goiter/proline

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Proline homozygosity in codon 72 of p53 is a factor of susceptibility for thyroid cancer.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

A common germline polymorphism of p53 gene produces an Arginine to Proline change at aminoacid position 72. The resulting codon 72 variants have been reported associated with tumor susceptibility since they reduce p53 ability to activate apoptosis. Codon 72 polymorphism may play a role in subside

A heritable point mutation in an extracellular domain of the TSH receptor involved in the interaction with Graves' immunoglobulins.

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Ingia / Ingia

The TSH receptor (TSHR) is the central antigen in Graves' disease. Variant receptor proteins, arising from mutations in the TSHR gene, may play a role in the pathogenesis of the disease. Therefore, we analysed the TSHR from a 38-year-old patient affected with autoimmune hyperthyroidism, diffuse

Determination of serum thyroxine enantiomers in patients by liquid chromatography with a chiral mobile phase.

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Ingia / Ingia

A chromatographic method for the separation and determination of D- and L-thyroxine enantiomers (D-, and L-T4) in human serum with a chiral ligand ion-exchange system using a chiral mobile phase additive and a silica column was established. An aqueous eluent containing L-proline (L-pro) sufficiently

Studies of the congenitally goitrous sheep. Composition and metabolism of goitrous thyroid tissue.

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Ingia / Ingia

1. Normal and congenitally goitrous thyroid tissue was examined to identify the defective mechanism in the goitrous glands. 2. The uptake of [(131)I]iodide from the blood stream into the goitrous glands (average 74.9%) was significantly greater than normal (average 43.5%; P < 0.005), as was the rate

Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.

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Ingia / Ingia

We report the abnormal albumin in members of a Thai family that presented with high serum total T3 but not T4 when measured by radioimmunoassay. In contrast, total T3 values were very low when measured by ELISA and chemiluminescence. The subjects have no goiter, and clinically euthyroid. Their serum

A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.

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Ingia / Ingia

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. To date, all descriptions of such mutations, whether somatic or genomic, have been

The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules.

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Ingia / Ingia

OBJECTIVE To evaluate the detection possibility of TSH receptor gene mutation within the third cytoplasmic loop and the sixth transmembrane domain in the cytological material obtained by means of fine needle biopsy of autonomous and non-autonomous nodules. METHODS The study has been carried out in

Increased expression of PIN1 gene in papillary thyroid carcinoma.

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Ingia / Ingia

BACKGROUND Peptidyl-prolyl cis/trans isomerase (Pin1), encoded by PIN1 gene with locus in chromosome 19p13, is an enzyme that catalytically induces conformational changes in proteins after phosphorylation on serine or threonine residues preceding proline (pSer/Thr-Pro motifs); in this way, it has an

A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.

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Ingia / Ingia

Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone (TH), is linked to mutations in the thyroid hormone receptor (TR) beta gene. We report a new family with a heretofore unreported mutation, P247L. The proposita, a 31-year-old female,

Ability of monoclonal antibodies to the thyrotropin receptor to increase collagen synthesis in human fibroblasts: an assay which appears to measure exophthalmogenic immunoglobulins in Graves' sera.

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Ingia / Ingia

Immunoglobulin G (IgG) preparations from 17 of 20 hyperthyroid patients with Graves' ophthalmopathy stimulated collagen biosynthesis in human fibroblasts, as measured by [3H]proline incorporation. This activity was not associated with thyroid-stimulating antibody (TSAb) activity in a thyroid cell

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

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Ingia / Ingia

BACKGROUND The autosomal recessive Pendred's syndrome is defined by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the Pendred's syndrome (PDS) gene that encodes pendrin, a chloride/iodide transporter expressed in the thyroid, the inner

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