Wyniki wyszukiwania

1

Mukowiscydoza - podstawy wprowadzenia somatycznej terapii genowej

100%

Bal J.

Postępy Biochemii

|

1994

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tom 40

|

nr 2

86-90

2

Construction of plasmid vectors for gene cloning in Escherichia coli and Bacillus subtilis

63%

Bal J., Maciah I. E.

Acta Microbiologica Polonica

|

1982

|

tom 31

|

nr 3-4

3

Mukowiscydoza - od genu do terapii

63%

Bal J., Maciejko D.

Kosmos

|

1994

|

tom 43

|

nr 3-4

419-429

4

Mutacje dynamiczne.Funcja niestabilnych sekwencji DNA w niektorych chorobach genetycznych czlowieka

63%

Milewski M., Bal J.

Postępy Biochemii

|

1993

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tom 39

|

nr 4

228-236

5

Mukowiscydoza - modelowa choroba dziedziczna

63%

Bal J., Sobczynska A.

Postępy Biologii Komórki. Suplement

|

1998

|

tom 10

105-112

6

Supresory mutacji nonsens

63%

Bal J., Weglenski P.

Postępy Mikrobiologii

|

1979

|

tom 18

|

nr 1

7

Molekularne podłoże mukowiscydozy

63%

Bal J.

Postępy Biochemii

|

1991

|

tom 37

|

nr 3-4

8

Relationship between the sequence of the aggregating peptide and the pattern of intracellular accumulation

51%

Bak D., Bal J., Cutting G., Milewski M.

Acta Biochimica Polonica

|

2003

|

tom 50

|

nr Supplement 1

9

Mutations in the methyl CpG binding protein 2 (MECP2) gene as a cause of the Rett syndrome

51%

Abramowicz A., Gos M., Bal J.

Acta Neurobiologiae Experimentalis

|

2013

|

tom 73

|

nr 1

The methyl CpG binding protein 2 (MECP2), protein that binds to methylated DNA sequences and represses the expression of specific genes, is essential for normal function of mature nerve cells. The protein is encoded by MECP2 gene and its mutations are responsible for approximately 90% of all Rett syndrome (RTT) cases. RTT is a neurodevelopmental disorder that affects mainly girls. Its characteristic features include arrested psychomotor development (6–18 months), congenital impairment, loss of speech, characteristic stereotypical movements, regression of gained skills and other neuropsychiatric abnormalities. Nineteen patients with primary clinical diagnosis of RTT were referred for molecular examination. The analysis of MECP2 gene included direct sequencing of exons 2–4 and deletion/ duplication analysis using MLPA method. In nine patients we have found seven known point mutations, including three nonsense substitutions in four individuals (p.R168X, p.R255X, and p.R270X in 2 cases) and three missense changes leading to amino acids substitutions in the methyl-binding domain (p.R133C, p.K135E, p.T158M) or in the transcriptional repression domain (p.R306C in 2 cases). In three other patients, a partial deletion of MECP2 was found, including a deletion of exons 3 and 4 (encompassing 2 to 67 kb) and two different deletions of exon 4, encompassing 44 bp and 1 to 7.3 kb, respectively. Together, we were able to confirm the clinical diagnosis of Rett syndrome in 12 cases. The significant presence of large deletions encompassing entire exons suggests that the MLPA analysis should be performed as an important part of the molecular diagnosis in Rett syndrome.

10

The frequency of mutations in Exon 11 of the CF gene in Polish cystic fibrosis patients

51%

Bal J., Mazurczak T., Reiss J.

Acta Biochimica Polonica

|

1992

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tom 39

|

nr 3

Results of mutation analysis in exon II of the CF gene have been presented. Using the SSCI' technique 18 mutations (of four different types) were detected in cystic fibrosis patients of Polish origin. Thus, we were able to detect in exon 11 about 10% of all CF mutations occuring in the affected population examined.

11

The search for a genetic defect in Polish patients with chronic granulomatous disease

51%

Jurkowska M., Kurenko-Deptuch M., Bal J., Roos D.

Archivum Immunologiae et Therapiae Experimentalis

|

2004

|

tom 52

|

nr 6

12

Genetic and biochemical background of chronic granulomatous disease

51%

Jurkowska M., Bernatowska E., Bal J.

Archivum Immunologiae et Therapiae Experimentalis

|

2004

|

tom 52

|

nr 2

13

Epigenetic mechanisms of gene expression regulation in neurological diseases

45%

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

Acta Neurobiologiae Experimentalis

|

2013

|

tom 73

|

nr 1

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.

14

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Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene

45%

Milewski M., Bal J., Bocian E., Obersztyn E., Mazurczak T.

Journal of Applied Genetics

|

1996

|

tom 37

|

nr 2

Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.

15

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

39%

Kutkowska-Kazmierczak A., Niepokoj K., Wertheim-Tysarowska K., Giza A., Mordasewicz-Goliszewska M., Bal J., Obersztyn E.

Journal of Applied Genetics

|

2015

|

tom 56

|

nr 3

16

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family

33%

Niepokoj K., Rygiel A. M., Jurczak P., Kujko A. A., Sniegorska D., Sawicka J., Grabarczyk A., Bal J., Wertheim-Tysarowska K.

Journal of Applied Genetics

|

2018

|

tom 59

|

nr 1

17

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

33%

Hoffman-Zacharska D., Mazurczak T., Zajkowski T., Tataj R., Gorka-Skoczylas P., Polatynska K., Kepczynski L., Stasiolek M., Bal J.

Journal of Applied Genetics

|

2016

|

tom 57

|

nr 3

18

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients

33%

Czerska K., Sobczynska-Tomaszewska A., Sands D., Nowakowska A., Bak D., Wertheim K., Poznanski J., Zielenski J., Norek A., Bal J.

Journal of Applied Genetics

|

2010

|

tom 51

|

nr 3

Cystic fibrosis (CF) is one of the most common autosomal recessive diseases among Caucasians caused by a mutation in the CFTR gene. However, the clinical outcome of CF pulmonary disease varies remarkably even in patients with the same CFTR genotype. This has led to a search for genetic modifiers located outside the CFTR gene. The aim of this study was to evaluate the effect of functional variants in prostaglandin-endoperoxide synthase genes (COX1 and COX2) on the severity of lung disease in CF patients. To the best of our knowledge, it is the first time when analysis of COX1 and COX2 as potential CF modifiers is provided. The study included 94 CF patients homozygous for F508del mutation of CFTR. To compare their' clinical condition, several parameters were recorded, e.g. a unique clinical score: disease severity status (DSS). To analyse the effect of non-CF7X genetic polymorphisms on the clinical course of CF patients, the whole coding region of COX 1 and selected COX2 polymorphisms were analysed. Statistical analysis of genotype-phenotvpe associations revealed a relationship between the heterozygosity status of identified polymorphisms and better lung function. These results mainly concern COX2 polymorphisms: -765G>C and 8473T>C. The COX1 and COX2 polymorphisms reducing COX protein levels had a positive effect on all analysed clinical parameters. This suggests an important role of these genes as protective modifiers of pulmonary disease in CF patients, due to inhibition of arachidonic acid conversion into prostaglandins, which probably reduces the inflammatory process.

19

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

33%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

|

1996

|

tom 43

|

nr 2

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

20

Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome

33%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

|

1996

|

tom 43

|

nr 2

Ograniczanie wyników

Mukowiscydoza - podstawy wprowadzenia somatycznej terapii genowej

Construction of plasmid vectors for gene cloning in Escherichia coli and Bacillus subtilis

Mukowiscydoza - od genu do terapii

Mutacje dynamiczne.Funcja niestabilnych sekwencji DNA w niektorych chorobach genetycznych czlowieka

Mukowiscydoza - modelowa choroba dziedziczna

Supresory mutacji nonsens

Molekularne podłoże mukowiscydozy

Relationship between the sequence of the aggregating peptide and the pattern of intracellular accumulation

Mutations in the methyl CpG binding protein 2 (MECP2) gene as a cause of the Rett syndrome

The frequency of mutations in Exon 11 of the CF gene in Polish cystic fibrosis patients

The search for a genetic defect in Polish patients with chronic granulomatous disease

Genetic and biochemical background of chronic granulomatous disease

Epigenetic mechanisms of gene expression regulation in neurological diseases

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome