When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). (Q36201503)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Nelly Pitteloud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Lacey Plummer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Stephanie B Seminara

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

William F Crowley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Elena Gianetti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Janet E Hall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Margaret G Au

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Ursula B Kaiser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Richard Quinton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Jane A Stewart

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Paulina M Merino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Lynne L Levitsky

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Louise Izatt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Mariarosaria Lang-Muritano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Victor Y Fujimoto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Robert G Dluhy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Matthew L Chase

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

English

0 references

publication date

28 June 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

6 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

E1798-807

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

A genetic basis for functional hypothalamic amenorrhea

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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=3431570

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=3431570

Disruption of the single copy gonadotropin-releasing hormone receptor in mice by gene trap: severe reduction of reproductive organs and functions in developing and adult 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=3431570

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=3431570

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=3431570

Gonadotropin-releasing hormone: GnRH receptor signaling in extrapituitary tissues.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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=3431570

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=3431570

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=3431570

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=3431570

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=3431570

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=3431570

Immunolocalization of gonadotropin-releasing hormone (GnRH)-I, GnRH-II, and type I GnRH receptor during follicular development in the human ovary.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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=3431570

GnRH in non-hypothalamic reproductive tissues

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

The GPR54 gene as a regulator of puberty

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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=3431570

PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Prediction of deleterious human alleles

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Regulation of human gonadotropin-releasing hormone receptor gene expression in placental 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=3431570

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=3431570

Expression and regulation of gonadotropin-releasing hormone (GnRH) and GnRH receptor messenger ribonucleic acids in human granulosa-luteal 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=3431570

The eating attitudes test: psychometric features and clinical correlates

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Neuroendocrine regulation of the corpus luteum in the human. Evidence for pulsatile progesterone 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=3431570

Variations in pattern of pubertal changes in girls

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Variations in the Pattern of Pubertal Changes in Boys

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Hypogonadotropic disorders in men and women: diagnosis and therapy with pulsatile gonadotropin-releasing hormone

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Gonadotropin-releasing hormone effects on placental hormones during gestation: I. Alpha-human chorionic gonadotropin, human chorionic gonadotropin and human chorionic somatomammotropin

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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=3431570

Obligatory exercise and eating pathology in college females: replication and development of a structural model

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Reversal of idiopathic 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=3431570

Parallel regulation of membrane trafficking and dominant-negative effects by misrouted gonadotropin-releasing hormone receptor mutants

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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=3431570

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

Psychological correlates of functional hypothalamic amenorrhea.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3431570

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=3431570

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

22 September 2018

1 reference

12 December 2020

Specific gonadotrophin-releasing hormone analogue binding predominantly in human luteinized follicular aspirates and not in human pre-ovulatory follicles

1 reference

12 December 2020

Mutations of the Conserved DRS Motif in the Second Intracellular Loop of the Gonadotropin-Releasing Hormone Receptor Affect Expression, Activation, and Internalization

1 reference

12 December 2020

Fibroblast growth factor-2 and fibroblast growth factor receptor-1 mRNA expression and peptide localization in placentae from normal and diabetic pregnancies

1 reference

12 December 2020

Free alpha-subunit is superior to luteinizing hormone as a marker of gonadotropin-releasing hormone despite desensitization at fast pulse frequencies

1 reference

12 December 2020

Fibroblast growth factor-10 and fibroblast growth factor receptors 1-4: expression and peptide localization in human decidua and placenta

1 reference

12 December 2020

In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles

1 reference

12 December 2020

Penile anthropometry in Brazilian children and adolescents

1 reference

12 December 2020

Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations

1 reference

12 December 2020

Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism

1 reference

12 December 2020

University of Pennsylvania Smell Identification Test: a rapid quantitative olfactory function test for the clinic

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2012-1264

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

22745237

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22745237%20AND%20SRC:MED&resulttype=core&format=json