Wyniki wyszukiwania - Biblioteka Nauki

1

What is the unique nature of the Huntington’s Disease?

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Adrian Bartoszek A. , Kamil Szalast K.

European Journal of Clinical and Experimental Medicine

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2019

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nr 2

169-174

EN

Introduction. Huntington’s disease is a rare neurodegenerative disease, inherited in an autosomal dominant manner. Every child in the family whose parent is a carrier of the mutant gene has a 50% risk of inheriting the disease. Genetic tests unambiguously confirm whether a person at risk is ill or not. Symptoms include movement, neuropsychiatric and cognitive disorders. Currently, the disease is incurable and there are no effective methods for its treatment. Aim. The aim is to present information about Huntington’s disease, its inheritance, symptoms and pathologies, as well as to draw attention to its unique impact on patients and their families. Material and methods. A literature review of the following databases has been conducted: PubMed, Science Direct, EBSCO, Springer Link. Results. Huntington’s disease, due to the autosomal dominant inheritance, disturbs the whole family system. Over several generations, a family can struggle with the problems of taking care of several patients at the same time, providing children with information about the risk of falling ill, making decisions about genetic testing, and starting a family or having children. Conclusion. Huntington’s disease is a challenge for healthcare professionals who are not always prepared to solve unique, multi-generational problems in families with Huntington’s disease.

2

Cystic fibrosis as a cause of infertility

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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

3

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

EN

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.

4

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

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Siwach A. K.

International Letters of Natural Sciences

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2015

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tom 07

EN

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.

5

Bilateral anterior lenticonus in the course of Alport syndrome – a case report

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Pandey A. , Gugnowska J. , Kruszyńska A. , Cwalina O. , Czarnacka K. , Gawlak M. , Chmura A. , Kozak M. , Sajak-Hydzik K. , Pawlicka I.

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nr 2

107-116

PL

Zespół Alporta jest chorobą genetyczną, która doprowadza nie tylko do przewlekłej choroby nerek, ale również do utraty słuchu i wzroku. W artykule został przedstawiony przypadek 34-letniego mężczyzny ze zdiagnozowanym przednim stożkiem soczewki w przebiegu zespołu Alporta. W związku z postępującym pogorszeniem widzenia i nieskutecznością doboru okularów pacjent został zakwalifikowany do zabiegu chirurgicznego. Przeprowadzono operację fakoemulsyfikacji zaćmy początkowej zniekształconych soczewek.

EN

Alport syndrome is a genetic disease that leads not only to chronic kidney disease but also to loss of hearing and vison. The article presents a case of a 34-year-old with anterior lenticonus in Alport syndrome. Due to the progressive deterioration of vision and the ineffectiveness of the selection of glasses, he was qualified for the surgery - the phacoemulsification for immature cataract of distorted lenses.

6

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

7

The kinetics of hemolysis as an indicator of spherocytosis

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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.

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tom 42

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nr 1

9

The nuclear lamins and the nuclear envelope

63%

Rzepecki R.

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nr 4

EN

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.

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

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2014

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tom 19

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nr 3

EN

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

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

EN

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.

12

W cieniu Klątwy Ondyny. Medyczne i psychologiczne aspekty funkcjonowania osób z rzadką chorobą genetyczną

63%

Początek G. , Michno B.

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tom 13

213-232

EN

Congenital Central Hypoventilation Syndrome (CCHS) is a rare, life-threatening disease. CCHS affects the central and autonomic nervous system, which controls many of the body’s automatic functions. The most recognizable symptom of CCHS is the inability to control breathing to varying degrees, which results in the need to support ventilation throughout the day or only during sleep. It is estimated that there are 1200 cases of CCHS worldwide. In Poland, only 18 children have been affected by this disease, and the disease began to be talked about only quite recently in our country. Despite this, there are only few articles in Polish that could provide parents and patients with a source of knowledge and support in coping with this disease.

PL

Zespół Wrodzonej Centralnej Hipowentylacji (ang. Congenital Central Hypoventilation Syndrome, CCHS) jest chorobą zaliczaną do schorzeń rzadkich, zagrażających życiu. CCHS wpływa na centralny i autonomiczny układ nerwowy, który kontroluje wiele automatycznych funkcji organizmu. Najbardziej rozpoznawalnym objawem CCHS jest w różnym stopniu nasilona niemożność kontrolowania procesu oddychania, co implikuje konieczność wspomagania wentylacji przez całą dobę lub jedynie w trakcie snu. Szacuje się, że na całym świecie występuje jedynie 1200 przypadków CCHS. W Polsce choroba została zdiagnozowana u zaledwie 18 dzieci, jak również istnieje stosunkowo niewiele materiałów naukowych jej poświęconych, dlatego problemy, z jakimi konfrontują się rodzice chorych dzieci stosunkowo rzadko stanowią temat analiz i dyskusji. Jednakże ze względu na złożoność problemów medycznych i psychospołecznych rodzice i pacjenci oczekują publikacji, które mogłyby stanowić dla nich źródło wiedzy i wsparcia.

13

Difficult motherhood in the perception of mothers in the 1990s and today

63%

Zalewska P.

Szkoła Specjalna

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2020

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tom LXXXI(3)

213-223

EN

The article presents empirical material that allows to outline the situation of contemporary women experiencing difficult motherhood compared to women twenty years ago described by Małgorzata Kościelska (1998). Qualitative research was attended by 18 women who experienced difficult motherhood associated with unsuccessful prenatal diagnosis due to disability, genetic disease or birth defect. Fritz Schütz's autobiographical narrative interview was used. An analysis of the content of the respondents' statements reveals their concern not only for the child's health and physical development, but also for their mental well-being. Diagnosis of birth defects and genetic anomalies does not inhibit the development of the mother's emotional bond. Women undergo prenatal testing more consciously than in the 1990s. Although they are afraid of such tests, they are more worried about the child's health than about being abandoned by their husband. Their motivation to undergo prenatal tests results from their desire to remedy developmental abnormalities quickly. The possibility of pregnancy termination procedure causes a lot of extreme emotions and moral doubts. Half of the women surveyed positively assess the support within the support groups and advice on online forums, while they rarely receive institutional psychological support (5 people out of 18 respondents). Most women emphasize social ostracism. Despite the passage of 20 years since the publication of Difficult Motherhood by Małgorzata Kościelska (1998), the development of new technologies, medicine, and socio-political transformation, the situation of mothers awaiting the birth of a child and experiencing an unsuccessful diagnosis has not changed radically and requires many systemic changes.

14

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

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

EN

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

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

63%

Voutsinas G.

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tom 39

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nr 1

17

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.

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nr 4

EN

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.

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

EN

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

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

EN

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.

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

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2017

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tom 65

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nr 5