Acromegaly
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The sequence and functioning analyses showed the same expression of TRH-R mRNA in the pituitary adenomas as that in the normal pituitaries, indicating that 1) some adenomas of patients with acromegaly express an intact and functional TRH-R, and that 2) the paradoxical response of GH secretion to TRH found in the patients might be a direct effect of TRH on TRH-R expressed in the adenoma.
|
8396925 |
1993 |
Adenoma
|
0.030 |
AlteredExpression
|
group |
BEFREE |
The ratio of plasma peak GH induced by TRH administration to the basal level of plasma GH in the patients with acromegaly correlated positively with the level of TRHR-1 mRNA expression in their GH-producing adenomas (r = 0.620, P = 0.0179).
|
11298082 |
2001 |
Adenoma
|
0.030 |
AlteredExpression
|
group |
BEFREE |
However, there was no significant correlation between TRHR gene expression and responsiveness to PRL or gonadotropins to TRH administration in PRL cell adenomas (chi2 = 0.16, p = 0.87) or gonadotroph cell adenomas (chi2 = 0.0006, p = 1), respectively.
|
14599121 |
2003 |
Adenoma
|
0.030 |
AlteredExpression
|
group |
BEFREE |
The sequence and functioning analyses showed the same expression of TRH-R mRNA in the pituitary adenomas as that in the normal pituitaries, indicating that 1) some adenomas of patients with acromegaly express an intact and functional TRH-R, and that 2) the paradoxical response of GH secretion to TRH found in the patients might be a direct effect of TRH on TRH-R expressed in the adenoma.
|
8396925 |
1993 |
Adenoma
|
0.030 |
Biomarker
|
group |
LHGDN |
However, there was no significant correlation between TRHR gene expression and responsiveness to PRL or gonadotropins to TRH administration in PRL cell adenomas (chi2 = 0.16, p = 0.87) or gonadotroph cell adenomas (chi2 = 0.0006, p = 1), respectively.
|
14599121 |
2003 |
Autism Spectrum Disorders
|
0.010 |
Biomarker
|
disease |
BEFREE |
Homozygosity mapping uncovered DPP4, TRHR, and MLF1 as novel candidate susceptibility genes for ASD in the Lebanese.
|
28358038 |
2017 |
Central hypothyroidism
|
0.310 |
Biomarker
|
disease |
CTD_human |
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.
|
9141550 |
1997 |
Central hypothyroidism
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.
|
28419241 |
2017 |
Coarse facial features
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Columnar Cell Hyperplasia of the Breast
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH.
|
28515030 |
2017 |
Congenital central hypothyroidism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained.
|
27603907 |
2016 |
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges.
|
22851492 |
2012 |
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Congenital hypothyroidism.
|
20537182 |
2010 |
Congenital exomphalos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital Hypothyroidism
|
0.210 |
Biomarker
|
disease |
MGD |
|
|
|
Congenital Hypothyroidism
|
0.210 |
GeneticVariation
|
disease |
BEFREE |
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.
|
26735259 |
2016 |
Constipation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dyssomnias
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Endemic Cretinism
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
Feeding difficulties
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized Thyroid Hormone Resistance
|
0.300 |
Biomarker
|
disease |
CTD_human |
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.
|
9141550 |
1997 |
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Growth delay
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Growth Hormone-Secreting Pituitary Adenoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We cloned a human thyrotropin-releasing hormone receptor (TRH-R) gene and its pituitary cDNA, and examined whether TRH-R mRNA may be expressed and function in the GH-secreting pituitary adenomas of patients with acromegaly.
|
8396925 |
1993 |