Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.
|
20929407 |
2010 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report a male infant with nonautoimmune hyperthyroidism due to an activating germline TSHR mutation (A623V), whose clinical picture started in the newborn period with severe hyperthyroidism.
|
21274318 |
2010 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Constitutively activating germline mutations of the thyrotropin receptor (TSHR) gene have been identified as a molecular cause of hereditary nonautoimmune hyperthyroidism.
|
18025759 |
2007 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of nonautoimmune hyperthyroidism with TSH receptor mutations is lower than that of latent Graves' disease in TRAb-negative patients with hyperthyroidism.
|
24279482 |
2014 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report a novel constitutive active mutation (M626I) in TM6 of the TSH receptor (TSHR), identified in affected members of a family with nonautoimmune hyperthyroidism.
|
16339276 |
2006 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first report of a germline mutation of TSHR causing sporadic congenital nonautoimmune hyperthyroidism in a Japanese patient.
|
16960398 |
2006 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A review of all previously reported cases of NAH due to an activating TSHR germline mutation showed that the mean duration of gestation in these patients was significantly lower than in patients with inactivating TSHR mutations causing congenital hypothyroidism (35.8 weeks vs. 39.4 weeks, P = 0.003).
|
15163335 |
2004 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary (familial) nonautoimmune hyperthyroidism (FNAH) is caused by activating thyroid-stimulating hormone (thyrotropin) receptor (TSHR) germline mutations.
|
17696839 |
2007 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we describe the molecular mechanism of constitutive TSH receptor (TSHR) activation in an Austrian family with three generations of familial nonautoimmune hyperthyroidism.
|
24947036 |
2014 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neonates with persistent nonautoimmune hyperthyroidism should be investigated for TSHR germline mutations.
|
9360555 |
1997 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of familial or sporadic congenital nonautoimmune hyperthyroidism (OMIM: 609152) (Nat Genet 7:396-401, 1994; N Engl J Med 332:150-154, 1995; Acta Endocrinol (Copenh) 100:512-518, 1982).
|
22371259 |
2012 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, seven cases of familial and six cases of sporadic nonautoimmune hyperthyroidism have been described associated with 13 different TSHR germline mutations, with a variable clinical course.
|
10482366 |
1999 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline thyrotropin receptor (TSHR) mutations are associated with sporadic congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism.
|
21190443 |
2011 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline activating mutations of the thyrotropin receptor (TSHR) gene have been considered as the only known cause of sporadic nonautoimmune hyperthyroidism in the pediatric population.
|
20146656 |
2010 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism.
|
16187920 |
2005 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, sporadic TSH receptor germline mutations have been identified in 3 children with severe congenital nonautoimmune hyperthyroidism.
|
8981020 |
1996 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations.
|
18466076 |
2008 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas.
|
20846293 |
2010 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.
|
11549687 |
2001 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism.
|
9398746 |
1997 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the TSH receptor (TSH-R) have been reported to result in toxic adenomas, multinodular goiters, sporadic neonatal hyperthyroidism, and familial autosomal dominant nonautoimmune hyperthyroidism.
|
10199795 |
1999 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
|
8636266 |
1996 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism.
|
16756474 |
2006 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a patient in whom a TSHR mutation leads to nonautoimmune hyperthyroidism due to a mutation that constitutively activates the Gs signaling pathway but additionally completely inhibits the Gq/11 pathway.
|
20501679 |
2010 |
Hyperthyroidism, Nonautoimmune
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val).
|
16260895 |
2005 |