Mutations along the hypothalamic-pituitary-gonadal axis affecting male reproduction (Q37026012)

17 August 2017

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title

Mutations along the hypothalamic-pituitary-gonadal axis affecting male reproduction (English)

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17 August 2017

1

Ilpo Huhtaniemi

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17 August 2017

Maria Alevizaki

2

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17 August 2017

1 December 2007

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Reproductive BioMedicine Online

17 August 2017

1 reference

17 August 2017

15

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17 August 2017

6

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17 August 2017

622-632

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Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism.

17 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Potential Leydig cell mitogenic signals generated by the wild-type and constitutively active mutants of the lutropin/choriogonadotropin receptor (LHR).

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Leydig-cell agenesis: a cause of male pseudohermaphroditism

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Molecular pathogenesis of Kallmann's syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Neural transplantation in hypogonadal (hpg) mice - physiology and neurobiology

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Two Novel Mutations in the Gonadotropin-Releasing Hormone Receptor Gene in Brazilian Patients with Hypogonadotropic Hypogonadism and Normal Olfaction

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Novel insights into the aetiology and pathogenesis of hypopituitarism

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

A Syndrome of Gonadotropin Resistance Possibly due to a Luteinizing Hormone Receptor Defect*

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Gonadotropin-independent regulation of steroidogenesis in the fetal rat testis

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Novel concepts of human chorionic gonadotropin: reproductive system interactions and potential in the management of infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Control of GnRH neuronal activity by metabolic factors: the role of leptin and insulin

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Male Hypogonadism Caused by Homozygous Deletion of Exon 10 of the Luteinizing Hormone (LH) Receptor: Differential Action of Human Chorionic Gonadotropin and LH

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Functional and clinical consequences of mutations in the FSH receptor.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

KISS1 metastasis suppression and emergent pathways

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

FGF signaling through FGFR1 is required for olfactory bulb morphogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Fetal testis--a very special endocrine organ

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Mutations in human gonadotropin and gonadotropin-receptor genes

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Screening of FSH receptor gene mutation (C566T) in azoospermic men in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Targeted disruption of the pituitary glycoprotein hormone alpha-subunit produces hypogonadal and hypothyroid mice.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Follicle-stimulating hormone receptor gene mutations are not evident in Greek women with premature ovarian failure and poor responders

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Disorders of androgen biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Dizygotic Twinning Is Not Linked to Variation at the -Inhibin Locus on Human Chromosome 2

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Hormones in male sexual development

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Testis determination requires insulin receptor family function in mice

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

1 reference

7 January 2021

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Fertility in luteinizing hormone receptor-knockout mice after wild-type ovary transplantation demonstrates redundancy of extragonadal luteinizing hormone action

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Complete Hypogonadotropic Hypogonadism Associated with a Novel Inactivating Mutation of the Gonadotropin-Releasing Hormone Receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Early development of the pituitary gland: induction and shaping of Rathke's pouch.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Origin of luteinizing hormone-releasing hormone neurons

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

The GPR54 gene as a regulator of puberty

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Molecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

Normal prenatal but arrested postnatal sexual development of luteinizing hormone receptor knockout (LuRKO) mice

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960529-9

7 January 2021

10.1016/S1472-6483(10)60529-9

Identifiers

DOI

1 reference

17 August 2017

1 reference

PubMed ID

18062859