An ancient founder mutation in PROKR2 impairs human reproduction (Q36231696)

12 August 2017

An ancient founder mutation in PROKR2 impairs human reproduction (English)

1 reference

Magdalena Avbelj Stefanija

12 August 2017

Magdalena Avbelj Stefanija

1

0 references

Gerasimos P Sykiotis

Gerasimos P Sykiotis

3

0 references

Andrew A Dwyer

Andrew A Dwyer

10

0 references

Simon Pearce

Simon H Pearce

Ana Claudia Latronico Xavier

13

0 references

Ana Claudia Latronico

19

0 references

James F. Gusella

20

James F Gusella

1 reference

12 August 2017

23

Nelly Pitteloud

1 reference

12 August 2017

7

Lacey Plummer

1 reference

12 August 2017

22

William F Crowley

1 reference

12 August 2017

5

Richard Quinton

1 reference

12 August 2017

Elka Jacobson-Dickman

17

Elka E Jacobson-Dickman

1 reference

Ravikumar Balasubramanian

12 August 2017

9

Ravikumar Balasubramanian

1 reference

12 August 2017

12

Timothy Cheetham

1 reference

12 August 2017

18

Svetlana Ten

1 reference

12 August 2017

4

Jacques Young

1 reference

12 August 2017

2

Marc Jeanpierre

1 reference

12 August 2017

21

Catherine Dode

1 reference

12 August 2017

Ana Paula Abreu

6

1 reference

12 August 2017

Margaret G Au

8

1 reference

12 August 2017

Jose C Florez

11

1 reference

12 August 2017

Radhika Purushothaman

14

1 reference

12 August 2017

Albert Schinzel

15

1 reference

12 August 2017

Michel Pugeat

16

1 reference

12 August 2017

5 July 2012

1 reference

12 August 2017

Human Molecular Genetics

1 reference

12 August 2017

21

1 reference

12 August 2017

19

1 reference

12 August 2017

4314-4324

1 reference

A genetic basis for functional hypothalamic amenorrhea

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Expanding the phenotype and genotype of female GnRH deficiency

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Prokineticin 2 is a hypothalamic neuropeptide that potently inhibits food intake

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

SNP genotyping using the Sequenom MassARRAY iPLEX platform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Cytokine properties of prokineticins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Disruption of the circadian output molecule prokineticin 2 results in anxiolytic and antidepressant-like effects in mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Loss of prokineticin receptor 2 signaling predisposes mice to torpor

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Role of Bv8 in neutrophil-dependent angiogenesis in a transgenic model of cancer progression

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Bv8 regulates myeloid-cell-dependent tumour angiogenesis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Expression of prokineticins and their receptors in the adult mouse brain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Efficiency of truncation selection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Efficiency and power in genetic association studies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Haploview: analysis and visualization of LD and haplotype maps

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Phenylketonuria mutations in Europe

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleus

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

New estimates of intergenerational time intervals for the calculation of age and origins of mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Salmonella typhi uses CFTR to enter intestinal epithelial cells.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

The neuroendocrine control of the menstrual cycle.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Sex differences in odor identification ability: a cross-cultural analysis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

The physiology of gonadotropin-releasing hormone (GnRH) secretion in men and women.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Nomenclature for the description of human sequence variations.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS264

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3441126

The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism

5 December 2018

1 reference

12 December 2020

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism

1 reference

12 December 2020

MALDI-TOF mass spectrometry-based SNP genotyping

1 reference

12 December 2020

The gonadotropin-releasing hormone (GnRH)-1 gene, the GnRH receptor gene, and their promoters in patients with idiopathic hypogonadotropic hypogonadism with or without resistance to GnRH action

1 reference

12 December 2020

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations

1 reference

12 December 2020

Adult-onset idiopathic hypogonadotropic hypogonadism--a treatable form of male infertility

1 reference

12 December 2020

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS264

1 reference

12 August 2017

1 reference

12 August 2017

1 reference