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A familial X-Y translocation: cytogenetic and molecular study

100%

Kusz K., Wojda A., Wisniewska M., Latos-Bielenska A., Jaruzelska J.

Journal of Applied Genetics

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2001

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tom 42

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nr 2

2

The 102-year old woman with translocation [7;12] and infertility in anamnesis

86%

Wojda A., Wolnik-Brzozowska D., Lubka M., Mossakowska M., Witt M.

Journal of Applied Genetics

|

2003

|

tom 44

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nr 3

3

Genotoxicity of inhalation anaesthetics: DNA lesions generated by sevoflurane in vitro and in vivo

86%

Szyfter K., Szulc R., Mikstacki A., Stachecki I., Rydzanicz M., Jaloszynski P.

Journal of Applied Genetics

|

2004

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tom 45

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nr 3

4

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta

72%

Benusiene E., Kucinskas V.

Journal of Applied Genetics

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2003

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tom 44

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nr 1

5

Molecular findings in Brazilian patients with osteogenesis imperfecta

72%

Reis F. C., Alexandrino F., Steiner C. E., Norato D. Y. J., Cavalcanti D. P., Sartorato E. L.

Journal of Applied Genetics

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2005

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tom 46

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nr 1

Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.

6

Manifestations of ageing at the cytogenetic level

72%

Wojda A., Witt M.

Journal of Applied Genetics

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2003

|

tom 44

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nr 3

7

Association of arylamine N-acetyltransferase [NAT1 and NAT2] genotypes with urinary bladder cancer risk

72%

Jaskula-Sztul R., Sokolowski W., Gajecka M., Szyfter K.

Journal of Applied Genetics

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2001

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tom 42

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nr 2

8

Increased risk of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele

72%

Strauss E., Waliszewski K., Gabriel M., Zapalski S., Pawlak A. L.

Journal of Applied Genetics

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2003

|

tom 44

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nr 1

9

Aging and longevity genes

72%

Jazwinski S. M.

Acta Biochimica Polonica

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2000

|

tom 47

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nr 2

The genetics of aging has made substantial strides in the past decade. This progress has been confined primarily to model organisms, such as filamentous fungi, yeast, nematodes, fruit flies, and mice, in which some thirty-five genes that determine life span have been cloned. These genes encode a wide array of cellular functions, indicating that there must be multiple mechanisms of aging. Nevertheless, some generalizations are already beginning to emerge. It is now clear that there are at least four broad physiological processes that play a role in aging: metabolic control, resistance to stress, gene dysregulation, and genetic stability. The first two of these at least are common themes that connect aging in yeast, nematodes, and fruit flies, and this convergence extends to caloric restriction, which postpones senescence and increases life span in rodents. Many of the human homologs of the longevity genes found in model organisms have been identified. This will lead to their use as candidate human longevity genes in population genetic studies. The urgency for such studies is great: The population is graying, and this research holds the promise of improvement in the quality of the later years of life.

10

GA733 genes expression in human gastrointestinal tumours

72%

Kitlinska J., Wojcierowski J., Dabrowski A., Paluszkiewicz P.

Journal of Applied Genetics

|

1995

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tom 36

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nr 3

Expression of GA733-1 and GA733-2 genes in gastrointestinal tumours was investigated. Twelve cases of colorectal and stomach cancers were analysed. The Northern blot and RT-PCR methods were used. The second method appeared to be much more sensitive and useful in these investigations. No expression of GA733-1 gene was found in the investigated cases. GA733-2 expression was observed in 83% of colon cancers (five to six analysed cases) and in 33% of stomach cancers (two to six analysed cases). No correlation was found between the expression and clinical properties of tumours. Moreover, in two cases the presence of GA733-2 mRNA was observed in the surrounding morphologically normal tissue. These results indicate that GA733-2 gene can be a good marker of colon but not stomach cancers.

11

Assessment of MMP-2 and MMP-9 expression in LPS stimulated LS180 cell line

72%

Kubiatowski T., Korzeniowska-Olszanska J., Rozynska K., Filip A., Marzec B., Gawlowicz M., Koczkodaj D., Wojcierowski J.

Bulletin of the Veterinary Institute in Puławy. Supplement

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2002

12

Modern human origins and prehistoric demography of Europe in light of the present-day genetic diversity

72%

Zietkiewicz E.

Journal of Applied Genetics

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2001

|

tom 42

|

nr 4

13

Limited pattern of TCR delta chain gene rearrangement on the RNA level in multiple sclerosis

72%

Nowak J., Januszkiewicz D., Pernak M., Hertmanowska H., Nowicka-Kujawska K., Rembowska J., Lewandowski K., Nowak T., Wender M.

Journal of Applied Genetics

|

2001

|

tom 42

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nr 4

14

Topography of a new repetitive DNA family on hominoid acrocentric chromosomes

58%

Blin N., Wundrack I., Holzmann K., Suijkerbuijk R., Schmitt H., Mullenbach R.

Bulletin of the Polish Academy of Sciences. Biological Sciences

|

1993

|

tom 41

|

nr 4

15

Nuclear accumulation of nerve growth factor and its receptor in meningioma and glioma tumour cells

58%

Jagodzinski P. P., Kaczmarski W., Zukiel R.

Bulletin of the Polish Academy of Sciences. Biological Sciences

|

1992

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tom 40

|

nr 2

16

Molecular follow up of donor lymphocyte infusion in CML children after allogeneic bone marrow transplantation

58%

Ladon D., Pieczonka A., Jolkowska J., Wachowiak J., Witt M.

Journal of Applied Genetics

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2001

|

tom 42

|

nr 4

17

Evaluation of epidermal growth factor interaction with cell surface and its accumulation in nuclei of lung carcinoma, epidermiod carcinoma and melanoma cell lines

58%

Jagodzinski P. P., Kaczmarski W., Trzeciak W. H.

Bulletin of the Polish Academy of Sciences. Biological Sciences

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1992

|

tom 40

|

nr 4

18

Diagnostics and screening of cystic fibrosis

58%

Grade K., Grunewald I., Urner U., Coutelle C., Graupner I., Jung U., Bittner P., Nebelung W., Leucht B.

Bulletin of the Polish Academy of Sciences. Biological Sciences

|

1993

|

tom 41

|

nr 4

19

II Polski Kongres Genetyki

51%

Rakoczy-Trojanowska M.

Agricola. Pismo SGGW

|

2007

|

nr 69

20

Molecular diagnosis of human diseases based on direct analysis of gene transcripts

51%

Slomski R., Kwiatkowska J.

Bulletin of the Polish Academy of Sciences. Biological Sciences

|

1993

|

tom 41

|

nr 2

Ograniczanie wyników

A familial X-Y translocation: cytogenetic and molecular study

The 102-year old woman with translocation [7;12] and infertility in anamnesis

Genotoxicity of inhalation anaesthetics: DNA lesions generated by sevoflurane in vitro and in vivo

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta

Molecular findings in Brazilian patients with osteogenesis imperfecta

Manifestations of ageing at the cytogenetic level

Association of arylamine N-acetyltransferase [NAT1 and NAT2] genotypes with urinary bladder cancer risk

Increased risk of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele

Aging and longevity genes

GA733 genes expression in human gastrointestinal tumours

Assessment of MMP-2 and MMP-9 expression in LPS stimulated LS180 cell line

Modern human origins and prehistoric demography of Europe in light of the present-day genetic diversity

Limited pattern of TCR delta chain gene rearrangement on the RNA level in multiple sclerosis

Topography of a new repetitive DNA family on hominoid acrocentric chromosomes

Nuclear accumulation of nerve growth factor and its receptor in meningioma and glioma tumour cells

Molecular follow up of donor lymphocyte infusion in CML children after allogeneic bone marrow transplantation

Evaluation of epidermal growth factor interaction with cell surface and its accumulation in nuclei of lung carcinoma, epidermiod carcinoma and melanoma cell lines

Diagnostics and screening of cystic fibrosis

II Polski Kongres Genetyki

Molecular diagnosis of human diseases based on direct analysis of gene transcripts