Wyniki wyszukiwania

1

On the significance of recourrent chromosome aberrations and gene fusions and other rearranged genes in soft tissue tumors

100%

Limon J.

Acta Biochimica Polonica

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2006

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tom 53

|

nr Supplement 1

2

The magic human 46 chromosomes were immortalised on a bronze plaque at Lund University in Sweden

100%

Limon J.

Journal of Applied Genetics

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2004

|

tom 45

|

nr 1

3

Artykuł dostępny w postaci pełnego tekstu - kliknij by otworzyć plik

The effect of cacodylate buffer on morphological differentiation of human chromosomes

63%

Beil B., Limon J.

Genetica Polonica

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1975

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tom 16

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nr 1

4

Nerwiak zarodkowy [neuroblastoma] - znaczenie wynikow badan cytogenetycznych i molekularnych w ustaleniu strategii leczenia i rokowania

63%

Lipska B. S., Limon J.

Postępy Biologii Komórki

|

2005

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tom 32

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nr 1

59-76

5

Zjawisko asymetrii bocznej heterochromatyny konstytutywnej chromosomów metafazowych człowieka

63%

Limon J., Nedoszytko B.

Postępy Biologii Komórki

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1988

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tom 15

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nr 2

6

Use the corneal epithelium for genetic studies in frogs (Ranidae)

63%

Limon J., Lawinski L.

Genetica Polonica

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1972

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tom 13

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nr 1

7

An analysis of satellite associations formation by cytologic Ag-NOR variants of human chromosomes

51%

Hubner H., Limon J., Trzepizur K.

Genetica Polonica

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1991

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tom 32

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nr 3

8

Zastosowanie analizy cytogenetycznej w diagnostyce maziowczakow zlosliwych [synovioma malignum]

51%

Limon J., Mrozek K., Niedoszytko B., Kopacz A.

Acta Biologica et Medica

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1992

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tom 18

39-41

9

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

51%

Kobielak K., Kobielak A., Limon J., Trzeciak W. H.

Acta Biochimica Polonica

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1998

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tom 45

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nr 1

We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream of the 5' end of the cDNA. Sequence analysis of this fragment documented an additional adenine in position -452, located 32 nucleotides upstream from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and mesodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dysplasia.

10

Effects of acetylsalicylic acid and a new pyrazine derivative PD-101 on sister chromatid exchange frequency and cell kinetics in cultured human lymphocytes

51%

Wozniak A., Limon J., Petrusewicz J., Kaliszan R.

Journal of Applied Genetics

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1998

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tom 39

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nr 3

Acetylsalicylic acid (ASA) and α-2-pyrazylidene-α-cyano N-butyl acetamide (PD-101), a new antiaggregatory pyrazine derivative were tested for their genotoxicity in human lymphocytes in vitro using the sister chromatid exchange (SCE) technique. Both compounds were found to be inactive in inducing SCE in concentration from 1 µM up to 1000 µM. The agents displayed inhibitory effect on cell kinetics.

11

Influence of diethylenetriamine [DETA] and sodium nitroprusside [NaNP] on sister chromatid exchange frequency and cell kinetics in cultured human lymphocytes

51%

Perkowska M., Szczygiel M., Wozniak A., Limon J.

Journal of Applied Genetics

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2001

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tom 42

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nr 2

12

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

39%

Kuzniacka A., Wierzba J., Ratajska M., Lipska B. S., Koczkowska M., Malinowska M., Limon J.

Journal of Applied Genetics

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2013

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tom 54

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nr 1

Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About half of the cases result from mutations in the NIPBL gene coding delangin, a protein regulating the initialisation of cohesion. To date, approximately 250 point mutations have been identified in more than 300 CdLS patients worldwide. In the present study, conducted on a group of 64 unrelated Polish CdLS patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. Additionally, large genomic deletions on chromosome 5p13 encompassing the NIPBL gene locus were detected in two patients with the most severe CdLS phenotype. Taken together, 42 % of patients were found to have a deleterious alteration affecting the NIPBL gene, by and large private ones (89 %). The review of the types of mutations found so far in Polish patients, their frequency and correlation with the severity of the observed phenotype shows that Polish CdLS cases do not significantly differ from other populations.

13

Cytogenetic analysis and clinical significance of chromosome 7 aberrations in acute leukaemia

39%

Brozek I., Babinska M., Kardas I., Wozniak A., Balcerska A., Hellmann A., Limon J.

Journal of Applied Genetics

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2003

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tom 44

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nr 3

14

Loss of heterozygosity at BRCA1-2 loci in hereditary and sporadic ovarian cancers

33%

Brozek I., Ochman K., Debniak J., Morzuch L., Ratajska M., Stepnowska M., Stukan M., Emerich J., Limon J.

Journal of Applied Genetics

|

2009

|

tom 50

|

nr 4

379-384

Loss of heterozygosity at BRCA 1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses at BRCA1 intragenic markers (D17S855 and D17S1323) between BRACA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses at BRCAl intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCAl germline mutations.

15

Angiotensin converting enzyme gene polymorphism is associated with severity of coronary artery disease in men with high total cholesterol levels

33%

Borzyszkowska J., Stanislawska-Sachadyn A., Wirtwein M., Sobiczewski W., Ciecwierz D., Targonski R., Gruchala M., Rynkiewicz A., Limon J.

Journal of Applied Genetics

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2012

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tom 53

|

nr 2

This study examines whether renin-angiotensin-aldosterone system gene polymorphisms: ACE (encoding for angiotensin converting enzyme) c.2306-117_404 I/D, AGTR1 (encoding for angiotensin II type-1 receptor) c.1080*86A>C and CYP11B2 (encoding for aldosterone synthase) c.-344C>T are associated with the extension of coronary atherosclerosis in a group of 647 patients who underwent elective coronary angiography. The extension of CAD was evaluated using the Gensini score. The polymorphisms were determined by PCR and RFLP assays. The associations between genotypes and the extent of coronary atherosclerosis were tested by the Kruskal-Wallis test, followed by pairwise comparisons using Wilcoxon test. The population has been divided into groups defined by: sex, smoking habit, past myocardial infarction, BMI (>, ? 25), age (>, ? 55), diabetes mellitus, level of total cholesterol (>, ? 200 mg/dl), LDL cholesterol (>, ? 130 mg/dl), HDL cholesterol (>, ? 40 mg/dl), triglycerides (>, ? 150 mg/dl). Significant associations between the ACE c.2306-117_404 I/D polymorphism and the Gensini score in men with high total cholesterol levels (PKruskal-Wallis =0.008; Padjusted=0.009), high level of LDL cholesterol (PKruskal-Wallis =0.016; Padjusted=0.028) and low level of HDL cholesterol (PKruskal-Wallis=0.04; Padjusted=0.055) have been found. No association between the AGTR1 c.1080*86A>C and CYP11B2 c.-344C>T and the Gensini score has been found. These results suggest that men who carry ACE c.2306-117_404 DD genotype and have high total cholesterol, high LDL cholesterol and low HDL cholesterol levels may be predisposed to the development of more severe CAD.

16

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous or compound heterozygous mutations in the LDLR gene

33%

Kubalska J., Chmara M., Limon J., Wierzbicka A., Prokurat S., Szaplyko J., Kowalik A., Mierzewska H., Defesche J. C., Pronicka E.

Journal of Applied Genetics

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2008

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tom 49

|

nr 1

109-113

Natural history of the disease in 4 unrelated Polish children with homozygous familial hypercholesterolemia (FH) is described. Their phenotypic homozygosity was established by identification of known LDLR gene mutations on both alleles, respectively: p.G592E & p.G592E in Patient 1; p.G592E & p.C667Y in Patient 2; p.S177L & p.R350X in Patient 3; and p.G592E & deletion in the promoter region, exons 1 and 2 in Patient 4. Heterozygosity of the mutations was revealed in all patients' mothers and fathers (obligatory heterozygotes) and in 1 out of 4 siblings studied. FH was diagnosed at the age of 4 months to 9 years by cholesterol screening among family members of patients with early cardiovascular disease episodes. At the time of FH detection, the children were asymptomatic. Only in 2, some skin eruptions were found. Antihyperlipidemic therapy was started, including a lipid-lowering diet, cholestyramine, and HMG-CoA inhibitors if necessary. No cardiovascular symptoms appeared during the observation up to the age of 18, 20, 19, and 17 years, respectively. An increase in external carotid artery diameter was found in a patient at the age of 9 years, and LDL-apheresis was introduced in his therapy. We conclude that the analysis of LDLR gene mutations in the studied FH children made it possible to identify 4 presymptomatic FH homozygotes and to introduce early appropriate treatment. Multicenter analysis of such persons would finally determine if the early lipid-lowering procedures can significantly reduce the risk of premature cardiovascular disease in homozygous FH.

17

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

33%

Koczkowska M., Wierzba J., Smigiel R., Sasiadek M., Cabala M., Slezak R., Iliszko M., Kardas I., Limon J., Lipska-Zietkiewicz B. S.

Journal of Applied Genetics

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2017

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tom 58

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nr 1

18

Medycyna laboratoryjna w Uniwersysteckim Centrum Klinicznym w Gdańsku. Optymalizacja systemu organizacji i zarządzania

33%

Jakubowski Z., Skibowska-Bielinska A., Robakowska M., Chrzan P., Utracka A., Moszkowska G., Samet A., Bronk M., Biernat W., Limon J.

Diagnostyka Laboratoryjna

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2009

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tom 45

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nr 4

19

Non-isotopic procedure with silver staining of polyacrylamide gels in detection of genomic abnormalities in tumors using microsatellites

33%

Podolski J., Hadaczek P., Gibas Z., Gibas L., Grossman H. B., Limon J., Huebner K., Lubinski J.

Folia Histochemica et Cytobiologica

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1995

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tom 33

|

nr 2

20

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome

33%

Haack B., Kupka S., Ebauer M., Siemiatkowska A., Pfister M., Kwiatkowska J., Erecinski J., Limon J., Ochman K., Blin N.

Journal of Applied Genetics

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2004

|

tom 45

|

nr 3

Ograniczanie wyników

On the significance of recourrent chromosome aberrations and gene fusions and other rearranged genes in soft tissue tumors

The magic human 46 chromosomes were immortalised on a bronze plaque at Lund University in Sweden

The effect of cacodylate buffer on morphological differentiation of human chromosomes

Nerwiak zarodkowy [neuroblastoma] - znaczenie wynikow badan cytogenetycznych i molekularnych w ustaleniu strategii leczenia i rokowania

Zjawisko asymetrii bocznej heterochromatyny konstytutywnej chromosomów metafazowych człowieka

Use the corneal epithelium for genetic studies in frogs (Ranidae)

An analysis of satellite associations formation by cytologic Ag-NOR variants of human chromosomes

Zastosowanie analizy cytogenetycznej w diagnostyce maziowczakow zlosliwych [synovioma malignum]

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

Effects of acetylsalicylic acid and a new pyrazine derivative PD-101 on sister chromatid exchange frequency and cell kinetics in cultured human lymphocytes

Influence of diethylenetriamine [DETA] and sodium nitroprusside [NaNP] on sister chromatid exchange frequency and cell kinetics in cultured human lymphocytes

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Cytogenetic analysis and clinical significance of chromosome 7 aberrations in acute leukaemia

Loss of heterozygosity at BRCA1-2 loci in hereditary and sporadic ovarian cancers

Angiotensin converting enzyme gene polymorphism is associated with severity of coronary artery disease in men with high total cholesterol levels

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous or compound heterozygous mutations in the LDLR gene

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Medycyna laboratoryjna w Uniwersysteckim Centrum Klinicznym w Gdańsku. Optymalizacja systemu organizacji i zarządzania

Non-isotopic procedure with silver staining of polyacrylamide gels in detection of genomic abnormalities in tumors using microsatellites

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome