(Q36672702)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

review article

1 reference

title

Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

G protein-coupled receptor

22 December 2019

main subject

0 references

author name string

Andrea G Lania

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

publication date

1 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

Nature Clinical Practice Endocrinology and Metabolism

22 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

page(s)

681-693

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17143315%20AND%20SRC:MED&resulttype=core&format=json

The repertoire of G-protein-coupled receptors in fully sequenced genomes

22 December 2019

cites work

1 reference

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Receptors, G proteins, and their interactions

21 January 2018

1 reference

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Multiple signaling states of G-protein-coupled receptors

21 January 2018

1 reference

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Inherited diseases involving g proteins and g protein-coupled receptors.

21 January 2018

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Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect

21 January 2018

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Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

21 January 2018

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Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene

21 January 2018

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Thyrotropin receptor-associated diseases: from adenomata to Graves disease

21 January 2018

1 reference

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Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

21 January 2018

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Molecular pathogenesis of euthyroid and toxic multinodular goiter

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical and molecular genetics of the human GnRH receptor.

21 January 2018

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An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms

21 January 2018

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Leydig-cell agenesis: a cause of male pseudohermaphroditism

21 January 2018

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A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

21 January 2018

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

21 January 2018

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Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

21 January 2018

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Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

21 January 2018

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Gastric inhibitory polypeptide-dependent cortisol hypersecretion--a new cause of Cushing's syndrome

21 January 2018

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A frameshift mutation in MC4R associated with dominantly inherited human obesity

21 January 2018

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Monogenic obesity in humans

21 January 2018

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Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function

21 January 2018

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Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Molecular and cellular defects in nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Nephrogenic syndrome of inappropriate antidiuresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Diseases associated with the extracellular calcium-sensing receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism

21 January 2018

1 reference

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Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Two G protein oncogenes in human endocrine tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Mammalian G proteins and their cell type specific functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Minireview: GNAS: normal and abnormal functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function

21 January 2018

1 reference

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The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Cell microarrays and RNA interference chip away at gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

G protein mutations in endocrine diseases

21 January 2018

1 reference

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Activating GNAS1 gene mutations in patients with premature thelarche.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Clinical, biochemical, and morphological correlates in patients bearing growth hormone-secreting pituitary tumors with or without constitutively active adenylyl cyclase

21 January 2018

1 reference

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Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

The G protein-coupled receptors: pharmacogenetics and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Genetic complexity of FSH receptor function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

G protein polymorphisms in hypertension, atherosclerosis, and diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

Association of a human G-protein beta3 subunit variant with hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

Absence of activating mutations in the GnRH receptor gene in human pituitary gonadotroph adenomas

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

The pathogenesis of the ovarian hyperstimulation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the Gs alpha gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021

Association of the G(s)alpha gene with essential hypertension and response to beta-blockade

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0324

7 January 2021