Genomes and Genes
Country: The Netherlands
- Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresisH Bikker
Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
Hum Mutat 6:9-16. 1995..Nine TIOD patients from five families were compound heterozygotes and six patients from four families were homozygous for one of the mentioned mutations in the TPO gene...
- Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defectsH Bikker
Academic Medical Center, University of Amsterdam, Emma Children s Hospital, The Netherlands
J Clin Endocrinol Metab 82:649-53. 1997..The only mutant yielding TPO with enzymatic activity was G 1858 A (Gly 590 Ser). However, the mutation could affect splicing of TPO messenger RNA, leading to inactive TPO, because it is located at the exon 10/intron 10 border...
- Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidismB Bakker
Academic Medical Center, University of Amsterdam, Emma Children s Hospital AMC, Division of Pediatric Endocrinology, 1100 DE Amsterdam, The Netherlands
J Clin Endocrinol Metab 86:1164-8. 2001..This shows that partial maternal isodisomy for chromosome 2p (2pter - 2p12) is compatible with a minimal influence on normal development...
- Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)B Bakker
Academic Medical Center, University of Amsterdam, Emma Children s Hospital AMC, Division of Pediatric Endocrinology, The Netherlands
J Clin Endocrinol Metab 85:3708-12. 2000..Mutations in the TPO gene result in total iodide organification defects...
- Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase geneH Bikker
Academic Medical Center, University of Amsterdam, The Netherlands
J Clin Endocrinol Metab 81:2076-9. 1996..The mutation introduces a premature termination signal in exon 10 of the TPO gene, preventing the synthesis of enzymatic active peroxidase...
- The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin geneP H Meijerink
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
Eur J Biochem 254:297-303. 1998..Human slap is located in the candidate region for a recessive demyelinating neuropathy on chromosome 8q24, but sequence analysis failed to identify mutations, suggesting that it is not the gene for this disease...
- Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzymeP A Bolhuis
Academic Medical Center, Department of Neurology, Amsterdam, The Netherlands
Biochim Biophys Acta 1182:142-6. 1993..These results show that the patient's is a genetic compound, and that the lability of beta-hexosaminidase found in this form of Sandhoff disease is based on a single nucleotide transition...
- A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker
Laboratory of Genetic Metabolic Diseases and Department of Clinical Genetics Pediatrics Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Hum Mutat 27:640-3. 2006..This is the first report of methylmalonyl-CoA epimerase deficiency, thereby unequivocally demonstrating the biochemical role of this enzyme in human metabolism...
- A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defectC L Santos
Thyroid Unit, Division of Endocrinology, University of Sao Paulo Medical School, Sao Paulo, Brazil
Clin Endocrinol (Oxf) 51:165-72. 1999..To screen and subsequently sequence the TPO gene for mutations in patients with congenital goitre, hypothyroidism and evidence for an organification defect (positive perchlorate discharge test)...
- A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidismH Bikker
Children s Hospital EKZ, het Kinder AMC, Amsterdam, The Netherlands
J Clin Endocrinol Metab 79:248-52. 1994..Both parents of the patient are heterozygous for the same duplication, confirming the recessive mode of inheritance of the mutation...