(Q30424272)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

Sarabeth Broder-Fingert

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Andrew A Dwyer

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Jean-Pierre Chanoine

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

21

Nelly Pitteloud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

9

Lacey Plummer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

28

Stephanie B Seminara

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

26

Janet E Hall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

16

Richard Quinton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1

Yee-Ming Chan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

10

Felecia Cerrato

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

17

Timothy Cheetham

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

19

Svetlana Ten

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Sophia Paraschos

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Risto Lapatto

4

1 reference

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11 February 2020

Margaret Au

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Virginia Hughes

6

1 reference

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11 February 2020

Suzy D C Bianco

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Le Min

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Adelaide De Guillebon

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

I-Hsuan Wu

12

1 reference

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11 February 2020

Fazal Wahab

13

1 reference

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11 February 2020

Susan Kirsch

15

1 reference

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11 February 2020

Metin Ozata

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kathryn A Martin

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Raphael Schiffmann

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Hetty J Van der Kamp

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Shahla Nader

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Ursula B Kaiser

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

language of work or name

English

0 references

publication date

31 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

11 February 2020

published in

1 reference

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11 February 2020

volume

96

1 reference

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11 February 2020

issue

11

1 reference

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11 February 2020

page(s)

E1771-81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

A genetic basis for functional hypothalamic amenorrhea

11 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=3205899

A map of human genome variation from population-scale sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

MutationTaster evaluates disease-causing potential of sequence alterations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Physiological roles of the kisspeptin/GPR54 system in the neuroendocrine control of reproduction.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

A high-throughput small-molecule ligand screen targeted to agonists and antagonists of the G-protein-coupled receptor GPR54.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Mutations of the KISS1 gene in disorders of puberty

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Widespread monoallelic expression on human autosomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Kisspeptin-10, a KiSS-1/metastin-derived decapeptide, is a physiological invasion inhibitor of primary human trophoblasts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

The GPR54 gene as a regulator of puberty

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Human non-synonymous SNPs: server and survey

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Suppression of metastasis in human breast carcinoma MDA-MB-435 cells after transfection with the metastasis suppressor gene, KiSS-1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Metastasis suppressed, but tumorigenicity and local invasiveness unaffected, in the human melanoma cell line MelJuSo after introduction of human chromosomes 1 or 6.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Detecting polymorphisms and mutations in candidate genes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3205899

Dramatic elevation of plasma metastin concentrations in human pregnancy: metastin as a novel placenta-derived hormone in humans

26 November 2018

1 reference

12 December 2020

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

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

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

1 reference

12 December 2020

Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2011-0518

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21880801%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

21880801

1 reference