference

12 December 2020

Association of molecular variants of luteinizing hormone with male infertility

1 reference

12 December 2020

Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions

1 reference

12 December 2020

Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function.

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12 December 2020

Successful pregnancy in a woman with ovarian failure associated with mutation in the beta-subunit of luteinizing hormone

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12 December 2020

A naturally occurring genetic variant in the human chorionic gonadotropin-beta gene 5 is assembly inefficient

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12 December 2020

Identification of seven novel mutations in LH beta-subunit gene by SSCP.

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12 December 2020

Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.

1 reference

12 December 2020

Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations

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12 December 2020

Reproductive hormones, cancers, and conditions in relation to a common genetic variant of luteinizing hormone

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12 December 2020

Distribution and function of FSH receptor genetic variants in normal men

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12 December 2020

A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.

1 reference

12 December 2020

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis

1 reference

12 December 2020

Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty

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12 December 2020

Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF).

1 reference

12 December 2020

The leucine-rich repeat as a protein recognition motif

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12 December 2020

No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors.

1 reference

12 December 2020

The lutropin/choriogonadotropin receptor, a 2002 perspective

1 reference

12 December 2020

Identifiers

DOI

10.1385/ENDO:26:3:207

1 reference

PubMed ID

16034174

Dimensions Publication ID

12 August 2017

0 references

1 reference

PubMed ID

16034174