Matches in UGent Biblio for { <https://biblio.ugent.be/publication/747356#aggregation> ?p ?o. }
Showing items 1 to 37 of
37
with 100 items per page.
- aggregation classification "A1".
- aggregation creator B328377.
- aggregation creator B328378.
- aggregation creator B328379.
- aggregation creator B328380.
- aggregation creator B328381.
- aggregation creator B328382.
- aggregation creator B328383.
- aggregation creator person.
- aggregation date "2008".
- aggregation format "application/pdf".
- aggregation hasFormat 747356.bibtex.
- aggregation hasFormat 747356.csv.
- aggregation hasFormat 747356.dc.
- aggregation hasFormat 747356.didl.
- aggregation hasFormat 747356.doc.
- aggregation hasFormat 747356.json.
- aggregation hasFormat 747356.mets.
- aggregation hasFormat 747356.mods.
- aggregation hasFormat 747356.rdf.
- aggregation hasFormat 747356.ris.
- aggregation hasFormat 747356.txt.
- aggregation hasFormat 747356.xls.
- aggregation hasFormat 747356.yaml.
- aggregation isPartOf urn:issn:0021-972X.
- aggregation language "eng".
- aggregation title "Molecular Characterization of Iodotyrosine Dehalogenase Deficiency in Patients with Hypothyroidism".
- aggregation abstract "Context: The recent cloning of the human iodotyrosine deiodinase (IYD) gene enables the investigation of iodotyrosine dehalogenase deficiency, a form a primary hypothyroidism resulting from iodine wasting, at the molecular level. Objective: In the current study, we identify the genetic basis of dehalogenase deficiency in a consanguineous family. Results: Using HPLC tandem mass spectrometry, we developed a rapid, selective, and sensitive assay to detect 3-monoiodo-L-tyrosine and 3,5-diodo-L-tyrosine in urine and cell culture medium. Two subjects from a presumed dehalogenase-deficient family showed elevated urinary 3-monoiodo-L-tyrosine and 3,5-diodo-L-tyrosine levels compared with 57 normal subjects without thyroid disease. Subsequent analysis of IYD revealed a homozygous missense mutation in exon 4 (c.658G>A p.Ala220Thr) that co-segregates with the clinical phenotype in the family. Functional characterization of the mutant iodotyrosine dehalogenase protein showed that the mutation completely abolishes dehalogenase enzymatic activity. One of the heterozygous carriers for the inactivating mutation recently presented with overt hypothyroidism indicating dominant inheritance with incomplete penetration. Screening of 100 control alleles identified one allele positive for this mutation, suggesting that the c.658G>A nucleotide substitution might be a functional single nucleotide polymorphism. Conclusions: This study describes a functional mutation within IYD, demonstrating the molecular basis of the iodine wasting form of congenital hypothyroidism. This familial genetic defect shows a dominant pattern of inheritance with incomplete penetration.".
- aggregation authorList BK619474.
- aggregation endPage "4901".
- aggregation issue "12".
- aggregation startPage "4894".
- aggregation volume "93".
- aggregation aggregates 825778.
- aggregation isDescribedBy 747356.
- aggregation similarTo jc.2008-0865.
- aggregation similarTo LU-747356.