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Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type.
The glucocorticoid receptor (GR or GCR) also known as NR3C1 (nuclear receptor subfamily 3, group C, member 1) is the receptor to which cortisol and other glucocorticoids bind. The GR is expressed in almost every cell in the body and regulates genes controlling the development , metabolism , and immune response .
Glucocorticoid deficiency can be caused by inherited genetic disorders that affect the production of cortisol in the adrenal glands, such as familial glucocorticoid deficiency (FGD). [3] FGD is a group of monogenic recessive disorders caused by disease-causing variants in genes involved in cortisol biosynthesis. [ 4 ]
The mutations in the MRAP gene caused the congenital disorder familial glucocorticoid deficiency type 2 (FGD-2). FGD-2 is an autosomal recessive disease with early childhood onset of recurrent infections, hypoglycaemia, skin hyperpigmentation, and failure to thrive due to low glucocorticoids levels. If left untreated, it could be fatal.
Glucocorticoids have numerous non-stress-related functions as well, and glucocorticoid concentrations can increase in response to pleasure or excitement. [4] Various synthetic glucocorticoids are available; these are widely utilized in general medical practice and numerous specialties , either as replacement therapy in glucocorticoid deficiency ...
A hormone response element (HRE) is a short sequence of DNA within the promoter of a gene, that is able to bind to a specific hormone receptor complex and therefore regulate transcription. [1] The sequence is most commonly a pair of inverted repeats separated by three nucleotides, which also indicates that the receptor binds as a dimer .
301 16952 Ensembl ENSG00000135046 ENSMUSG00000024659 UniProt P04083 Q5T3N0 P10107 RefSeq (mRNA) NM_000700 NM_010730 RefSeq (protein) NP_000691 NP_034860 Location (UCSC) Chr 9: 73.15 – 73.17 Mb Chr 19: 20.35 – 20.37 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Annexin A1, also known as lipocortin I, is a protein that is encoded by the ANXA1 gene in humans. Function Annexin A1 ...
Myocilin, trabecular meshwork inducible glucocorticoid response (TIGR), also known as MYOC, is a protein which in humans is encoded by the MYOC gene. [ 5 ] [ 6 ] Mutations in MYOC are a major cause of glaucoma .