(Q41521363)

2 October 2017

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title

Inborn errors of signal transduction: mutations in G proteins and G protein-coupled receptors as a cause of disease (English)

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G protein-coupled receptor

2 October 2017

main subject

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author name string

Spiegel AM

series ordinal

1

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2 October 2017

publication date

1 June 1997

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Journal of Inherited Metabolic Disease

2 October 2017

published in

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2 October 2017

volume

20

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2 October 2017

issue

2

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2 October 2017

page(s)

113-121

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A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases

2 October 2017

cites work

1 reference

12 December 2020

Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.

1 reference

12 December 2020

Defects in G protein-coupled signal transduction in human disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Ulcerative colitis and adenocarcinoma of the colon in G alpha i2-deficient mice.

1 reference

12 December 2020

Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

G protein-coupled receptor structure and function: the impact of disease-causing mutations

1 reference

12 December 2020

Heterotrimeric G proteins: organizers of transmembrane signals

1 reference

12 December 2020

Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.

1 reference

12 December 2020

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

1 reference

12 December 2020

Endothelin receptor-mediated signaling in hirschsprung disease.

1 reference

12 December 2020

Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality

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12 December 2020

Two G protein oncogenes in human endocrine tumors

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12 December 2020

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

1 reference

12 December 2020

Molecular biology of diabetes insipidus

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005393501786

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Dimensions Publication ID

2 October 2017

1010476565

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1 reference