About: Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

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

About: Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland 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 June 1997

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 1997 (ast) наукова стаття, опублікована в червні 1997 (uk) مقالة علمية نشرت في يونيو 1997 (ar) scientific article published on June 1997 (en)
publication date	wds:Q37369111-2828D74F-7D8A-4EE6-8FF4-4A5A1040700F
publication date	1997-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37369111-BA8704F0-4BB5-48DA-BB19-5BECE601BAD9
language of work or name	English
cites work	wds:Q37369111-01F08CCB-F8AE-4D82-8FD7-921AE0AC1CC7 wds:Q37369111-0A8852C4-6E43-4DE0-9561-B371AB635C0E wds:Q37369111-18422A6E-A936-4528-9FCD-9D45E0835B37 wds:Q37369111-1DFA0A6C-2EB8-4D09-9F57-EE9D4D56523A wds:Q37369111-1FFAE822-8309-4EAF-937F-922B0BB6F2FF wds:Q37369111-4BCCDE7C-76F8-44E6-A2AA-864D359CA5F3 wds:Q37369111-4BD1669D-FD9A-4F88-BBCA-81EE62CF636C wds:Q37369111-5088D5D9-88E2-4235-BCC1-82BF4910213E wds:Q37369111-5115D8C2-7F19-4969-BB6F-433CB2C07C33 wds:Q37369111-53DCEC8F-7326-4773-9F64-C4A0981CABB1 wds:Q37369111-5B64068D-FD3F-40BA-ABFE-342E567239B9 wds:Q37369111-6175A716-7F6C-40CA-805C-1366758A80D5 wds:Q37369111-64D25857-01F6-437F-B8BD-0415735BC648 wds:Q37369111-697BBFED-E9F3-402C-AB29-15F5E4119BE9 wds:Q37369111-6B4D9466-B0E6-44A6-A28D-E3D9980ACD13 wds:Q37369111-77C60243-6F21-4DF6-B9E8-F055FD37D818 wds:Q37369111-85EE4EF0-6050-431D-A569-9C4F31017853 wds:Q37369111-8BCF7F2F-4C99-4921-A243-FC704CBEB9CF wds:Q37369111-9373B57A-E25A-478D-BEAB-58C0DDB3D613 wds:Q37369111-94C0ECE6-9389-4CAF-86D2-FC2B111D77E8 wds:Q37369111-A72CB5F1-9171-41C6-BC99-693AAA5A11B2 wds:Q37369111-BA06947F-30DE-4339-A06D-9B6EBB379CDA wds:Q37369111-C0A058A1-56C6-4D92-8040-06CCEF2B1BC0 wds:Q37369111-C2395974-D243-4A9D-AB39-9F152C7E2B54 wds:Q37369111-CB489BDB-0C7B-486C-98D6-D7CDF2A09B0C wds:Q37369111-D9560D0F-7ED5-483C-A6A6-CE5529F989D5 wds:Q37369111-DF8A1ABB-BD78-497E-AB0D-84A3511EC931 wds:Q37369111-E247BB62-73EF-4634-907F-903FC19A0028 wds:Q37369111-E88126A1-CE37-4700-B14D-14EF9D3B2DFE wds:Q37369111-F78EDB32-C8E3-48AA-A66F-79CA1B8A2277 wds:Q37369111-F90D1158-07E6-4776-BE47-0AA40AA6698C
cites work	Familial unresponsiveness to thyrotropin by autosomal recessive inheritance Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness Congenital Hypothyroidism Associated with Thyrotropin Unresponsiveness and Thyroid Cell Membrane Alterations Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas Rapid accumulation of inositol trisphosphate reveals that agonists hydrolyse polyphosphoinositides instead of phosphatidylinositol Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary Thyroid-specific gene expression High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment. Interpretation of binding curves obtained with high receptor concentrations: practical aid for computer analysis. Molecular cloning of the thyrotropin receptor The thyrotropin (TSH) receptor transmembrane domain mutation (Pro556-Leu) in the hypothyroid hyt/hyt mouse results in plasma membrane targeting but defective TSH binding Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse Determination of thyroid volume by ultrasound from the neonatal period to late adolescence Engineering human glycoprotein hormone superactive analogues 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 Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism Cloned, stably expressed parathyroid hormone (PTH)/PTH-related peptide receptors activate multiple messenger signals and biological responses in LLC-PK1 kidney cells Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies Cloning, sequencing and expression of human TSH receptor Evidence for negative cooperativity among human thyrotropin receptors overexpressed in mammalian cells Four families with loss of function mutations of the thyrotropin receptor Inherited primary hypothyroidism in mice Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'-cyclic adenosine monophosphate signa Composite structure of the human thyrotropin receptor gene Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter Specific activation of the thyrotropin receptor by trypsin Evaluation and characterization of the hyt/hyt hypothyroid mouse. II. Abnormalities of TSH and the thyroid gland Congenital hypothyroidism with impaired thyroid response to thyrotropin Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism
author name string	wds:Q37369111-23BCA2FA-ABFF-4F37-8056-11CA827B90A0 wds:Q37369111-5ADCB2E2-1B46-476D-BFA6-56BA2F995DF0 wds:Q37369111-79968B0D-D0E7-4BED-AB5B-0C1B3E5171A5 wds:Q37369111-8B68181B-AB0B-44B9-8B72-7B42E6C4DCB7 wds:Q37369111-B09CC255-F071-4BCF-87C0-A87B17A0D96C
author name string	Vassart G Abramowicz MJ Duprez L Heinrichs C Parma J
rdfs:label	Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (en) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (nl) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (ast)
skos:prefLabel	Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (en) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (nl) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (ast)
name	Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (en)

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, 171 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software