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Book: Molecular aspects of hematologic malignancies

Witt, Michał / Dawidowska, Małgorzata / Szczepański, Tomasz

diagnostic tools and clinical applications

(Principles and practice)

2012

Author's details	Michal Witt ; Malgorzata Dawidowska ; Tomasz Szczepański ed
Series title	Principles and practice
Keywords	Blood--Diseases--Molecular aspects ; Blood--Diseases--Diagnosis ; Blood--Diseases--Treatment ; Hematology ; Leukämie ; Malignes Lymphom ; Molekulare Medizin
Subject	Medizin ; Genmedizin ; Bösartige Lymphome ; Lymphosarkom ; Blutkrebs
Subject code	616.15
Language	English
Size	X, 476 S. : Ill., graph. Darst., 24 cm
Publisher	Springer
Publishing place	Heidelberg u.a.
Publishing country	Germany
Document type	Book
Note	Teilw. aus dem Poln. übers.
HBZ-ID	HT017367934
ISBN	978-3-642-29466-2 ; 3-642-29466-9 ; 9783642294679 ; 3642294677
Database	Catalogue ZB MED Medicine, Health

In stock of ZB MED Cologne/Königswinter

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2012 A 3530	order for loan	Magazin

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Article ; Online: Inheritance vs. infectivity as a mechanism of malady and death of Frederic Chopin.

Witt, Michał / Dobosz, Tadeusz

Journal of applied genetics

2021 Volume 62, Issue 4, Page(s) 607–611

Abstract: Based on a macroscopic analysis of the heart of Frederic Chopin performed in 2014, it can be stated with high probability that the composer suffered from a long lasting tuberculosis as a primary disease, which was the cause of progressive deterioration ... ...

Abstract	Based on a macroscopic analysis of the heart of Frederic Chopin performed in 2014, it can be stated with high probability that the composer suffered from a long lasting tuberculosis as a primary disease, which was the cause of progressive deterioration of his physical condition and numerous symptoms mainly from the respiratory tract. Tuberculous pericarditis rapidly progressing within a rather short period of time, a relatively rare complication of diffuse tuberculosis, might have been an immediate cause of death. This would aptly coincide with a startling opinion that in an autopsy picture the composer's heart had been more affected by the disease than the lungs.
MeSH term(s)	Famous Persons ; Humans ; Music ; Tuberculosis
Language	English
Publishing date	2021-08-04
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-021-00651-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Inheritance vs. infectivity as a mechanism of malady and death of Frederic Chopin

Witt, Michał / Dobosz, Tadeusz

Journal of applied genetics. 2021 Dec., v. 62, no. 4

2021

Abstract	Based on a macroscopic analysis of the heart of Frederic Chopin performed in 2014, it can be stated with high probability that the composer suffered from a long lasting tuberculosis as a primary disease, which was the cause of progressive deterioration of his physical condition and numerous symptoms mainly from the respiratory tract. Tuberculous pericarditis rapidly progressing within a rather short period of time, a relatively rare complication of diffuse tuberculosis, might have been an immediate cause of death. This would aptly coincide with a startling opinion that in an autopsy picture the composer’s heart had been more affected by the disease than the lungs.
Keywords	death ; heart ; necropsy ; pathogenicity ; pericarditis ; probability ; tuberculosis
Language	English
Dates of publication	2021-12
Size	p. 607-611.
Publishing place	Springer Berlin Heidelberg
Document type	Article
Note	Review
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-021-00651-2
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Perspectives for Primary Ciliary Dyskinesia.

Bukowy-Bieryllo, Zuzanna / Witt, Michal / Zietkiewicz, Ewa

International journal of molecular sciences

2022 Volume 23, Issue 8

Abstract: Primary ciliary dyskinesia (PCD) is a ciliopathy caused by genetically determined impairment of motile cilia-organelles present on the surface of many types of cells [ ... ]. ...

Abstract	Primary ciliary dyskinesia (PCD) is a ciliopathy caused by genetically determined impairment of motile cilia-organelles present on the surface of many types of cells [...].
MeSH term(s)	Cilia ; Ciliary Motility Disorders/genetics ; Humans ; Mutation
Language	English
Publishing date	2022-04-08
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23084122
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: How far musicality and perfect pitch are derived from genetic factors?

Szyfter, Krzysztof / Witt, Michał P

Journal of applied genetics

2020 Volume 61, Issue 3, Page(s) 407–414

Abstract: There is an agreement about joint genetic and environmental background of musical reception and performance. Musical abilities tend to cluster in families. The studies done on a random population, twins and families of gifted musicians provided a strong ... ...

Abstract	There is an agreement about joint genetic and environmental background of musical reception and performance. Musical abilities tend to cluster in families. The studies done on a random population, twins and families of gifted musicians provided a strong support for genetic contribution. Modern biomolecular techniques exploring linkage analysis, variation of gene copy number, scanning for whole-genome expression helped to identify genes, or chromosome regions associated with musical aptitude. Some studies were focused on rare ability to recognize tone without reference that is known as a perfect pitch where a far ethnic differentiation was established. On the other hand, gene deletion leading to dysfunction in amusical individuals also indicated appropriate loci "by negation." The strongest support for an association of genes with musicality was provided for genes: AVPR1 (12q14.2), SLC6A4 (17q11.2), GALM (2p22), PCDH7 (4p15.1), GATA2 (3q21.3), and few others as well for 4q22, 4q23, and 8q13-21 chromosome bands.
MeSH term(s)	Cadherins/genetics ; Carbohydrate Epimerases/genetics ; GATA2 Transcription Factor/genetics ; Gene Dosage ; Humans ; Inheritance Patterns ; Music ; Pitch Discrimination ; Receptors, Vasopressin/genetics ; Serotonin Plasma Membrane Transport Proteins/genetics ; Twin Studies as Topic
Chemical Substances	AVPR1A protein, human ; Cadherins ; GATA2 Transcription Factor ; GATA2 protein, human ; PCDH7 protein, human ; Receptors, Vasopressin ; SLC6A4 protein, human ; Serotonin Plasma Membrane Transport Proteins ; Carbohydrate Epimerases (EC 5.1.3.-) ; galactose mutarotase (EC 5.1.3.3)
Language	English
Publishing date	2020-06-12
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-020-00563-7
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: How far musicality and perfect pitch are derived from genetic factors?

Szyfter, Krzysztof / Witt, Michał P

Journal of applied genetics. 2020 Sept., v. 61, no. 3

2020

Abstract	There is an agreement about joint genetic and environmental background of musical reception and performance. Musical abilities tend to cluster in families. The studies done on a random population, twins and families of gifted musicians provided a strong support for genetic contribution. Modern biomolecular techniques exploring linkage analysis, variation of gene copy number, scanning for whole-genome expression helped to identify genes, or chromosome regions associated with musical aptitude. Some studies were focused on rare ability to recognize tone without reference that is known as a perfect pitch where a far ethnic differentiation was established. On the other hand, gene deletion leading to dysfunction in amusical individuals also indicated appropriate loci “by negation.” The strongest support for an association of genes with musicality was provided for genes: AVPR1 (12q14.2), SLC6A4 (17q11.2), GALM (2p22), PCDH7 (4p15.1), GATA2 (3q21.3), and few others as well for 4q22, 4q23, and 8q13–21 chromosome bands.
Keywords	GATA transcription factors ; gene deletion ; gene dosage
Language	English
Dates of publication	2020-09
Size	p. 407-414.
Publishing place	Springer Berlin Heidelberg
Document type	Article
Note	NAL-AP-2-clean ; Review
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-020-00563-7
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Genetic data protection as an indispensable element of genomic medicine development.

Madej, Małgorzata / Karpiński, Paweł / Akopyan, Hayane / Witt, Michał / Sąsiadek, Maria M

Polish archives of internal medicine

2023 Volume 133, Issue 2

Abstract: The immense progress in molecular biology observed in the last decades has led to a fundamental change in our understanding of the etiology of human diseases. Whole genome analyses, both DNA sequencing and microarray comparative genomic hybridization, ... ...

Abstract	The immense progress in molecular biology observed in the last decades has led to a fundamental change in our understanding of the etiology of human diseases. Whole genome analyses, both DNA sequencing and microarray comparative genomic hybridization, allowed for identification of previously unknown diseases and syndromes. Therefore, in difficult‑to‑diagnose cases, clinical diagnosis is being replaced by molecular diagnosis (molecular dysmorphology, genomic medicine). For both scientific development of human genetics and clinical characteristics of rare genetic diseases, the construction and sharing of internationally available large databases has become crucial. However, genetic data have to be considered on the individual level too; therefore, they have to be treated as sensitive personal information. The context of ethical and legal risks involved in genetic testing has been long analyzed, although recognition of personal data protection issues is a more recent topic. The respective legal acts and protective measures should take into account several different aspects. The present paper explores major benefits and risks associated with international sharing of vast databases of genetic material, and presents legal provisions applied in the European Union, the United States, and China. The latter part is based on the respective acts themselves, as well as on analyses and commentaries by other scholars.
MeSH term(s)	Humans ; United States ; Comparative Genomic Hybridization ; Genomic Medicine ; Genetic Testing ; Computer Security
Language	English
Publishing date	2023-02-10
Publishing country	Poland
Document type	Journal Article
ZDB-ID	123500-x
ISSN	1897-9483 ; 0032-3772
ISSN (online)	1897-9483
ISSN	0032-3772
DOI	10.20452/pamw.16425
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: DNA Methylation in T-Cell Acute Lymphoblastic Leukemia: In Search for Clinical and Biological Meaning.

Maćkowska, Natalia / Drobna-Śledzińska, Monika / Witt, Michał / Dawidowska, Małgorzata

International journal of molecular sciences

2021 Volume 22, Issue 3

Abstract: Distinct DNA methylation signatures, related to different prognosis, have been observed across many cancers, including T-cell acute lymphoblastic leukemia (T-ALL), an aggressive hematological neoplasm. By global methylation analysis, two major phenotypes ...

Abstract	Distinct DNA methylation signatures, related to different prognosis, have been observed across many cancers, including T-cell acute lymphoblastic leukemia (T-ALL), an aggressive hematological neoplasm. By global methylation analysis, two major phenotypes might be observed in T-ALL: hypermethylation related to better outcome and hypomethylation, which is a candidate marker of poor prognosis. Moreover, DNA methylation holds more than a clinical meaning. It reflects the replicative history of leukemic cells and most likely different mechanisms underlying leukemia development in these T-ALL subtypes. The elucidation of the mechanisms and aberrations specific to (epi-)genomic subtypes might pave the way towards predictive diagnostics and precision medicine in T-ALL. We present the current state of knowledge on the role of DNA methylation in T-ALL. We describe the involvement of DNA methylation in normal hematopoiesis and T-cell development, focusing on epigenetic aberrations contributing to this leukemia. We further review the research investigating distinct methylation phenotypes in T-ALL, related to different outcomes, pointing to the most recent research aimed to unravel the biological mechanisms behind differential methylation. We highlight how technological advancements facilitated broadening the perspective of the investigation into DNA methylation and how this has changed our understanding of the roles of this epigenetic modification in T-ALL.
MeSH term(s)	Cell Differentiation/genetics ; Cell Proliferation/genetics ; DNA Methylation ; Epigenesis, Genetic ; Gene Expression Regulation, Leukemic ; Hematopoiesis/genetics ; Humans ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/blood ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/mortality ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/pathology ; Prognosis ; T-Lymphocytes/pathology
Language	English
Publishing date	2021-01-30
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22031388
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: CRISPRi for specific inhibition of miRNA clusters and miRNAs with high sequence homology.

Drobna-Śledzińska, Monika / Maćkowska-Maślak, Natalia / Jaksik, Roman / Dąbek, Paulina / Witt, Michał / Dawidowska, Małgorzata

Scientific reports

2022 Volume 12, Issue 1, Page(s) 6297

Abstract: miRNAs form a class of noncoding RNAs, involved in post-transcriptional regulation of gene expression, broadly studied for their involvement in physiological and pathological context. Inhibition of mature miRNA transcripts, commonly used in miRNA loss-of- ...

Abstract	miRNAs form a class of noncoding RNAs, involved in post-transcriptional regulation of gene expression, broadly studied for their involvement in physiological and pathological context. Inhibition of mature miRNA transcripts, commonly used in miRNA loss-of-function experiments, may not be specific in case of miRNAs with high sequence homology, e.g. miRNAs from the same seed family. Phenotypic effects of miRNA repression might be biased by the repression of highly similar miRNAs. Another challenge is simultaneous inhibition of multiple miRNAs encoded within policistronic clusters, potentially co-regulating common biological processes. To elucidate roles of miRNA clusters and miRNAs with high sequence homology, it is of key importance to selectively repress only the miRNAs of interest. Targeting miRNAs on genomic level with CRISPR/dCas9-based methods is an attractive alternative to blocking mature miRNAs. Yet, so far no clear guidelines on the design of CRISPR inhibition (CRISPRi) experiments, specifically for miRNA repression, have been proposed. To address this need, here we propose a strategy for effective inhibition of miRNAs and miRNA clusters using CRISPRi. We provide clues on how to approach the challenges in using CRISPR/dCas in miRNA studies, which include prediction of miRNA transcription start sites (TSSs) and the design of single guide RNAs (sgRNAs). The strategy implements three TSS prediction online tools, dedicated specifically for miRNAs: miRStart, FANTOM 5 miRNA atlas, DIANA-miRGen, and CRISPOR tool for sgRNAs design; it includes testing and selection of optimal sgRNAs. We demonstrate that compared to siRNA/shRNA-based miRNA silencing, CRISPRi improves the repression specificity for miRNAs with highly similar sequence and contribute to higher uniformity of the effects of silencing the whole miRNA clusters. This strategy may be adapted for CRISPR-mediated activation (CRISPRa) of miRNA expression.
MeSH term(s)	Clustered Regularly Interspaced Short Palindromic Repeats/genetics ; MicroRNAs/genetics ; MicroRNAs/metabolism ; RNA, Guide, CRISPR-Cas Systems/genetics ; RNA, Guide, CRISPR-Cas Systems/metabolism ; Sequence Homology ; Transcription Initiation Site
Chemical Substances	MicroRNAs ; RNA, Guide, CRISPR-Cas Systems
Language	English
Publishing date	2022-04-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-10336-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Privacy and confidentiality measures in genetic testing and counselling: arguing on genetic exceptionalism again?

Witt, Magdalena M / Witt, Michał P

Journal of applied genetics

2016 Volume 57, Issue 4, Page(s) 483–485

Abstract: Medical confidentiality in clinical genetics poses an important question about its scope, which would be in line with professional ethics and simple honesty. It is already known that the maintenance of absolute anonymity, bearing in mind the current ... ...

Abstract	Medical confidentiality in clinical genetics poses an important question about its scope, which would be in line with professional ethics and simple honesty. It is already known that the maintenance of absolute anonymity, bearing in mind the current progress of genetic techniques, is virtually impossible. On the other hand, our insight into the information contained in the human genome is increasing. This mini-review presents the authors' standpoint regarding this complex and difficult issue.
MeSH term(s)	Confidentiality ; Genetic Counseling/ethics ; Genetic Testing/ethics ; Humans ; Privacy
Language	English
Publishing date	2016-11
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-016-0339-4
Database	MEDical Literature Analysis and Retrieval System OnLINE

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