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  1. Article ; Online: Models for IGHMBP2-associated diseases: an overview and a roadmap for the future.

    Rzepnikowska, Weronika / Kochański, Andrzej

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 12, Page(s) 1266–1278

    Abstract: Models are practical tools with which to establish the basic aspects of a diseases. They allow systematic research into the significance of mutations, of cellular and molecular pathomechanisms, of therapeutic options and of functions of diseases ... ...

    Abstract Models are practical tools with which to establish the basic aspects of a diseases. They allow systematic research into the significance of mutations, of cellular and molecular pathomechanisms, of therapeutic options and of functions of diseases associated proteins. Thus, disease models are an integral part of the study of enigmatic proteins such as immunoglobulin mu-binding protein 2 (IGHMBP2). IGHMBP2 has been well defined as a helicase, however there is little known about its role in cellular processes. Notably, it is unclear why changes in such an abundant protein lead to specific neuronal disorders including spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S). SMARD1 is caused by a loss of motor neurons in the spinal cord that results in muscle atrophy and is accompanied by rapid respiratory failure. In contrast, CMT2S manifests as a severe neuropathy, but typically without critical breathing problems. Here, we present the clinical manifestation of IGHMBP2 mutations, function of protein and models that may be used for the study of IGHMBP2-associated disorders. We highlight the strengths and weaknesses of specific models and discuss the orthologs of IGHMBP2 that are found in different systems with regard to their similarity to human IGHMBP2.
    MeSH term(s) Animals ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/physiopathology ; Charcot-Marie-Tooth Disease/therapy ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/physiology ; Disease Models, Animal ; Humans ; Induced Pluripotent Stem Cells ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/physiopathology ; Muscular Atrophy, Spinal/therapy ; Respiratory Distress Syndrome, Newborn/genetics ; Respiratory Distress Syndrome, Newborn/physiopathology ; Respiratory Distress Syndrome, Newborn/therapy ; Saccharomyces cerevisiae ; Transcription Factors/genetics ; Transcription Factors/physiology
    Chemical Substances DNA-Binding Proteins ; IGHMBP2 protein, human ; Transcription Factors
    Language English
    Publishing date 2021-08-13
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.08.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Jg. 1995 - 2021: Lesesall (2.OG)
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  2. Article ; Online: Validation of the Pathogenic Effect of

    Rzepnikowska, Weronika / Kaminska, Joanna / Kochański, Andrzej

    International journal of molecular sciences

    2022  Volume 23, Issue 17

    Abstract: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, ...

    Abstract Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene,
    MeSH term(s) DNA-Binding Proteins/genetics ; Humans ; Muscular Atrophy, Spinal/genetics ; Mutation ; Neurodegenerative Diseases ; Saccharomyces cerevisiae/genetics ; Transcription Factors/genetics
    Chemical Substances DNA-Binding Proteins ; IGHMBP2 protein, human ; Transcription Factors
    Language English
    Publishing date 2022-08-31
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms23179913
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Analysis of the Innovative Channel Strut Concept Manufactured by Roll-Forming.

    Kochański, Andrzej / Czyżewski, Piotr / Cacko, Robert / Roznowski, Mariusz

    Materials (Basel, Switzerland)

    2022  Volume 15, Issue 3

    Abstract: Due to the wide use of channel strut components, manufacturing is implemented in many industrial plants. Standard technology of profiles is based on welding of two parts of the profile and requires the regalvanizing of the joint zone causes. Thus, the ... ...

    Abstract Due to the wide use of channel strut components, manufacturing is implemented in many industrial plants. Standard technology of profiles is based on welding of two parts of the profile and requires the regalvanizing of the joint zone causes. Thus, the production is challenging to automate on a single line. The main idea of the article is to present a concept of a channel strut, a cold-formed continuous metal component with an open or closed profile section. It would serve as a cantilever support instead of a standard solution. In the article, a unique lock system combination is proposed and analyzed both numerically and experimentally to provide steadiness of the strut without welding or other joining techniques. Two main lock shapes-semicircular and triangle-were proposed with some variations in the cutting plane. Analyses were carried out for three main profile cross-sections with different dimensions, based on the current industrial applications. The semicircular type of the lock was found to be the most stable, giving optimal strength to the strut under assumed loading, comparable to traditional solutions. The commercial FEM software MSC Marc was used for the numerical analysis.
    Language English
    Publishing date 2022-01-31
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2487261-1
    ISSN 1996-1944
    ISSN 1996-1944
    DOI 10.3390/ma15031107
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?

    Kabzińska, Dagmara / Chabros, Katarzyna / Kamińska, Joanna / Kochański, Andrzej

    Genes

    2022  Volume 13, Issue 9

    Abstract: Charcot−Marie−Tooth disorders (CMT) represent a highly heterogeneous group of diseases of the peripheral nervous system in which more than 100 genes are involved. In some CMT patients, a few weak sequence variants toward other CMT genes are detected ... ...

    Abstract Charcot−Marie−Tooth disorders (CMT) represent a highly heterogeneous group of diseases of the peripheral nervous system in which more than 100 genes are involved. In some CMT patients, a few weak sequence variants toward other CMT genes are detected instead of one leading CMT mutation. Thus, the presence of a few variants in different CMT-associated genes raises the question concerning the pathogenic status of one of them. In this study, we aimed to analyze the pathogenic effect of c.664G>A, p.Glu222Lys variant in the GDAP1 gene, whose mutations are known to be causative for CMT type 4A (CMT4A). Due to low penetrance and a rare occurrence limited to five patients from two Polish families affected by the CMT phenotype, there is doubt as to whether we are dealing with real pathogenic mutation. Thus, we aimed to study the pathogenic effect of the c.664G>A, p.Glu222Lys variant in its natural environment, i.e., the neuronal SH-SY5Y cell line. Additionally, we have checked the pathogenic status of p.Glu222Lys in the broader context of the whole exome. We also have analyzed the impact of GDAP1 gene mutations on the morphology of the transfected cells. Despite the use of several tests to determine the pathogenicity of the p.Glu222Lys variant, we cannot point to one that would definitively solve the problem of pathogenicity.
    MeSH term(s) Charcot-Marie-Tooth Disease/genetics ; Humans ; Mutation ; Nerve Tissue Proteins/genetics ; Neuroblastoma ; Phenotype
    Chemical Substances Nerve Tissue Proteins
    Language English
    Publishing date 2022-08-27
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13091546
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Bridgman-Grown (Cd,Mn)Te and (Cd,Mn)(Te,Se): A Comparison of Suitability for X and Gamma Detectors.

    Masłowska, Aneta / Kochanowska, Dominika M / Sulich, Adrian / Domagala, Jaroslaw Z / Dopierała, Marcin / Kochański, Michał / Szot, Michał / Chromiński, Witold / Mycielski, Andrzej

    Sensors (Basel, Switzerland)

    2024  Volume 24, Issue 2

    Abstract: This study explores the suitability of (Cd,Mn)Te and (Cd,Mn)(Te,Se) as room-temperature X-ray and gamma-ray detector materials, grown using the Bridgman method. The investigation compares their crystal structure, mechanical and optical properties, and ... ...

    Abstract This study explores the suitability of (Cd,Mn)Te and (Cd,Mn)(Te,Se) as room-temperature X-ray and gamma-ray detector materials, grown using the Bridgman method. The investigation compares their crystal structure, mechanical and optical properties, and radiation detection capabilities. Both crystals can yield large-area single crystal samples measuring approximately 30 × 30 mm
    Language English
    Publishing date 2024-01-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2052857-7
    ISSN 1424-8220 ; 1424-8220
    ISSN (online) 1424-8220
    ISSN 1424-8220
    DOI 10.3390/s24020345
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: The impact of Professor Irena Hausmanowa-Petrusewicz studies on the development of genetics of neuromuscular disorders

    Andrzej Kochański

    Family Medicine & Primary Care Review, Vol 17, Iss 4, Pp 319-

    2015  Volume 322

    Keywords Medicine ; R
    Language English
    Publishing date 2015-12-01T00:00:00Z
    Publisher Continuo
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

    Weronika Rzepnikowska / Joanna Kaminska / Andrzej Kochański

    International Journal of Molecular Sciences, Vol 23, Iss 9913, p

    2022  Volume 9913

    Abstract: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, ...

    Abstract Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, IGHMBP2 , is well defined, information on IGHMBP2 mutations is not always sufficient to diagnose particular patients, as the gene is highly polymorphic and the pathogenicity of many gene variants is unknown. In this study, we generated a simple yeast model to establish the significance of IGHMBP2 variants for disease development, especially those that are missense mutations. We have shown that cDNA of the human gene encodes protein which is functional in yeast cells and different pathogenic mutations affect this functionality. Furthermore, there is a correlation between the phenotype estimated in in vitro studies and our results, indicating that our model may be used to quickly and simply distinguish between pathogenic and non-pathogenic mutations identified in IGHMBP2 in patients.
    Keywords SMARD1 ; IGHMBP2 gene ; missense mutations ; disease model ; yeast Saccharomyces cerevisiae ; CMT2S ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Subject code 570
    Language English
    Publishing date 2022-08-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny

    Andrzej Kochański

    Studia Ecologiae et Bioethicae, Vol 12, Iss

    2014  Volume 1

    Abstract: In recent years we have observed a technological revolution in genetics. For years molecular diagnostics in genetic disorders were limited to a single gene or to a group of genes. The technological breakdown in molecular genetics relies on the change of ... ...

    Abstract In recent years we have observed a technological revolution in genetics. For years molecular diagnostics in genetic disorders were limited to a single gene or to a group of genes. The technological breakdown in molecular genetics relies on the change of perspective from the analysis of a single gene to the whole genome sequencing (WGS) or whole-exome sequencing (WES). The exome is defined as a coding part of the genome consisting of the coding parts (exons) of all genes. Thus, at present geneticists have access to the whole genome instead of separate/selected genes. Clinical genetics in the era of genomic sequencing has to cope with new challenges concerning the confidentiality of genetic data, genetic discrimination, genetic and clinical determinism, or incidental findings detected in genome analysis. This short review attempts to demonstrate the ethical challenges faced in the era of genome sequencing.
    Keywords poufność danych ; determinizm genetyczny i kliniczny ; dyskryminacja genetyczna ; znaleziska przypadkowe ; sekwencjonowanie eksomu ; sekwencjonowanie genomu ; Environmental sciences ; GE1-350 ; Ecology ; QH540-549.5 ; Philosophy (General) ; B1-5802
    Language English
    Publishing date 2014-03-01T00:00:00Z
    Publisher Wydawnictwo Naukowe Uniwersytetu Kardynała Stefana Wyszyńskiego
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Pathogenic Effect of

    Rzepnikowska, Weronika / Kaminska, Joanna / Kabzińska, Dagmara / Kochański, Andrzej

    Genes

    2020  Volume 11, Issue 3

    Abstract: The question of whether a newly identified sequence variant is truly a causative mutation is a central problem of modern clinical genetics. In the current era of massive sequencing, there is an urgent need to develop new tools for assessing the ... ...

    Abstract The question of whether a newly identified sequence variant is truly a causative mutation is a central problem of modern clinical genetics. In the current era of massive sequencing, there is an urgent need to develop new tools for assessing the pathogenic effect of new sequence variants. In Charcot-Marie-Tooth disorders (CMT) with their extreme genetic heterogeneity and relatively homogenous clinical presentation, addressing the pathogenic effect of rare sequence variants within 80 CMT genes is extremely challenging. The presence of multiple rare sequence variants within a single CMT-affected patient makes selection for the strongest one, the truly causative mutation, a challenging issue. In the present study we propose a new yeast-based model to evaluate the pathogenic effect of rare sequence variants found within the one of the CMT-associated genes,
    MeSH term(s) Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/pathology ; Gene Expression Regulation/genetics ; Genetic Heterogeneity ; Humans ; Mitochondria/genetics ; Mutation/genetics ; Nerve Tissue Proteins/genetics ; Saccharomyces cerevisiae/genetics
    Chemical Substances GDAP protein ; Nerve Tissue Proteins
    Language English
    Publishing date 2020-03-14
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes11030310
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Application of the Numerical Model to Design the Geometry of a Unit Tool in the Innovative RTH Hydroforming Technology.

    Sadłowska, Hanna / Kochański, Andrzej / Czapla, Magdalena

    Materials (Basel, Switzerland)

    2020  Volume 13, Issue 23

    Abstract: The article presents a newly patented rapid tube hydroforming (RTH) manufacturing method, perfectly suited to single-piece production. The RTH technology significantly complements the scope of hydroforming processes. Due to the unusual granular material ... ...

    Abstract The article presents a newly patented rapid tube hydroforming (RTH) manufacturing method, perfectly suited to single-piece production. The RTH technology significantly complements the scope of hydroforming processes. Due to the unusual granular material of the die tool, in particular moulding sand or mass, the process design requires the use of numerical modelling calculations. This is related to the complexity and the synergistic effect of process parameters on the final shape of the product. The work presents the results of numerical modelling studies of the process, including the behaviour of the die material and the material of the hydroformed profile. The numerical calculations were performed for a wide range of parameters, and can be used in various applications. The significant properties of moulding material used for the RTH tests were determined and one was chosen to build the die in RTH experiments. The results of the numerical modelling were compared with the results of the experiments, which proved their high compatibility. The final conclusions of the analyses indicate that the RTH technology has many possibilities that are worth further development and research.
    Language English
    Publishing date 2020-11-28
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2487261-1
    ISSN 1996-1944
    ISSN 1996-1944
    DOI 10.3390/ma13235427
    Database MEDical Literature Analysis and Retrieval System OnLINE

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