Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Drug
Enzyme
Compound
Query: EC:3.1.4.3 (
phospholipase C
)
18,461
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Thyroid stimulating hormone receptor
(
TSHR
) is a guanine nucleotide-binding protein-coupled seven-transmembrane-domain receptor that controls the differentiation, growth, and function of the thyroid gland through stimulation of adenylyl cyclase and
phospholipase C
pathways. Thyroid stimulating hormone (TSH) is the main
TSHR
ligand, and unliganded receptor remains silent due to the interaction of its large extracellular domain with the extracellular loops of the serpentine. The
TSHR
gene is highly mutagenic and constitutively active mutations have been extensively described. Naturally occurring
TSHR
-activating mutations can affect any part of the receptor, but most activating mutations affect the serpentine region, and the majority of these are located in the third intracellular loop or transmembrane domain six. We describe several simple and relatively cheap methods used in our laboratory to study constitutive
TSHR
mutations that include (1) screening of
TSHR
gene mutations in paraffin-embedded thyroid tissue samples, (2) measurement of
TSHR
constitutive activity in vitro, (3) measurement of
TSHR
expression at cell surface by flow cytometry analysis, (4) TSH binding to
TSHR
, and (5)
TSHR
phosphorylation analysis.
...
PMID:Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations. 2103 42
