Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism (Q74034601)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427897%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427897%20AND%20SRC:MED&resulttype=core&format=json

congenital hyperthyroidism

8 November 2019

main subject

1 reference

6

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8 November 2019

author name string

K O Schwab

1

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8 November 2019

M Gerlich

2

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8 November 2019

M Broecker

3

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8 November 2019

P Söhlemann

4

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8 November 2019

M Derwahl

5

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8 November 2019

language of work or name

English

0 references

publication date

1 December 1997

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The Journal of Pediatrics

8 November 2019

published in

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8 November 2019

volume

131

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8 November 2019

issue

6

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8 November 2019

page(s)

899-904

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Fetal and neonatal hyperthyroidism and hypothyroidism due to maternal TSH receptor antibodies

8 November 2019

cites work

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Hereditary aspects of Graves' disease in infancy and childhood

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Congenital graves disease. Four familial cases with long-term follow-up and perspective

7 January 2021

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Familial hyperthyroidism without evidence of autoimmunity

7 January 2021

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Familial hyperthyroidism including two siblings with neonatal Graves' disease

7 January 2021

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Behaviour of thyroid tissue from patients with Graves' disease in nude mice

7 January 2021

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Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism

7 January 2021

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A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism

7 January 2021

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Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene

7 January 2021

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Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia

7 January 2021

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Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors

7 January 2021

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Two G protein oncogenes in human endocrine tumors

7 January 2021

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Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

7 January 2021

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Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosph

7 January 2021

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Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid

7 January 2021

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Somatic and germline mutations of the TSH receptor gene in thyroid diseases.

7 January 2021

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Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor

7 January 2021

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Measurement of stimulating TSH receptor antibodies in sera of patients with Graves' disease by a recombinant TSH receptor bioassay

7 January 2021

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Molecular mechanisms of membrane receptor desensitization.

7 January 2021

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Dual activation by thyrotropin of the phospholipase C and cyclic AMP cascades in human thyroid

7 January 2021

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A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty

7 January 2021

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Propylthiouracil in human milk. Revision of a dogma

7 January 2021

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10.1016/S0022-3476(97)70040-4

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9427897%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference