Wyniki wyszukiwania

1

Cystic fibrosis as a cause of infertility

100%

Jarzabek K., Zbucka M., Pepinski W., Szamatowicz J., Domitrz J., Janica J., Wolczynski S., Szamatowicz M.

Reproductive Biology

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2004

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tom 04

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nr 2

2

RNA modulation, repair and remodeling by splice switching oligonucleotides

100%

Kole R., Williams T., Cohen L.

Acta Biochimica Polonica

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2004

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tom 51

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nr 2

Targeting splicing by antisense oligonucleotides allows RNA modifications that are not possible with RNA interference or other antisense techniques that destine the RNA for destruction. By changing the ratio of naturally occurring splice variants the expression of mRNA is modulated. By preventing the use of an aberrant splice site created by a mutation and enforcing re-selection of correct splice sites the RNA is repaired. Antisense induced skipping of the exon that carries a nonsense mutation remodels the mRNA and restores the reading frame of the defective protein. All of the above approaches have clinical applications. Modulation of splice variants is particularly important since close to 60% of all genes code for alternatively spliced pre-mRNA.

3

The specificity of intracellular protein aggregation

88%

Milewski M. I., Mickle J. E., Cutting G. R.

Cellular and Molecular Biology Letters

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2002

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tom 07

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nr Suppl.

4

Indications to epigenetic dysfunction in the pathogenesis of common variable immunodeficiency

75%

Rae W.

Archivum Immunologiae et Therapiae Experimentalis

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2017

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tom 65

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nr 2

5

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A child with a rare genetic disease - Noonan syndrome

75%

Siwik P., Janas A.

Journal of Pre-Clinical and Clinical Research

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2015

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tom 09

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nr 1

Noonan syndrome is a congenital developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies, with as estimated incidence of between one per 1000 and one per 2500 live births. The aim of our study is to present a case of dental surgical treatment of a child with such disorder. It is widely reported that children with mental disabilities receive less dental and medical care than their nondisabled counterparts. Because of this problem, it seems justified to describe the procedures of treating such children with dental issues, basing on a case of a girl with Noonan Syndrome.

6

Mapping of India’s contribution on “Down syndrome” during 40 years from 1973-2012

75%

Siwach A. K.

International Letters of Natural Sciences

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2015

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tom 07

Down syndrome, a genetic disease, is commonly diagnosed congenital malformation/mental retardation syndrome occurring in people of all races and economic levels. The present study is aimed to examine the contribution of Indian scientists on Down syndrome during the 40 years span from 1973-2012. The study analyses the Indian share in the research output, contribution and citation impact of top Indian institutions, most prolific Indian authors, top journals for publication, top collaborating countries, number of citations received and the highly cited papers in the Indian research on Down syndrome.

7

The kinetics of hemolysis as an indicator of spherocytosis

75%

Chmura A., Pazdzior G., Langner M.

Cellular and Molecular Biology Letters

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2002

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tom 07

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nr 2

8

Large-scale analysis of sequence tags in Xp11.4-11.3 and evaluation of candidate genes for X-linked ocular diseases

75%

Pusch C. M.

Journal of Applied Genetics

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2001

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tom 42

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nr 1

9

Identification of BLAD and citrullinemia carriers in Chinese Holstein cattle

63%

Li J., Wang H., Zhang Y., Hou M., Zhong J., Zhang Y.

Animal Science Papers and Reports

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2011

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tom 29

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nr 1

Bovine leukocyte adhesion deficiency (BLAD) and citrullinemia are two autosomal recessive genetic diseases in Holstein cattle and both result in death of homozygous animals. Through the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology and DNA sequencing, one citrullinemia and three BLAD carriers were found in a population of 615 Chinese Holstein cattle, including 436 cows and 179 bulls. Citrullinemia and BLAD carrier frequency was 0.16% and 0.49%, respectively, in tested Chinese Holstein cattle. In this study, the first citrullinemia carrier occurring in Chinese Holstein cattle is described, although the world frequency of this disorder is very low.

10

The potential role of O-GlcNAc modification in cancer epigenetics

63%

Forma E., Jozwiak P., Brys M., Krzeslak A.

Cellular and Molecular Biology Letters

|

2014

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tom 19

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nr 3

There is no doubt that cancer is not only a genetic disease but that it can also occur due to epigenetic abnormalities. Diet and environmental factors can alter the scope of epigenetic regulation. The results of recent studies suggest that O-GlcNAcylation, which involves the addition of N-acetylglucosamine on the serine or threonine residues of proteins, may play a key role in the regulation of the epigenome in response to the metabolic status of the cell. Two enzymes are responsible for cyclic O-GlcNAcylation: O-GlcNAc transferase (OGT), which catalyzes the addition of the GlcNAc moiety to target proteins; and O-GlcNAcase (OGA), which removes the sugar moiety from proteins. Aberrant expression of O-GlcNAc cycling enzymes, especially OGT, has been found in all studied human cancers. OGT can link the cellular metabolic state and the epigenetic status of cancer cells by interacting with and modifying many epigenetic factors, such as HCF-1, TET, mSin3A, HDAC, and BAP1. A growing body of evidence from animal model systems also suggests an important role for OGT in polycomb-dependent repression of genes activity. Moreover, O-GlcNAcylation may be a part of the histone code: O-GlcNAc residues are found on all core histones.

11

The nuclear lamins and the nuclear envelope

63%

Rzepecki R.

Cellular and Molecular Biology Letters

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2002

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tom 07

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nr 4

The cell nucleus is separated from the rest of the cell by the nuclear envelope. The nuclear envelope, nuclear envelope proteins and nuclear lamina organise the structure of the entire nucleus and the chromatin via a myriad of interactions. These interactions are dynamic, change with the change (progress) of the cell cycle, with cell differentiation and with changes in cell physiology.

12

Cellular response I: Mutagenesis, apoptosis, basic relation to carcinogenic models

63%

Voutsinas G.

Folia Histochemica et Cytobiologica. Supplement

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2001

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tom 39

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nr 1

13

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

63%

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.

14

MutS as a tool for mutation detection

63%

Stanislawska-Sachadyn A., Sachadyn P.

Acta Biochimica Polonica

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2005

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tom 52

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nr 3

MutS, a DNA mismatch-binding protein, seems to be a promising tool for mutation detection. We present three MutS based approaches to the detection of point mutations: DNA retardation, protection of mismatched DNA against exonuclease digestion, and chimeric MutS proteins. DNA retardation in polyacrylamide gels stained with SYBR-Gold allows mutation detection using 1-3 µg of Thermus thermophilus his6-MutS protein and 50-200 ng of a PCR product. The method enables the search for a broad range of mutations: from single up to several nucleotide, as mutations over three nucleotides could be detected in electrophoresis without MutS, due to the mobility shift caused by large insertion/deletion loops in heteroduplex DNA. The binding of DNA mismatches by MutS protects the complexed DNA against exonuclease digestion. The direct addition of the fluorescent dye, SYBR-Gold, allows mutation detection in a single-tube assay. The limited efficiency of T4 DNA polymerase as an exonuclease hampers the application of the method in practice. The assay required 300-400 ng of PCR products in the range of 200-700 bp and 1-3 µg of MutS. MutS binding to mismatched DNA immobilised on a solid phase can be observed thanks to the activity of a reporter domain linked to MutS. We obtained chimeric bifunctional proteins consisting of T. thermophilus MutS and reporter domains, like β-galactosidase or GFP. Very low detection limits for β-galactosidase could theoretically enable mutation detection not only by the examination of PCR products, but even of genomic DNA.

15

Modification of pre-mRNA splicing by antisense oligonucleotides

63%

Kole R.

Acta Biochimica Polonica

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1997

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tom 44

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nr 2

Antisene oligonucleotides have been extensively studied as agents that inhibit the expression of undesirable genes in a sequence specific manner. Results reviewed in this article show that antisene oligonucleotides can also restore the expression of genes inactivated by mutations causing genetic diseases. In this novel application, antisene oligonucleotides block aberrant splice sites created by the mutations, forcing the spliceosomes to form at correct splice sites, thus restoring the proper splicing pathway and consequently the activity of the damaged gene.

16

Antioxidant status in erythrocytes of cystic fibrosis children

63%

Laskowska-Klita T., Chelchowska M.

Acta Biochimica Polonica

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2001

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tom 48

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nr 1

Activities of superoxide dismutase, catalase and glutathione peroxidase in erythrocytes of cystic fibrosis children were studied in order to estimate the severity of their deficiency. Our results point to increased susceptibility of erythrocytes of cystic fibrosis subjects to oxidative injury and indicate that the antioxidant status of patients should be carefully monitored.

17

Prevalence of bovine leucocyte adhesion deficiency [BLAD] in Polish Black-and-White bulls

63%

Otwinowska-Mindur A., Zarnecki A.

Animal Science Papers and Reports. Supplement

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2004

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tom 22

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nr 2

18

Microsatellite polymorphism in intron 1 of the bovine myostatin gene

63%

De l. R.-R. X. F., Rodriguez P. M. A., Sifuentes-Rincon A. M.

Journal of Applied Genetics

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2006

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tom 47

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nr 1

Microsatellites within genes have become important because of their association with genetic diseases in humans. A novel microsatellite was identified in the first intron of the bovine myostatin gene. It is characterized by a mononucleotide core motif that exhibits polymorphic sequence variants (from 12 to 21 repeats) within and between some bovine breeds. Structural analysis of the microsatellite region in bovines as well as in closely related species permitted to trace the possible mechanisms for its structural evolution across the order Artiodactyla.

19

The transcription factor FOXL2 in ovarian function and dysfunction

51%

De Baere E., Fellous M., Veitia R. A.

Folia Histochemica et Cytobiologica

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2009

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tom 47

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nr 5

20

The potential role of Kruppel-like zinc-finger protein glis3 in genetic diseases and cancers

51%

Chou C.-K., Tang C.-J., Chou H.-L., Liu C.-Y., Ng M.-C., Chang Y.-T., Yuan S.-S. F., Tsai E.-M., Chiu C.-C.

Archivum Immunologiae et Therapiae Experimentalis

|

2017

|

tom 65

|

nr 5

Ograniczanie wyników

Cystic fibrosis as a cause of infertility

RNA modulation, repair and remodeling by splice switching oligonucleotides

The specificity of intracellular protein aggregation

Indications to epigenetic dysfunction in the pathogenesis of common variable immunodeficiency

A child with a rare genetic disease - Noonan syndrome

Mapping of India’s contribution on “Down syndrome” during 40 years from 1973-2012

The kinetics of hemolysis as an indicator of spherocytosis

Large-scale analysis of sequence tags in Xp11.4-11.3 and evaluation of candidate genes for X-linked ocular diseases

Identification of BLAD and citrullinemia carriers in Chinese Holstein cattle

The potential role of O-GlcNAc modification in cancer epigenetics

The nuclear lamins and the nuclear envelope

Cellular response I: Mutagenesis, apoptosis, basic relation to carcinogenic models

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

MutS as a tool for mutation detection

Modification of pre-mRNA splicing by antisense oligonucleotides

Antioxidant status in erythrocytes of cystic fibrosis children

Prevalence of bovine leucocyte adhesion deficiency [BLAD] in Polish Black-and-White bulls

Microsatellite polymorphism in intron 1 of the bovine myostatin gene

The transcription factor FOXL2 in ovarian function and dysfunction

The potential role of Kruppel-like zinc-finger protein glis3 in genetic diseases and cancers