G protein-coupled receptors: mutations and endocrine diseases (Q37837505)

24 August 2017

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title

G protein-coupled receptors: mutations and endocrine diseases (English)

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G protein-coupled receptor

24 August 2017

main subject

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2

Sabine Costagliola

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24 August 2017

1

Gilbert Vassart

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24 August 2017

publication date

8 February 2011

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Nature Reviews Endocrinology

24 August 2017

published in

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24 August 2017

volume

7

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24 August 2017

issue

6

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24 August 2017

page(s)

362-372

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Structural snapshots of conformational changes in a seven-helix membrane protein: lessons from bacteriorhodopsin

24 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Mutant G-protein-coupled receptors as a cause of human diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

G protein-coupled receptors disrupted in human genetic disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Inherited endocrine diseases involving G proteins and G protein-coupled receptors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Historical review: a brief history and personal retrospective of seven-transmembrane receptors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Seven transmembrane receptors: something old, something new.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Crystal structure of rhodopsin: A G protein-coupled receptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

The structure and function of G-protein-coupled receptors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

The 2.6 angstrom crystal structure of a human A2A adenosine receptor bound to an antagonist

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Engineering G protein-coupled receptors to facilitate their structure determination.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Regions of the alpha 1-adrenergic receptor involved in coupling to phosphatidylinositol hydrolysis and enhanced sensitivity of biological function

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A G protein-coupled receptor at work: the rhodopsin model.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Structure of a nanobody-stabilized active state of the β(2) adrenoceptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Teaching old receptors new tricks: biasing seven-transmembrane receptors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

GPCR interacting proteins (GIPs) in the nervous system: Roles in physiology and pathologies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Fine-tuning of GPCR activity by receptor-interacting proteins

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Dimerization in GPCR mobility and signaling

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Oligomerization of G-protein-coupled transmitter receptors.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4R

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Varenicline for tobacco dependence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Evidence for a single heptahelical domain being turned on upon activation of a dimeric GPCR

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Asymmetric conformational changes in a GPCR dimer controlled by G-proteins.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

CXCR2 chemokine receptor antagonism enhances DOP opioid receptor function via allosteric regulation of the CXCR2-DOP receptor heterodimer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Allosteric communication between protomers of dopamine class A GPCR dimers modulates activation.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Physiology and pathophysiology of the calcium-sensing receptor in the kidney

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Four missense mutations in the ghrelin receptor result in distinct pharmacological abnormalities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Ghrelin receptor mutations--too little height and too much hunger

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A conserved Asn in TM7 of the thyrotropin receptor is a common requirement for activation by both mutations and its natural agonist.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Modifying ligand-induced and constitutive signaling of the human 5-HT4 receptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2 cascade mediates TSH action on thyroid hormone synthesis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

RAMPs: The past, present and future.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Functional characterization of two human receptor activity-modifying protein 3 variants

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

The genetics of ACTH resistance syndromes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

PICK1 uncoupling from mGluR7a causes absence-like seizures

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Formation of a ternary complex among NHERF1, beta-arrestin, and parathyroid hormone receptor.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Sub-picomolar relaxin signalling by a pre-assembled RXFP1, AKAP79, AC2, beta-arrestin 2, PDE4D3 complex

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Nephrogenic syndrome of inappropriate antidiuresis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Transmembrane regions V and VI of the human luteinizing hormone receptor are required for constitutive activation by a mutation in the third intracellular loop

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A molecular dissection of the glycoprotein hormone receptors.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A GPR54-activating mutation in a patient with central precocious puberty.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Molecular biology of hereditary diabetes insipidus.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Functional characterization of vasopressin type 2 receptor substitutions (R137H/C/L) leading to nephrogenic diabetes insipidus and nephrogenic syndrome of inappropriate antidiuresis: implications for treatments

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Transgenic mice overexpressing alpha2A-adrenoceptors in pancreatic beta-cells show altered regulation of glucose homeostasis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Overexpression of alpha2A-adrenergic receptors contributes to type 2 diabetes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Whole-genome resequencing reveals loci under selection during chicken domestication

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Effect of photoperiod on the thyroid-stimulating hormone neuroendocrine system in the European hamster (Cricetus cricetus).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Thyrotrophin in the pars tuberalis triggers photoperiodic response.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

New insights into the evolution of chorionic gonadotrophin

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Glycoprotein hormone receptors: determinants in leucine-rich repeats responsible for ligand specificity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Systematic generation of in vivo G protein-coupled receptor mutants in the rat.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Signaling by internalized G-protein-coupled receptors.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Persistent cAMP signaling by thyrotropin (TSH) receptors is not dependent on internalization

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

INSL3/RXFP2 signaling in testicular descent.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

G-protein-coupled receptor heteromer dynamics.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038/NRENDO.2011.20

Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans

31 March 2020

1 reference

12 December 2020

McCune-Albright syndrome in adulthood

1 reference

12 December 2020

Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation

1 reference

12 December 2020

A family with complete resistance to thyrotropin-releasing hormone

1 reference

12 December 2020

Somatic and germline mutations of the TSH receptor and thyroid diseases

1 reference

12 December 2020

Activating mutations of the TSH receptor in differentiated thyroid carcinomas.

1 reference

12 December 2020

Diversity and Prevalence of Somatic Mutations in the Thyrotropin Receptor and Gsα Genes as a Cause of Toxic Thyroid Adenomas1

1 reference

12 December 2020

Constitutive activation of the alpha 1B-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene

1 reference

12 December 2020

A mutation-induced activated state of the beta 2-adrenergic receptor. Extending the ternary complex model

1 reference

12 December 2020

The Follicle-Stimulating Hormone Receptor: Biochemistry, Molecular Biology, Physiology, and Pathophysiology*

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRENDO.2011.20

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24 August 2017

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