Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. - Wikidata - awgldk - TriplyDB

Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

http://www.wikidata.org/entity/Q37364587

about

One hormone, two actions: anti- and pro-inflammatory effects of glucocorticoids ACTH Receptor (MC2R) Specificity: What Do We Know About Underlying Molecular Mechanisms?Early diagnosis in familial glucocorticoid deficiency.Isolated cortisol deficiency: a rare cause of neonatal cholestasis.

P2860

Q26830948-134386E0-E9CE-4D21-806C-B725B72EC668 Q38715577-79FC633F-CC8D-4466-B03A-E019CB4F8E68 Q40231745-B963AD15-BAF2-437A-A01C-327057995F7A Q41334798-59FF7229-F39D-407A-881C-BE8816275B90

P2860

Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

http://www.wikidata.org/entity/Q37364587

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 23 September 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Familial glucocorticoid defici ...... ACTH receptor: a case report.

@en

Familial glucocorticoid defici ...... ACTH receptor: a case report.

@nl

type

label

Familial glucocorticoid defici ...... ACTH receptor: a case report.

@en

Familial glucocorticoid defici ...... ACTH receptor: a case report.

@nl

prefLabel

Familial glucocorticoid defici ...... ACTH receptor: a case report.

@en

Familial glucocorticoid defici ...... ACTH receptor: a case report.

@nl

P1433

Q37364587-CEF46AA4-FB04-43D3-9D04-FA3E701C8176

P1476

Q37364587-7716E2B0-C61E-4904-963B-10B7A8D5AC81

P2093

Q37364587-0B1B09FC-C066-49C7-9EB3-3E41D3DB5DD8

Q37364587-45A8F533-6BA4-4CD3-AF5E-099A2056ABD3

Q37364587-CDA2C594-F052-42E6-A467-6945D4AB92AD

Q37364587-E722F12D-191F-4267-8CDC-8005CB5DD81A

P2860

Q37364587-0ECCD2AF-5338-4761-B2DC-9FF6325762B9

Q37364587-1C3277EF-F7D3-4092-934C-AA7169C66B20

Q37364587-1E7EF999-C931-4C13-8AC3-AAE5E5760A10

Q37364587-3599B331-264B-47F1-A3C8-99AAC8DF7D7D

Q37364587-4C1EB4EB-BE91-489B-82EA-81F21F4B29FA

Q37364587-9C4590EC-99D2-4DCA-AD4E-6ECB6F1CACF0

Q37364587-FE469D5F-0BFB-4702-B662-4CA337844558

P304

Q37364587-158DA7F1-1C42-4254-B790-EFDC552F23E9

P31

Q37364587-5fef5449-9337-44a3-a687-0f6fd9edaaff

Q37364587-8F5E2CE4-2306-451B-9F8E-EF1A49827AF5

P356

Q37364587-1A117D3D-538F-40CE-9F58-73FCA1A00985

P433

Q37364587-34BF6CE0-4C2F-4E81-9F3A-04FA0AAE839B

P478

Q37364587-94A58B1D-1C2B-4D11-8862-7F290ABE8685

P577

Q37364587-C74AEA2D-C945-4CE1-8277-BD80FEEDD8F6

P5875

Q37364587-8C7FA61C-AB65-4C6B-804C-258264AADA60

P698

Q37364587-B34962AC-E9EB-4488-B756-92360BD2386F

P932

Q37364587-7F01D772-8C13-4DEF-95D2-4DF86A4425E3

P356

JKMS.2009.24.5.979

P1433

Journal of Korean Medical Science

P1476

Familial glucocorticoid defici ...... ACTH receptor: a case report.

@en

P2093

Chan Jong Kim

http://www.w3.org/2001/XMLSchema#string

Gu Hwan Kim

http://www.w3.org/2001/XMLSchema#string

Han Wook Yoo

http://www.w3.org/2001/XMLSchema#string

Young Jong Woo

http://www.w3.org/2001/XMLSchema#string

P2860

The cloning of a family of genes that encode the melanocortin receptors

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

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

Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.

P304

979-981

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.3346/JKMS.2009.24.5.979

http://www.w3.org/2001/XMLSchema#string

P433

5

http://www.w3.org/2001/XMLSchema#string

P478

24

http://www.w3.org/2001/XMLSchema#string

P577

2009-09-23T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

26861590

http://www.w3.org/2001/XMLSchema#string

P698

19795005

http://www.w3.org/2001/XMLSchema#string

P932

2752790

http://www.w3.org/2001/XMLSchema#string