Wyniki wyszukiwania

1

Wpływ krótkotrwałych zmian glikemii na glikozylację albumin in vitro i in vivo

100%

Ciechanowski K., Ciechanowicz A.

Diagnostyka Laboratoryjna i Wiadomości PTDL

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1993

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tom 29

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nr 1

2

Mites of the family parasitidae [Acari, Mesostigmata] of the Drawno National Park, Gory Stolowe National Park and Magura National Park

81%

Skorupski M., Ciechanowicz A., Golojuch P., Swiecioch J.

Zeszyty Naukowe Akademii Techniczno-Rolniczej w Bydgoszczy. Ochrona Środowiska

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1998

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tom 2

287-290

3

Allele frequency distribution of 1691G>A F5 (which confers Factor V Leiden) across Europe, including Slavic populations

81%

Clark J. S. C., Adler G., Salkic N. N., Ciechanowicz A.

Journal of Applied Genetics

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2013

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tom 54

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nr 4

4

'Treasure your exceptions': recent advances in molecular genetics of glomerular disease

71%

Ciechanowicz A., Brodkiewicz A., Binczak-Kuleta A., Parczewski M., Czekalski S.

Journal of Applied Genetics

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2008

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tom 49

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nr 1

93-99

The glomerular filtration barrier consists of endothelial cells, the glomerular basement membrane, and podocytes. The membrane is a highly crosslinked macromolecular meshwork composed of specific extracellular matrix proteins. The adjacent foot processes of podocytes are bridged along their basolateral surfaces by a slit diaphragm (a porous filter structure of nephrin molecules). Recent discoveries of mutations in the range of genes encoding proteins involved in the structure or function of the glomerular filtration barrier have provided new insights into mechanisms of glomerular diseases. In this review, we summarize recent progress in the elucidation of the genetic basis of some glomerulopathies in humans.

5

Sickle cell anemia-associated beta-globin mutation in shagia and manasir tribes from sudan

71%

Kempinska-Podhorodecka A., Knap O. M., Parczewski M., Binczak-Kuleta A., Ciechanowicz A.

Polish Journal of Environmental Studies

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2011

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tom 20

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nr 6

Sickle cell anemia is common in Africa, because it is selected by the pressure related to infection with Plasmodium spp. However, its distribution varies locally, especially in isolated populations. The aim of this study was to analyze the frequency of the HbS mutation in two local tribes of Arab origin, the Shagia and Manasir, which are both from the region of the 4th Nile cataract. The Shagia cohort investigated represents an isolated homogenous population and was relocated recently owing to construction of a dam; the Manasir cohort had significant admixtures from other tribes. Anthropological data and buccal swabs were collected from 126 Shagia and 90 Manasir representatives from the area and were analyzed using a PCR/RFLP assay specific for HbS, with confirmation by sequencing. The S mutation in the HBB gene was not detected among the Shagia and Manasir individuals investigated. The HbS AA genotype and A allele frequency therefore showed a prevalence of 100% in both groups. Lack of HbS mutation of the HBB gene in the previously unstudied Shagia group confirms that the frequency of the sickle cell gene in Sudan is tending to decrease in a northerly direction.

6

Laboratoryjna ocena odpowiedzi na leczenie kwasem acetylosalicylowym (ASA) u pacjentów w ostrej fazie udaru niedokrwiennego mózgu – zastosowanie agregometrii przepływowej (PFA-100) i impedancyjnej (Multiplate)

61%

Jastrzebska M., Siennicka A., Chelstowski K., Ciechanowicz A., Nowacki P., Wodecka A.

Diagnostyka Laboratoryjna

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2011

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tom 47

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nr 2

7

Plasma proteomic profiling of African catfish (Clarias gariepinus)

61%

Herosimczyk A., Ozgo M., Lepczynski A., Ciechanowicz A., Colussi A., Seniuta P., Skrzypczak W. F.

Medycyna Weterynaryjna

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2013

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tom 69

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nr 10

This study was aimed at profiling plasma proteins of healthy 8-month-old African catfish. Plasma proteins within the isoelectric point ranging from 3.0 to 10.0 were separated by high resolution two-dimensional electrophoresis (2-DE). In total, 8 different gene products were identified with a matrix-assisted laser desorption/ionization (MALDI) time-of-flight (TOF) mass spectrometer. These included carrier proteins (fatty acid-binding protein 1, metallothionein, mitoferrin-2), a structural protein (vimentin), proteins involved in the regulation of transcription (thyroid hormone receptor alpha A, endothelial differentiation-related factor 1 homolog), and others (B-cell lymphoma 6 protein homolog, FGFR1 oncogene partner 2 homolog). This is the first study attempting to map the plasma proteome of Clarias gariepinus. Owing to the lack of information concerning catfish protein sequences in the relevant databases, protein spots were identified by matching peptide data to interspecies homology. The results of this preliminary study may encourage other authors to undertake further research on the plasma proteome of the African catfish.

8

Common genetic polymorphisms and environmental risk factors in polish patients with angiographically documented coronary artery disease

61%

Goracy J., Goracy I., Kaczmarczyk M., Brykczynski M., Widecka-Ostrowska K., Taryma O., Ciechanowicz A.

Polish Journal of Environmental Studies

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2011

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tom 20

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nr 6

It has been suggested that the G894T NOS3, C677T MTHFR, A(-455)G FBB, and C(-1562)T MMP-9genetic polymorphisms were implicated in the pathogenesis of CAD. We assessed their prevalence among CAD and controls. A total of 180 individuals with angiographically documented CAD (138 males and 42 females, age range 37-84 years) were recruited into the study. 133 patients with ≥50% occlusion of the coronary artery lumen in angiography comprised the CAD group, a subgroup of 45 patients with one vessel occlusion as CAD1, 88 patients with multivessel occlusion as CAD2+3 and the control group consisted of 47 subjects without changes in coronary arteries. Risk factors (gender, BMI, smoking, diabetes mellitus, hypertension, lipid profile) were considered for all participants. Genotype analysis was assessed by PCR-RFLP. A logistic regression analysis with CAD and CAD severity (CAD2+3 vs. CAD1) as dependent variables was performed to estimate the age, gender, and cardiovascular risk factors (age, gender, BMI, smoking, hypertension) adjusting odds ratios for the genotypes. None of the polymorphisms studied were shown to be independently associated with an increased risk of CAD or multivessel CAD disease, in any mode of inheritance. A highly increased risk (OR 9.59) of the predisposition to advanced CAD, although only marginally significant, was observed in TT MMP-9 homozygotes. Our results suggest a lack of association between G894T NOS3, A(-455)G FBB, C677T MTHFR, or C(-1562)T MMP-9 genetic variants and CAD in Polish patients. Although a higher prevalence of classical risk factor was observed in our CAD patients.

9

Taq1B polymorphism of the cholesteryl ester transfer protein gene and CETP activity in members of families with a history of ischaemic heart disease

61%

Wesolowska T., Adler G., Chelstowski K., Ciechanowicz A., Torbus-Lisecka B., Naruszewicz M.

Acta Biochimica Polonica

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2003

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tom 50

|

nr Supplement 1

10

C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of ischemic stroke in Polish subjects

61%

Goracy I., Cyrylowski L., Kaczmarczyk M., Fabian A., Koziarska D., Goracy J., Ciechanowicz A.

Journal of Applied Genetics

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2009

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tom 50

|

nr 1

63-67

Hyperhomocysteinemia is reported to be an independent risk factor for the development of ischemic stroke. Several studies on genetic variants of methylenetetrahydrofolate reductase (MTHFR, which plays a crucial role in regulation of plasma homocysteine concentration) reported an association between C677T gene polymorphism and stroke in some Asian populations. No study but one detected this association in Caucasians. The purpose of the present case-control study was to find a relationship between MTHFR genotypes and stroke in a Polish population. MTHFR genotypes were determined by PCR in 152 patients with ischemic stroke from northwestern Poland and in 135 consecutive newborns from the same population. The TT genotype and the T allele were significantly more frequent in patients than in the control group (11.8% vs. 4.4%, and 34.5% vs. 21.5%, P < 0.01). When males and females were analyzed separately, the differences were statistically significant in both genders. It is concluded that presence of the T allele is a risk factor for ischemic stroke in Polish subjects.

11

DNA microsatellite analysis in families autosomal dominant polycystic kidney disease [ADPKD]: the first Polish study

61%

Binczak-Kuleta A., Rozanski J., Domanski L., Myslak M., Ciechanowski K., Ciechanowicz A.

Journal of Applied Genetics

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2006

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tom 47

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nr 4

Background: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited renal disorders with genetic heterogeneity. Mutations of two known genes are responsible for this disease: PKD1 at 16p 13.3 and PKD2 at 4q21-23. A majority of cases (85%) are caused by mutations in PKD1. Because direct mutation screening remains complex, we describe here the application of an efficient approach to studies based on highly informative dinucleotide and tetranucleotide repeats flanking genes PKD1 and PKD2. Methods: For this study a series of microsatellites closely linked to locus PKD1 (D16S291, D16S663, D16S665, D16S283, Dl6S407, D16S475) and to locus PKD2 (D4S1563, D4S2929, D4S414, D4S1534, D4S423) were selected. Short (81-242 bp) DNA fragments containing the tandem repeats were amplified by polymerase chain reaction (PCR). The number of repeat units of microsatelite markers was determined by fluorescent capillary electrophoresis. Results: DNA microsatellite analysis was performed in 25 Polish ADPKD families and established the type of disease (21 families PKDl-type, 1 family PKD2-type). Conclusions: While a disease-causing mutation in the PKD1 and PKD2 genes cannot be identified, DNA microsatellite analysis provided an early diagnosis and may be considered in ADPKD families.

12

An age-related decrease in factor V Leiden frequency among Polish subjects

51%

Adler G., Parczewski M., Czerska E., Loniewska B., Kaczmarczyk M., Gumprecht J., Grzeszczak W., Szybinska A., Mossakowska M., Ciechanowicz A.

Journal of Applied Genetics

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2010

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tom 51

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nr 3

Factor V Leiden (G1691A FV mutation) is a widely acknowledged risk factor of deep vein thrombosis, including pulmonary embolism as the most serious complication. However, its high prevalence of ~5% in the Caucasian population might be related to an unknown evolutionary advantage. It might exert a beneficial effect on the carrier, e.g. protecting women from excessive bleeding during labour or allowing increased survival in severe sepsis or with other inflammatory diseases. The aim of our study was to verify or contradict the hypothesis of a favourable association between the A allele (A1691) and longevity in the Polish population. For this purpose, the G1691A mutation was analyzed by PCR-RFLP in 1016 Poles: 400 neonates (187 female and 312 male), 184 healthy adults (129 female and 55 male), and 432 long-lived individuals (age ≥ 95 years: 343 women and 89 men). Frequencies of G1691A carriers and the A1691 allele in long-lived individuals (0.2% and 0.1%, respectively) were significantly lower than in neonates (4.2% and 2.2%, respectively) and adults (3.3% and 1.6%). The frequency of the G1691A factor V Leiden mutation decreased with age, which indicates a shorter survival time among A1691 allele carriers in the Polish population.

13

Genetic screening for glucocorticid-remedible aldosteronism [GRA]: experience of three clinical centres in Poland

51%

Adler G., Widecka K., Peczkowska M., Dobrucki T., Placha G., Drozd R., Parczewski M., Januszewicz A., Gaciong Z., Ciechanowicz A.

Journal of Applied Genetics

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2005

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tom 46

|

nr 3

329-332

Glucocorticoid-remediable aldosteronism (GRA), also known as familial hyperaldosteronism type I (FH-I, OMIM 103900), is a monogenic form of inherited hypertension caused by the presence of a chimaeric gene originating from an unequal cross-over between the CYP11B1 (11ß-hydroxylase) and CYP11B2 (aldosterone synthase) genes. The hybrid gene has the CYP11B1 sequence at the 5' end, including the promoter, and the CYP11B2 sequence at the 3' end. The aim of our study was to evaluate the prevalence of GRA in a Polish population of 129 patients with primary hyperaldosteronism (PHA) and 132 patients with essential hypertension (EH), through the use of a PCR-based test revealing the chimaeric gene. None of our PHA or EH patients was positive for the CYP11BHCYP11B2 chimaeric gene. These data suggest that GRA is unlikely to be a common cause of hypertension in Polish subjects. However, the real prevalence of GRA in Poland, both in the high-risk group of individuals with primary hyperaldosteronism and in the general population, remains to be established.

14

Sequence variants of chemokine receptor genes and susceptibility to HIV-1 infection

51%

Parczewski M., Leszczyszyn-Pynka M., Kaczmarczyk M., Adler G., Binczak-Kuleta A., Loniewska B., Boron-Kaczmarska A., Ciechanowicz A.

Journal of Applied Genetics

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2009

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tom 50

|

nr 2

159-166

Genetic susceptibility to HIV infection was previously proven to be influenced by some chemokine receptor polymorphisms clustering on chromosome 3p21. Here the influence of 5 genetic variants was studied: Δ32 CCR5, G(-2459)A CCR5, G190A CCR2, G744A CX3CR1 and C838T CX3CR1. They were screened in a cohort of 168 HIV-1 positive adults [HIV(+) group] and 151 newborns [control group] from northwestern Poland. PCR-RFLP was performed to screen for the variants (except for Δ32 CCR5 polymorphism, where PCR fragment size was sufficient to identify the alleles) and then electrophoresed on agarose gel to determine fragment size. Distribution of genotypes and alleles was not significantly different between the groups except for the CCR5 polymorphisms, with the Δ32 allele and the (-2459)A CCR5 allele more frequent among neonates than in the HIV(+) group. No Δ32/Δ32 homozygotes were found in the HIV(+) group, but 16.1% were Δ32/wt heterozygotes. In the control group, 1.3% were Δ32/Δ32 homozygotes and 26.0% were Δ32/wt heterozygotes. Linkage between the chemokine polymorphisms was calculated using the most informative loci for haplotype reconstruction. Haplotypes containing Δ32 CCR5,190G CCR2 and 744A CX3CR1 were found to be significantly more common in the control group. This suggests an association between these haplotypes and resistance to HIV-1 infection.

15

CYP17 and CYP19 genetic variants are not associated with age at natural menopause in Polish women

51%

Rumianowski B., Adler G., Safranow K., Brodowska A., Karakiewicz B., Sluczanowska-Glabowska S., Loniewska B., Piasecka M., Ciechanowicz A., Laszczynska M.

Reproductive Biology

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2012

|

tom 12

|

nr 4

16

Application of PCR and RT-PCR for the detection of Helicobacter pylori in saliva and gastric mucosa

51%

Ciechanowicz A., Korzonek M., Ryszkiewicz D., Domanski L., Tylutki M., Bielicka V., Naruszewicz M., Szmatloch E.

Journal of Physiology and Pharmacology. Supplement

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1997

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tom 48

|

nr 1

17

The association of ADA 2 allen of the adenosine deaminase gene with the susceptibility to coronary artery disease

42%

Safranow K., Rzeuski R., Biczak-Kuleta A., Czyzycka E., Skowronek J., Jakubowska K., Olszewska M., Wojtarowicz A., Loniewska B., Ciechanowicz A., Kornacwewicz-Jach Z., Chlubek D.

Acta Biochimica Polonica

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2006

|

tom 53

|

nr Supplement 1

18

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Koncentracja wybranych frakcji białek oraz ich procentowy udział w białku całkowitym osocza krwi cieląt noworodków

42%

Ciechanowicz A., Michalek K., Ozgo M., Dratwa-Chalupnik A., Kurpinska A., Klonowska A., Herosimczyk A., Lepczynski A., Niemcewicz M., Stanski L., Skrzypczak W.

Acta Scientiarum Polonorum. Zootechnica

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2010

|

tom 09

|

nr 4

Celem pracy było określenie dynamiki zmian koncentracji albumin oraz frakcji wybranych białek o masach zarówno wyższych, jak i niższych od albumin. Zbadano również zmiany procentowego udziału tych frakcji w białku całkowitym osocza krwi. Badania przeprowadzono na siedmiu cielętach w pierwszych siedmiu dniach życia. Wykazano, że zmianom wraz z wiekiem ulega zarówno koncentracja, jak i procentowy udział albumin oraz białek o masach cząsteczkowych wyższych i niższych w białku całkowitym osocza krwi cieląt noworodków. Średnie stężenie albumin w osoczu krwi w pierwszym tygodniu wahało się w granicach od 29,22 do 31,72 g ・ l–1. Procentowy udział tej frakcji w białku całkowitym osocza krwi obniżał się od 38,14 do 29,43%. Stężenie frakcji białek wysokocząsteczkowych wykazywało tendencję wzrostową (od 8,43 do 14,47 g ・ l–1). Średni procentowy udział tej frakcji w białku całkowitym wahał się od 10,71 do 13,22%. Koncentracja białek niskocząsteczkowych wzrastała w pierwszych czterech dniach życia od 18,73 do 36,60 g ・ l–1, a ich procentowy udział w białku całkowitym wzrastał od 24,10 do 31,64%.

19

AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases

42%

Safranow K., Suchy J., Jakubowska K., Olszewska M., Binczak-Kuleta A., Kurzawski G., Rzeuski R., Czyzycka E., Loniewska B., Kornacewicz-Jach Z., Ciechanowicz A., Chlubek D.

Journal of Applied Genetics

|

2011

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tom 52

|

nr 1

Previous studies showed an association of the common functional polymorphism (C34T, Gln12Stop) in the adenosine monophosphate deaminase-1 (AMPD1) gene with survival in heart failure (HF) and/or coronary artery disease (CAD). The aim of the study was to search for other mutations in selected regions of the AMPD1 gene in Polish CAD and HF patients, and to analyze their associations with obesity and diabetes. Exons 2, 3, 5, and 7 of AMPD1 were scanned for mutations in 97 patients with CAD without HF (CAD+ HF−), 104 patients with HF (HF+), and 200 newborns from North-Western Poland using denaturing high-performance liquid chromatography (DHPLC), polymerase chain reaction–restriction fragment length polymorphism (PCRRFLP), and direct sequencing. Frequencies of AMPD1 C34T mutation, as well as novel A99G, G512A, IVS4-6delT, and C784T sequence alterations, were similar in the three groups, but 860T mutated allele was less frequent in the combined CAD+ HF− and HF+ groups than in the controls (1.7% vs. 4.3%, p=0.040). Heterozygous 34CT genotype was associated with lower (odds ratio [OR]=0.32, 95% confidence interval [CI]=0.13–0.81) and 860AT with higher (OR=13.7, 95%CI= 1.6–118) prevalence of diabetes or hyperglycemia in relation to wild-type homozygotes. Abdominal obesity was more frequent in 860AT patients than in wild-type homozygotes and 34CT heterozygotes (86% vs. 40% vs. 29%, p<0.05). Nine genes containing polymorphisms linked with AMPD1 C34T mutation were found in the HapMap database. AMPD1 C34T nonsense mutation is associated with reduced prevalence of diabetes and obesity in patients with CAD or HF, but A860T substitution seems to exert opposite metabolic effects and should always be accounted for in the studies of the AMPD1 genotype.

Ograniczanie wyników

Wpływ krótkotrwałych zmian glikemii na glikozylację albumin in vitro i in vivo

Mites of the family parasitidae [Acari, Mesostigmata] of the Drawno National Park, Gory Stolowe National Park and Magura National Park

Allele frequency distribution of 1691G>A F5 (which confers Factor V Leiden) across Europe, including Slavic populations

'Treasure your exceptions': recent advances in molecular genetics of glomerular disease

Sickle cell anemia-associated beta-globin mutation in shagia and manasir tribes from sudan

Laboratoryjna ocena odpowiedzi na leczenie kwasem acetylosalicylowym (ASA) u pacjentów w ostrej fazie udaru niedokrwiennego mózgu – zastosowanie agregometrii przepływowej (PFA-100) i impedancyjnej (Multiplate)

Plasma proteomic profiling of African catfish (Clarias gariepinus)

Common genetic polymorphisms and environmental risk factors in polish patients with angiographically documented coronary artery disease

Taq1B polymorphism of the cholesteryl ester transfer protein gene and CETP activity in members of families with a history of ischaemic heart disease

C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of ischemic stroke in Polish subjects

DNA microsatellite analysis in families autosomal dominant polycystic kidney disease [ADPKD]: the first Polish study

An age-related decrease in factor V Leiden frequency among Polish subjects

Genetic screening for glucocorticid-remedible aldosteronism [GRA]: experience of three clinical centres in Poland

Sequence variants of chemokine receptor genes and susceptibility to HIV-1 infection

CYP17 and CYP19 genetic variants are not associated with age at natural menopause in Polish women

Application of PCR and RT-PCR for the detection of Helicobacter pylori in saliva and gastric mucosa

The association of ADA 2 allen of the adenosine deaminase gene with the susceptibility to coronary artery disease

Koncentracja wybranych frakcji białek oraz ich procentowy udział w białku całkowitym osocza krwi cieląt noworodków

AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases