Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (Q34597433)

3 August 2017

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (English)

1 reference

3 August 2017

1 reference

1 reference

Daniel L Metzger

7

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Andrew A Dwyer

object named as

Andrew A Dwyer

9

0 references

Moosa Mohammadi

object named as

Moosa Mohammadi

14

0 references

Nelly Pitteloud

1

object named as

Nelly Pitteloud

1 reference

3 August 2017

15

William F Crowley

1 reference

3 August 2017

12

Janet E Hall

1 reference

3 August 2017

4

Anna V Eliseenkova

1 reference

3 August 2017

2

James S Acierno

1 reference

3 August 2017

6

Omar A Ibrahimi

1 reference

3 August 2017

11

Maria Yialamas

1 reference

3 August 2017

3

Astrid Meysing

1 reference

3 August 2017

Jinghong Ma

5

1 reference

3 August 2017

Frances J Hayes

8

1 reference

3 August 2017

Virginia A Hughes

10

1 reference

3 August 2017

Ellen Grant

13

1 reference

3 August 2017

language of work or name

English

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publication date

10 April 2006

1 reference

Proceedings of the National Academy of Sciences of the United States of America

3 August 2017

1 reference

3 August 2017

103

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3 August 2017

6281-6286

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3 August 2017

16

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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Structural basis for fibroblast growth factor receptor activation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

The GPR54 gene as a regulator of puberty

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Fgfr1 regulates patterning of the pharyngeal region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Fibroblast growth factors in the developing central nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Quality control of mRNA function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Episodic luteinizing hormone secretion in man. Pulse analysis, clinical interpretation, physiologic mechanisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Hypogonadotrophic hypogonadism associated with prelingual deafness due to a connexin 26 gene mutation

7 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

FGF signaling through FGFR1 is required for olfactory bulb morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

Developmental regulation of gonadotropin-releasing hormone neurons by fibroblast growth factor signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

A neurophysiological study of mirror movements in adults and children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

Methodology employed for the structure determination of tumour necrosis factor, a case of high non-crystallographic symmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0600962103

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458869

Clinical and laboratory heterogeneity in idiopathic hypogonadotropic hypogonadism

26 October 2018

1 reference

12 December 2020

Idiopathic Hypothalamic Hypogonadotropic Hypogonadism With Polyostotic Fibrous Dysplasia

1 reference

12 December 2020

Association of isolated hypogonadotropic hypogonadism, pronounced hypodontia and the Wolff-Parkinson-White syndrome

1 reference

12 December 2020

Characterization of pp60c-src tyrosine kinase activities using a continuous assay: autoactivation of the enzyme is an intermolecular autophosphorylation process

1 reference

12 December 2020

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0600962103

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference