An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance (Q34329127)

1 August 2017

title

An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance (English)

1 reference

1 August 2017

Amla Kuechler

1 reference

1 August 2017

Berthold P Hauffa

1 reference

1 August 2017

Angela Köninger

1 reference

1 August 2017

Gunnar Kleinau

1 reference

1 August 2017

Beate Albrecht

1 reference

1 August 2017

Bernhard Horsthemke

1 reference

1 August 2017

Jörg Gromoll

1 reference

1 August 2017

publication date

20 January 2010

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

1 August 2017

page(s)

656-661

1 reference

Ligand binding and micro-switches in 7TM receptor structures

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Thyrotropin and homologous glycoprotein hormone receptors: structural and functional aspects of extracellular signaling mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Crystal structure of opsin in its G-protein-interacting conformation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

High-resolution distance mapping in rhodopsin reveals the pattern of helix movement due to activation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Molecular pathology of the FSH receptor: new insights into FSH physiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

The evolution of transmembrane helix kinks and the structural diversity of G protein-coupled receptors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Proper targeting and activity of a nonfunctioning thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Identification of amino acid residues in transmembrane helices VI and VII of the lutropin/choriogonadotropin receptor involved in signaling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Localization of the human FSH receptor to chromosome 2 p21 using a genomic probe comprising exon 10

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

Structural mimicry of proline kinks: tertiary packing interactions support local structural distortions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.244

Head circumference from birth to eighteen years. Practical composite international and interracial graphs

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987335

Longitudinal physical development of healthy children 0 to 18 years of age. Body length/height, body weight and growth velocity

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20087398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inactivating FSH receptor mutations and gonadal dysfunction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20087398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of mutations in glycoprotein hormone receptors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20087398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.244

1 reference

1 August 2017

1 reference

1 August 2017

1 reference