Wyniki wyszukiwania - Biblioteka Nauki

1

Epigenetic mechanisms of gene expression regulation in neurological diseases

100%

Gos M.

|

tom 73

|

nr 1

EN

Neurological diseases are a heterogenous group of disorders that are related to alterations in nervous system function. The genetic background of neurological diseases is heterogenous and may include chromosomal aberrations, specific gene mutations and epigenetic defects. This review is aimed at presenting of selected diseases that are associated with different epigenetic alterations. The imprinting defects on chromosome 15 are the cause of Prader-Willi and Angelman syndromes that both are characterized by intellectual disability, developmental delay and specific behavioral phenotype. Besides the imprinting defect, these diseases can also be caused by deletion of chromosome 15 or uniparental disomy. Aberrant epigenetic regulation is also specific for Fragile X syndrome that is caused by expansion of CGG repeats in the FMR1 gene that leads to global methylation of the promoter region and repression of FMR1 transcription. A number of neurological diseases, mainly associated with intellectual impairment, may be caused by mutations in genes encoding proteins involved in epigenetic regulation. The number of such diseases is rapidly growing thanks to the implementation of genomic sequencing for the identification of their molecular causes. One of the best known diseases linked to defects in epigenetic modifiers is Rett syndrome caused by a mutation in the MECP2 gene or its variant - Rett-like syndrome caused by a mutation in CDKL5 or FOXG1 genes. As the epigenetic signature is potentially reversible, much attention is focused on possible therapies with drugs that influence DNA or histone modifications. This is especially important in the case of neurological disorders in which epigenetic changes are observed as the effect of the disease.

2

Splicing mutations in human genetic disorders: examples, detection, and confirmation

63%

Abramowicz A. , Gos M.

|

tom 59

|

nr 3

3

Niskotemperaturowe właściwości olejów silnikowych i metody ich modyfikacji

63%

Łuska A. , Gos M.

|

tom nr 3

CD-CD

4

Zmiany szaty roslinnej torfowiska weglanowego Sawin po jego pelnym zagospodarowaniu rolniczym

63%

Fijalkowski D. , Gos M.

Annales Universitatis Mariae Curie-Sklodowska. Sectio C, Biologia

|

1995

|

tom 50

91-111

5

Eksploatacyjne aspekty charakterystyki reologicznej środków smarowych

51%

Łuksa A. , Szajner M. , Gos M.

Logistyka

|

2009

|

tom nr 3

CD-CD

PL

Współczesne silniki samochodowe wymagaj. od olejów silnikowych specyficznych właściwości reologicznych. W referacie przedstawiono najważniejsze zagadnienia z tego zakresu, a także omówiono współczesne kierunki ewolucji olejów silnikowych, ze szczególnym uwzględnieniem modyfikacji właściwości lepkościowych baz olejowych przy pomocy wysokorafinowanych komponentów pozostałościowych oraz dodatków polimerowych i innych. Odniesiono się również do zastosowania olejów roślinnych, jako bazy do produkcji środków smarowych oraz do krajowych możliwości produkcyjnych.

EN

Modern car engines require specific rheological properties of motor oils. The most important problems about and modern directions of engine oils evolution with particular comply of modifications of base oils viscosity properties by highly refined residual components, polymer additives and other were shown. Using of vegetable oils as base for producing lubricants and domestic industry production possibilities were also mentioned.

6

Forecasting daily meteorological time series using ARIMA and regression models

51%

Murat M. , Malinowska I. , Gos M. , Krzyszczak J.

|

nr 2

7

Loop G of the GABAA receptor orthosteric binding site is involved in the final stages of channel gating

51%

Brodzki M. , Michalowski M. A. , Gos M. , Mozrzymas J. W.

|

2019

|

tom 79

|

nr Suppl.1

EN

INTRODUCTION: Inhibition of neuronal activity is shaped primarily by GABAA receptors. Agonist binding site (BS) at the β+/α‑ intersubunit interface is composed of 7 loops (A‑C from β and D‑G from α subunit), and the Loop G has been reported to play a major role in receptor activation, however the exact mechanism is not clear. α1F45 residue at Loop G has been shown to be engaged in receptor activation despite not directly contacting the agonist, and is well positioned for interactions with other crucial BS residues. Since this loop spans from the BS to the extracellular-transmembrane domain interface, it might have an important role in transferring energy of BS conformational transitions to the pore region. AIM(S): This study aims to reveal the role of loop G in distinct steps of receptor activation. METHOD(S): We used rapid agonist application to elicit macroscopic responses and single-channel recordings of GABA-evoked currents for wild-type (WT) and mutated (α1F45C/L/K/G) receptors. Model simulations of macroscopic and single-channel activity and in silico structural analysis have been performed. RESULTS: Mutated receptors showed a different kinetic profile of macroscopic currents (except α1F45L) with faster deactivation (α1F45C/K/G) and impaired desensitization (α1F45C/G). Single‑channel currents showed profound differences in all mutants; that is, closures were prolonged, openings were shortened, and Popen within bursts was reduced. Model simulations revealed changes primarily in opening/closing transitions. The homology model of WT showed loop G energy minimum at the α1F45 position, underlining its role in loop stability. In α1F45G/K mutants, this minimum declined. In α1F45G mutant, it can be attributed to the BS aromatic box disruption and α1F45K substitution could impair the GABA – α1R66 interaction. CONCLUSIONS: Mutations of the α1F45 residue in loop G of the BS affects final gating stages. This indicates the role of loop G in linking binding and gating processes. FINANCIAL SUPPORT: Supported by NCN grant UMO‑2015/18/A/NZ1/00395.

8

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2

51%

Laniewski-Wollk M. , Gos M. , Koziarski A. , Szpecht-Potocka A.

|

nr 3

297-300

EN

Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 - bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c,1001_1002insG, c,1029_1030insCC, c.774_778dupGAATG). In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation. The molecular defects in sporadic cases of NF2 are still being discussed.

9

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

51%

Kutkowska-Kazmierczak A. , Gos M. , Obersztyn E.

|

tom 59

|

nr 2

10

Metody molekularne w ocenie czynników rokowniczych w przewlekłej białaczce limfocytowej/chłoniaku limfocytarnym (CLL/SLL)

51%

Gos M. , Grygalewicz B. , Pieńkowska B. , Malecki M.

|

2008

|

tom 44

|

nr 4

11

Diagnostics of the state of oil-paper insulation in group 2 transformers

51%

Gos A. , Gos M. , Mroczkowski P.

|

2014

|

tom no. 3

73--81

EN

The article describes causes of the need to monitor the technical condition of transformers by analysing the physicochemical properties of the oil-paper insulation. The article also describes the importance of individual indicators determining the quality of transformer oil and discusses the results of the operating oil in a 49-year-old transformer before and after exchange.

PL

W artykule opisano przyczyny konieczności monitorowania stanu technicznego transformatorów poprzez analizę właściwości fizykochemicznych izolacji papierowo-olejowej. Opisano znaczenie poszczególnych wskaźników decydujących o jakości oleju transformatorowego oraz omówiono wyniki oleju pracującego w 49-letnim transformatorze przed i po jego wirowaniu.

12

Rola przejścia epitelialno-mezenchymalnego w progresji nowotworu

51%

Gos M. , Miloszewska J. , Przybyszewska M.

|

tom 55

|

nr 2

13

Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects

51%

Gos M. , Sliwerska E. , Szpecht-Potocka A.

Journal of Applied Genetics

|

2004

|

tom 45

|

nr 3

14

The role of FNIII/10 and FNIII/10 RGD fibronectin ragments in contant inhibition of C3H10T1/2 cells

45%

Miloszewska J. , Gos M. , Trembacz H. , Przybyszewska M. , Janik P.

|

nr Supplement 1

15

Metastatic capacity stimulated by cancer cells cultivation in non-adhesive conditions

45%

Gos M. , Miloszewska J. , Trembacz H. , Przybyszewska M. , Janik P.

|

2006

|

tom 53

|

nr Supplement 1

16

Cancer stem cells from mouse sarcoma cell line- L1: preliminary results

45%

Miloszewska J. , Gos M. , Przybyszewska M. , Szaniawska B. , Trembacz H.

|

2006

|

tom 53

|

nr Supplement 1

17

Epigenetic mechanisms of gene expression regulation in neurological diseases

45%

Gos M. , Rzonca S. , Szopa D. , Abramowicz A. , Bal J.

|

tom 73

|

nr 1

EN

Neurological diseases, including intellectual disability (ID), can be caused by disturbances in epigenetic regulation of specific genes that encode proteins necessary for appropriate central nervous system functioning. The “epigenetically caused” diseases can be due to the imprinting defects formed during germinal cells development or gained throughout life as a somatic changes. They can also result from abnormal functioning of transcriptional machinery caused by mutations in genes coding for specific proteins. Two most classical examples of disease caused by imprinting defect in germinal cells are Prader-Willi and Angelman syndromes, both characterized by ID and developmental delay. Both these diseases are caused by altered epigenetic regulation of genes localized on chromosome 15 (region q11–q13) that can be due to chromosome deletion or uniparental disomy. The other neurological disease that is related to abnormal epigenetic regulation is Fragile X syndrome characterized by ID and specific behavior. Almost all disease cases are due to the expansion of CGG repeat (>200) in the 5’UTR of FMR1 gene that leads to promoter methylation and lack of FMRP protein that is indispensable for neuron development and signaling. The example of neurological “epigenetic diseases” caused by altered transcriptional regulation is Rett syndrome caused by the mutation presence in MECP2 gene or its variant – Rett-like syndrome caused by the mutation in CDKL5 gene. Both these diseases are characterized by ID and childhood epilepsy. Herein, we present our experience from the research and diagnosis of above mentioned disorders in the context of neurological pathways altered by improper epigenetic regulation.

18

CT substitution in the promoter region of CYP17 gene and prostate cancer risk

45%

Gos M. , Sadowska M. , Grzegrzolka M. , Demkow T. , Janik P.

|

nr Supplement 1

19

Znaczenie cystometrii przepływowej w diagnostyce białaczki z dużych ziarnistych limfocytów T

38%

Blachnio K. , Rymkiewicz G. , Gos M. , Sadowski T. , Borawska A. , Ptaszynski K.

Diagnostyka Laboratoryjna

|

2009

|

tom 45

|

nr 2

20

Metody analizy DNA - laboratorium genetyczne - cz. I

38%

Gos M. , Wertheim-Tysarowska K. , Rzońca S. , Nowakowska B. , Charzewska A. , Hoffman-Zacharska D.

Laboratorium - Przegląd Ogólnopolski

|

2013

|

tom nr 11-12

29--34

PL

W pracy omówione zostały wybrane metody molekularne stosowane rutynowo w diagnostyce chorób genetycznie uwarunkowanych, w tym metody podstawowe, takie jak reakcja łańcuchowej polimerazy (PCR), sekwencjonowanie metodą Sangera czy hybrydyzacja kwasów nukleinowych. Uwzględniono także nowoczesne metody molekularne, takie jak multipleksowa amplifikacja sond zależna od ligacji (MLPA), porównawcza hybrydyzacja genomowa do mikromacierzy (aCGH) czy sekwencjonowanie następnej generacji.

EN

The paper discusses selected molecular methods routinely used in the diagnosis of inherited diseases, including basic methods such as polymerase chain reaction (PCR), Sanger sequencing or nucleic acid hybridization. Also modern molecular methods such as Multiplex ligation-dependent probe amplifi cation (MLPA), array-comparative genomic hybridization (aCGH) and nextgeneration sequencing (NGS).