LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 298

Search options

  1. Book: Nucleotide and protein expansions and human disease

    Gécz, Jozef

    (Gytogenetic and genome research ; 100)

    2003  

    Author's details ed. Jozef Gécz
    Series title Gytogenetic and genome research ; 100
    Cytogenetic and genome research
    Collection Cytogenetic and genome research
    Keywords Erbkrankheit ; Genmutation
    Subject Gen ; Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten
    Language English
    Size 298 S. : Ill., graph. Darst.
    Publisher Karger
    Publishing place Basel u.a.
    Publishing country Switzerland
    Document type Book
    HBZ-ID HT013927285
    ISBN 3-8055-7621-8 ; 978-3-8055-7621-5
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 512 -100- not available for loan Zeitschriften-Lesesaal

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.

    van Eyk, Clare L / Fahey, Michael C / Gecz, Jozef

    Nature reviews. Neurology

    2023  Volume 19, Issue 9, Page(s) 542–555

    Abstract: Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-degenerative disorders of motor function. Around one-third of cases have now been shown to have an underlying genetic aetiology, with the genetic landscape overlapping ... ...

    Abstract Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-degenerative disorders of motor function. Around one-third of cases have now been shown to have an underlying genetic aetiology, with the genetic landscape overlapping with those of neurodevelopmental disorders including intellectual disability, epilepsy, speech and language disorders and autism. Here we review the current state of genomic testing in cerebral palsy, highlighting the benefits for personalized medicine and the imperative to consider aetiology during clinical diagnosis. With earlier clinical diagnosis now possible, we emphasize the opportunity for comprehensive and early genomic testing as a crucial component of the routine diagnostic work-up in people with cerebral palsy.
    MeSH term(s) Humans ; Cerebral Palsy/diagnosis ; Cerebral Palsy/genetics ; Neurodevelopmental Disorders/etiology ; Neurodevelopmental Disorders/genetics ; Intellectual Disability ; Causality ; Paralysis/complications
    Language English
    Publishing date 2023-08-03
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2491514-2
    ISSN 1759-4766 ; 1759-4758
    ISSN (online) 1759-4766
    ISSN 1759-4758
    DOI 10.1038/s41582-023-00847-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6257: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 88: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Cerebral palsy with autism and ADHD: time to pay attention.

    Gecz, Jozef / Berry, Jesia G

    Developmental medicine and child neurology

    2020  Volume 63, Issue 3, Page(s) 247–248

    MeSH term(s) Attention Deficit Disorder with Hyperactivity/complications ; Attention Deficit Disorder with Hyperactivity/epidemiology ; Autism Spectrum Disorder/complications ; Autism Spectrum Disorder/epidemiology ; Autistic Disorder/complications ; Cerebral Palsy/complications ; Cerebral Palsy/epidemiology ; Humans
    Language English
    Publishing date 2020-12-12
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/dmcn.14773
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 5: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics.

    Gecz, Jozef / Thomas, Paul Q

    Current opinion in genetics & development

    2020  Volume 65, Page(s) 169–175

    Abstract: PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritance. The causative gene, PCDH19, is on the X-chromosome and encodes a cell-cell adhesion protein with restricted expression ... ...

    Abstract PCDH19 Clustering Epilepsy (CE) is an intriguing early-onset seizure, autism and neurocognitive disorder with unique inheritance. The causative gene, PCDH19, is on the X-chromosome and encodes a cell-cell adhesion protein with restricted expression during brain development. Unlike other X-linked disorders, PCDH19-CE manifests in heterozygous females. Strikingly, hemizygous males are not affected. However, males with postzygotic somatic mutation in PCDH19 are affected and clinically similar to the affected females. PCDH19-CE is a disorder of cellular mosaicism. The coexistence of two different, but otherwise 'normal' cells in a PCDH19-CE individual, that is the wild type and the variant PCDH19 cells, has been proposed as the driving force of the disorder. This 'cellular interference' hypothesis could and has now been tested using sophisticated mouse models.
    MeSH term(s) Animals ; Cadherins/genetics ; Epilepsy/genetics ; Epilepsy/pathology ; Genes, X-Linked ; Humans ; Mosaicism
    Chemical Substances Cadherins ; PCDH19 protein, human
    Language English
    Publishing date 2020-07-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2020.06.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3240: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.

    de Nys, Rebekah / Kumar, Raman / Gecz, Jozef

    International journal of molecular sciences

    2021  Volume 22, Issue 18

    Abstract: Steroids yield great influence on neurological development through nuclear hormone receptor (NHR)-mediated gene regulation. We recently reported that cell adhesion molecule protocadherin 19 (encoded by ... ...

    Abstract Steroids yield great influence on neurological development through nuclear hormone receptor (NHR)-mediated gene regulation. We recently reported that cell adhesion molecule protocadherin 19 (encoded by the
    MeSH term(s) Animals ; Biosynthetic Pathways ; Brain/metabolism ; Cadherins/genetics ; Cadherins/metabolism ; Disease Models, Animal ; Epilepsy/genetics ; Epilepsy/metabolism ; Gene Expression Regulation ; Humans ; Multigene Family ; Neurosteroids/metabolism ; Protocadherins
    Chemical Substances Cadherins ; Neurosteroids ; PCDH19 protein, human ; Protocadherins
    Language English
    Publishing date 2021-09-09
    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/ijms22189769
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties.

    Mincheva-Tasheva, Stefka / Pfitzner, Chandran / Kumar, Raman / Kurtsdotter, Idha / Scherer, Michaela / Ritchie, Tarin / Muhr, Jonas / Gecz, Jozef / Thomas, Paul Q

    Open biology

    2024  Volume 14, Issue 4, Page(s) 230383

    Abstract: Non-clustered protocadherins (ncPcdhs) are adhesive molecules with spatio-temporally regulated overlapping expression in the developing nervous system. Although their unique role in neurogenesis has been widely studied, their combinatorial role in brain ... ...

    Abstract Non-clustered protocadherins (ncPcdhs) are adhesive molecules with spatio-temporally regulated overlapping expression in the developing nervous system. Although their unique role in neurogenesis has been widely studied, their combinatorial role in brain physiology and pathology is poorly understood. Using probabilistic cell typing by
    MeSH term(s) Animals ; Mice ; Brain/cytology ; Brain/growth & development ; Cell Adhesion ; Epilepsy/metabolism ; Neurons/metabolism ; Protocadherins
    Chemical Substances Protocadherins
    Language English
    Publishing date 2024-04-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2630944-0
    ISSN 2046-2441 ; 2046-2441
    ISSN (online) 2046-2441
    ISSN 2046-2441
    DOI 10.1098/rsob.230383
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article ; Online: Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines.

    Kumar, Raman / Kamath, Karthik S / Carroll, Luke / Hoffmann, Peter / Gecz, Jozef / Jolly, Lachlan A

    STAR protocols

    2022  Volume 3, Issue 4, Page(s) 101693

    Abstract: Immunoprecipitation (IP) of endogenously expressed proteins is one of the most biologically relevant techniques to identify protein-protein interactions. We describe an adaptable IP protocol reliant on a specific antibody to the target protein. We detail ...

    Abstract Immunoprecipitation (IP) of endogenously expressed proteins is one of the most biologically relevant techniques to identify protein-protein interactions. We describe an adaptable IP protocol reliant on a specific antibody to the target protein. We detail a quantitative proteomics workflow for the unbiased identification of co-immunoprecipitating proteins, known collectively as an interactome. This includes protocols for the tryptic digestion, Tandem Mass Tag labeling and fractionation of peptides, and their identification and quantification using liquid chromatography-mass spectrometry including computational and statistical analysis. For complete details on the use and execution of this protocol, please refer to Johnson et al. (2020).
    MeSH term(s) Proteomics/methods ; Proteins ; Mass Spectrometry/methods ; Cell Line ; Immunoprecipitation
    Chemical Substances Proteins
    Language English
    Publishing date 2022-09-18
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2666-1667
    ISSN (online) 2666-1667
    DOI 10.1016/j.xpro.2022.101693
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  8. Article ; Online: The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders.

    Jolly, Lachlan A / Kumar, Raman / Penzes, Peter / Piper, Michael / Gecz, Jozef

    Biological psychiatry

    2022  Volume 92, Issue 8, Page(s) 614–625

    Abstract: Protein ubiquitination is a widespread, multifunctional, posttranslational protein modification, best known for its ability to direct protein degradation via the ubiquitin proteasome system (UPS). Ubiquitination is also reversible, and the human genome ... ...

    Abstract Protein ubiquitination is a widespread, multifunctional, posttranslational protein modification, best known for its ability to direct protein degradation via the ubiquitin proteasome system (UPS). Ubiquitination is also reversible, and the human genome encodes over 90 deubiquitinating enzymes (DUBs), many of which appear to target specific subsets of ubiquitinated proteins. This review focuses on the roles of DUBs in neurodevelopmental disorders (NDDs). We present the current genetic evidence connecting 12 DUBs to a range of NDDs and the functional studies implicating at least 19 additional DUBs as candidate NDD genes. We highlight how the study of DUBs in NDDs offers critical insights into the role of protein degradation during brain development. Because one of the major known functions of a DUB is to antagonize the UPS, loss of function of DUB genes has been shown to culminate in loss of abundance of its protein substrates. The identification and study of NDD DUB substrates in the developing brain is revealing that they regulate networks of proteins that themselves are encoded by NDD genes. We describe the new technologies that are enabling the full resolution of DUB protein networks in the developing brain, with the view that this knowledge can direct the development of new therapeutic paradigms. The fact that the abundance of many NDD proteins is regulated by the UPS presents an exciting opportunity to combat NDDs caused by haploinsufficiency, because the loss of abundance of NDD proteins can be potentially rectified by antagonizing their UPS-based degradation.
    MeSH term(s) Deubiquitinating Enzymes/genetics ; Humans ; Neurodevelopmental Disorders/genetics ; Proteasome Endopeptidase Complex/metabolism ; Ubiquitin/metabolism ; Ubiquitinated Proteins
    Chemical Substances Ubiquitin ; Ubiquitinated Proteins ; Deubiquitinating Enzymes (EC 3.4.19.12) ; Proteasome Endopeptidase Complex (EC 3.4.25.1)
    Language English
    Publishing date 2022-04-10
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 209434-4
    ISSN 1873-2402 ; 0006-3223
    ISSN (online) 1873-2402
    ISSN 0006-3223
    DOI 10.1016/j.biopsych.2022.03.022
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 720: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: Glutamate receptors and learning and memory.

    Gécz, Jozef

    Nature genetics

    2010  Volume 42, Issue 11, Page(s) 925–926

    MeSH term(s) Epilepsy/genetics ; Humans ; Intellectual Disability/genetics ; Learning/physiology ; Memory/physiology ; Phenotype ; Receptors, Glutamate/genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Synapses/physiology ; Translocation, Genetic
    Chemical Substances NR2B NMDA receptor ; Receptors, Glutamate ; Receptors, N-Methyl-D-Aspartate ; N-methyl D-aspartate receptor subtype 2A (VH92ICR8HX)
    Language English
    Publishing date 2010-10-27
    Publishing country United States
    Document type News ; Comment
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng1110-925
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3613: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 46: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

    Corbett, Mark A / Depienne, Christel / Veneziano, Liana / Klein, Karl Martin / Brancati, Francesco / Guerrini, Renzo / Zara, Federico / Tsuji, Shoji / Gecz, Jozef

    Epilepsia

    2023  Volume 64 Suppl 1, Page(s) S14–S21

    Abstract: Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and ... ...

    Abstract Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and culminating in the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes to date (SAMD12, STARD7, MARCHF6, YEATS2, TNRC6A, and RAPGEF2). FAME occurs worldwide; however, repeat expansions in particular genes have regional geographical distributions. FAME repeat expansions are dynamic in nature, changing in length and structure within germline and somatic tissues. This variation poses challenges for molecular diagnosis such that molecular methods used to identify FAME repeat expansions typically require a trade-off between cost and efficiency. A rigorous evaluation of the sensitivity and specificity of each molecular approach remains to be performed. The origin of FAME repeat expansions and the genetic and environmental factors that modulate repeat variability are not well defined. Longer repeats and particular arrangements of the TTTTA and TTTCA motifs within an expansion are correlated with earlier onset and increased severity of disease. Other factors such as maternal or paternal inheritance, parental age, and repeat length alone have been suggested to influence repeat variation; however, further research is required to confirm this. The history of FAME genetics to the present is a chronicle of perseverance and predominantly collaborative efforts that yielded a successful outcome. The discovery of FAME repeats will spark progress toward a deeper understanding of the molecular pathogenesis of FAME, discovery of new loci, and development of cell and animal models.
    MeSH term(s) Humans ; Epilepsies, Myoclonic/genetics ; Epilepsies, Myoclonic/pathology ; Pedigree ; Research
    Language English
    Publishing date 2023-04-17
    Publishing country United States
    Document type Review ; Journal Article
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17610
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 517: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 475: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top