Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases. (Q36672702)

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22 December 2019

review article

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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

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author

Giovanna Mantovani

series ordinal

2

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22 December 2019

3

Anna Spada

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22 December 2019

author name string

Andrea G Lania

series ordinal

1

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22 December 2019

publication date

1 December 2006

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Nature Clinical Practice Endocrinology and Metabolism

22 December 2019

published in

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22 December 2019

volume

2

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22 December 2019

page(s)

681-693

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22 December 2019

issue

12

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

22 December 2019

cites work

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Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene

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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

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

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Nephrogenic syndrome of inappropriate antidiuresis

21 January 2018

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

21 January 2018

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Diseases associated with the extracellular calcium-sensing receptor

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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Two G protein oncogenes in human endocrine tumors

21 January 2018

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Mammalian G proteins and their cell type specific functions

21 January 2018

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

21 January 2018

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Minireview: GNAS: normal and abnormal functions.

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The pathogenesis of the ovarian hyperstimulation syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1038/NCPENDMET0324

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

1 reference