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1

Genetic basis of neural tube defects. I. Regulatory genes for the neurulation process

100%
Gos M., Szpecht-Potocka A.
Journal of Applied Genetics
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2002
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vol. 43
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issue 3
343-350
EN
Neural tube defects (NTD) together with cardiovascular system defects are the most common malformations in the Polish population (2.05-2.68/1000 newborns). They arise during early embryogenesis and are caused by an improper neural groove closure during the neurulation process. NTD can arise from the influence of specific environmental factors on the foetus. The genetic factor is also very important, because NTDs have multigenetic conditioning. It was suggested that genes connected with the regulation of neurulation could also be involved in NTD aetiology, especially when their deletion or modification leads to neural tube defects in the mouse model. Examples are genes from the PAX family, T (Brachyury), BRCA1 and PDGFRA genes.
2

Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism

100%
Gos M., Szpecht-Potocka A.
Journal of Applied Genetics
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2002
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vol. 43
|
issue 4
511-524
EN
Effective supplementation with folate, which prevents neural tube defect (NTD) occurrence, and high homocysteine levels in the blood of NTD children?s mothers suggest that genes involved in folate and homocysteine metabolism can be involved in NTD aetiology. Genes encoding methylenetetrahydrofolate reductase (MTHFR) or methylenetetrahydrofolate dehydrogenase (MTHFD) belong to the first group. Genes encoding methionine synthase (MTR), its regulator ? methionine synthase reductase (MTRR) and also cystathionine synthase (CBS) can be included in the second group. We present a current list of the folate and homocysteine metabolism genes that are known to be involved in NTD and pay special attention to primary and secondary NTD prevention.
3

Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects

81%
Gos M., Sliwerska E., Szpecht-Potocka A.
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issue 3
363-368
EN
Neural tube defects (NTDs) are a common cause of disability or death of new-borns, but the aetiology and genetic background of this disease are still poorly understood. Therefore, it was decided to determine the conditions for the identification of several polymorphisms and to perform a preliminary study on Polish NTD patients and their parents. According to the results of this study, the genetic predisposition to NTD can be correlated with the 677TT genotype in the MTHFR gene, 677CT/1298AC haplotype (the MTHFR gene), 2756G allele in the MTR gene, 66AG variant and minisatellite sequence with 5 or 10 repeats in intron 6 of the MTRR gene. The 530GG and TIVS7-2/TIVS7-2 genotypes in the T gene could also be considered as a risk factor for NTD. The analysis also revealed no correlation between neurulation disturbances and A4956G and A1186G mutations in the BRCA1 gene and the 844ins68bp in CBS gene. Although a correlation was found of some molecular markers with NTD, an additional examination should be conducted on more numerous groups to obtain statistically significant results.
4

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2

81%
Laniewski-Wollk M., Gos M., Koziarski A., Szpecht-Potocka A.
Journal of Applied Genetics
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2008
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vol. 49
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issue 3
297-300
EN
Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 ? bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c.1001_1002insG, c.1029_1030insCC, c.774_778dupGAATG). In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation. The molecular defects in sporadic cases of NF2 are still being discussed.
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