About: Four families with loss of function mutations of the thyrotropin receptor

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Four families with loss of function mutations of the thyrotropin receptor Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 01 December 1996

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 1996 (uk) im Dezember 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'avientu de 1996 (ast) scientific article published on 01 December 1996 (en)
publication date	wds:Q71857755-B8947216-8165-45C2-87FB-73FC5036CBC1
publication date	1996-12-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q71857755-201BD22C-04CC-43A4-A10F-EAB7C8F1B726
language of work or name	English
author name string	wds:Q71857755-2F7B5842-F850-4743-9F62-149035A9BAB5 wds:Q71857755-43F24260-C340-46C9-89D1-7DD2A35A2BD4 wds:Q71857755-5B9655D4-1CAA-4027-B87C-AD103B20A170 wds:Q71857755-85D82606-E753-4C85-8EEA-48E1AD989486 wds:Q71857755-863623C6-BAE6-4E6A-BB6B-CE70BE82E8F1 wds:Q71857755-87A35C51-8C78-4645-9518-FC09E9AD917C wds:Q71857755-A2D10DCA-92C2-4623-9FF2-1F33A2CECD05 wds:Q71857755-B166FA4F-2CD6-4C48-83E9-392DF26F25A5 wds:Q71857755-C2958320-E8EB-418F-B857-A1F7E0B0BF65 wds:Q71857755-FF6FA506-0AC8-4916-BE68-08416CC44DF2
author name string	Milgrom E Misrahi M Le Bouc Y Ghinea N Brauner R Houang M Carel JC Granier M Toublanc JE Boumedienne A
rdfs:label	Four families with loss of function mutations of the thyrotropin receptor (en) Four families with loss of function mutations of the thyrotropin receptor (nl)
skos:prefLabel	Four families with loss of function mutations of the thyrotropin receptor (en) Four families with loss of function mutations of the thyrotropin receptor (nl)
name	Four families with loss of function mutations of the thyrotropin receptor (en) Four families with loss of function mutations of the thyrotropin receptor (nl)
author	wds:Q71857755-AF35C284-BF17-4158-8108-F4A52D243577
author	Nicolas de Roux
title	wds:Q71857755-B01BAF83-23BB-4CA1-8FE5-59DEE745148A
title	Four families with loss of function mutations of the thyrotropin receptor (en)
page(s)	wds:Q71857755-3E31B4CD-1FA7-4264-B518-DE26FB123245
page(s)	4229-4235
instance of	wds:Q71857755-21EF6DCA-FDB2-4A89-9D8A-E7A9E1ABB70B
instance of	scholarly article
PubMed ID	wds:Q71857755-32B4E0EC-F862-4DE1-BEAA-C81417BC3155
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8954020
PubMed ID	8954020
published in	wds:Q71857755-6B3CCD48-3A53-4780-A898-8535AA641E50
published in	The Journal of Clinical Endocrinology and Metabolism
issue	wds:Q71857755-FDC59A56-EBF8-41DE-8BD7-6A7B98513410
volume	wds:Q71857755-69BA4F41-A5E9-4209-B570-C79949E3CEEB
issue	12
volume	81
DOI	wds:Q71857755-D414977F-CDF5-482D-9FC4-9F1C7038AB92
DOI	http://dx.doi.org/10.1210/JCEM.81.12.8954020
DOI	10.1210/JCEM.81.12.8954020
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71857755
is cites work of	Genetics of congenital hypothyroidism Thyrotropin receptor mutations in thyroid diseases TSH and Thyrotropic Agonists: Key Actors in Thyroid Homeostasis Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland The molecular causes of thyroid dysgenesis: a systematic review Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis The thyrotropin receptor hinge region as a surrogate ligand: identification of loci contributing to the coupling of thyrotropin binding and receptor activation Novel insights on thyroid-stimulating hormone receptor signal transduction A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor Structural-Functional Features of the Thyrotropin Receptor: A Class A G-Protein-Coupled Receptor at Work Thyrotropin (TSH) receptor residue E251 in the extracellular leucine-rich repeat domain is critical for linking TSH binding to receptor activation Relationship between thyrotropin receptor hinge region proteolytic posttranslational modification and receptor physiological function Occupancy of both sites on the thyrotropin (TSH) receptor dimer is necessary for phosphoinositide signaling The Activation Mechanism of Glycoprotein Hormone Receptors with Implications in the Cause and Therapy of Endocrine Diseases Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese Resistance to thyrotropin Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers Resistance to thyrotropin Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment Generation and characterization of a hypothyroidism rat model with truncated thyroid stimulating hormone receptor. Small-molecule thyrotropin receptor agonist activates naturally occurring thyrotropin-insensitive mutants and reveals their distinct cyclic adenosine monophosphate signal persistence Long-term outcome of loss-of-function mutations in thyrotropin receptor gene The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism. Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence? TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism
is cites work of	wds:Q34435693-BD1E5586-1D8A-46F2-9F23-A965C41B7F2E wds:Q33775572-B9AE3C99-D254-4909-AC96-226923B76AB9 wds:Q30401802-F401F139-0C17-49E3-94FD-C6F0E1648955 wds:Q37369111-E247BB62-73EF-4634-907F-903FC19A0028 wds:Q42027956-42EC8CFE-52C9-49D7-9AAF-62942B4C7645 wds:Q35225069-67D7B525-B598-48EC-8882-BBFCAC33330E wds:Q37203610-A61C0435-2B7A-42EE-9E26-F03E2481A0B0 wds:Q52430600-DD50BCBE-874E-4DA0-8365-4AFD3D83552E wds:Q35140849-8ADDF7F5-56EF-435E-BE84-D57E9DC93E38 wds:Q34942963-C55DEC6B-676E-4B7F-AB6C-E2E261BACC1D wds:Q38108710-8ED28E33-EEA4-4DB6-82FE-D3345399DBB2 wds:Q40089801-8E26BD5B-A8AF-40AC-8675-F160BF065FFB wds:Q80385518-B2D96671-FBFC-4CE5-9598-455AB4F43581 wds:Q27005599-D5E42167-4719-46CC-8ADA-705564B4C185 wds:Q35180492-984AD376-83BD-40F5-8FCA-156329E29CC6 wds:Q42436806-330AA724-A030-4571-9957-480A2F783811

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 170 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software