LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 39

Search options

  1. Article ; Online: Patients with rare diseases

    Christoph Klein / William A Gahl

    EMBO Molecular Medicine, Vol 10, Iss 1, Pp 1-

    from therapeutic orphans to pioneers of personalized treatments

    2018  Volume 3

    Abstract: Common diseases, such as cancer, diabetes mellitus, or Alzheimer's disease, affect a large segment of the population, which justifies the enormous financial allocations for translational and clinical research. In contrast, the ~5,000 known rare disorders ...

    Abstract Common diseases, such as cancer, diabetes mellitus, or Alzheimer's disease, affect a large segment of the population, which justifies the enormous financial allocations for translational and clinical research. In contrast, the ~5,000 known rare disorders affect only very few patients each, even though the cumulative disease burden is substantial. This influences not only the general appreciation of research to address rare diseases, but also the allocation of research funds. Importantly, however, studying rare diseases has contributed enormously to our understanding of human biochemistry, cell and developmental biology, and physiology. For example, Linus Pauling and Vernon Ingram's discovery of a structural difference and amino acid variant in the beta‐globin protein, which causes monogenic hemoglobinopathies such as sickle cell disease or thalassemia, issued in the era of molecular medicine (Pauling et al, ). Subsequently, numerous genetic defects in critical genes controlling differentiation and/or function of cells and organs have been identified and opened new possibilities for molecular diagnosis.
    Keywords Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Subject code 610
    Language English
    Publishing date 2018-01-01T00:00:00Z
    Publisher Wiley
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

  2. Article ; Online: Analyzing mitochondrial respiration of human induced pluripotent stem cell-derived myeloid progenitors using Seahorse technology

    Yanxin Fan / Yoko Mizoguchi / Megumi Tatematsu / Monika I. Linder / Stephanie Frenz / Jongsu Choi / Christoph Klein

    STAR Protocols, Vol 4, Iss 1, Pp 102073- (2023)

    2023  

    Abstract: Summary: Mitochondrial metabolism is critical in hematopoietic stem cell maintenance and differentiation. Here, we present a step-by-step protocol to efficiently differentiate human induced pluripotent stem cells into myeloid progenitors by a robust ... ...

    Abstract Summary: Mitochondrial metabolism is critical in hematopoietic stem cell maintenance and differentiation. Here, we present a step-by-step protocol to efficiently differentiate human induced pluripotent stem cells into myeloid progenitors by a robust feeder- and serum-free system. Furthermore, we provide a protocol to subsequently assess mitochondrial function in iPSC-derived myeloid progenitors. We comprehensively describe a protocol to analyze and to quantify key parameters of mitochondrial respiration of iPSC-derived myeloid progenitors by the Seahorse XFe96 Analyzer. Additionally, our protocol includes extensive troubleshooting suggestions.For complete details on the use and execution of this protocol, please refer to Fan et al. (2022).1 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.
    Keywords Cell Biology ; Immunology ; Metabolism ; Stem Cells ; Cell Differentiation ; Science (General) ; Q1-390
    Language English
    Publishing date 2023-03-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

  3. Book ; Thesis: Doppelblinde randomisierte prospektive Pilotstudie zur Überprüfung der Wirkung des ACE-Hemmers Ramipril auf die Infarktgröße bei akutem Myokardinfarkt

    Klein-Galczinsky, Christoph

    1998  

    Author's details vorgelegt von Christoph Klein-Galczinsky
    Language German
    Size 47 S. : graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Frankfurt (Main), Univ., Diss., 1998
    HBZ-ID HT010083799
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    99 D 559 order for loan Magazin

    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: A novel VPS13B mutation in Cohen syndrome

    Sara Momtazmanesh / Elham Rayzan / Sepideh Shahkarami / Meino Rohlfs / Christoph Klein / Nima Rezaei

    BMC Medical Genetics, Vol 21, Iss 1, Pp 1-

    a case report and review of literature

    2020  Volume 6

    Abstract: Abstract Background Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb ... ...

    Abstract Abstract Background Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, neutropenia and a friendly character. It is associated with mutations of the vacuolar protein sorting 13 homolog B (VPS13B) gene, which is involved in the development of the ocular, hematological and central nervous systems. This gene encodes a transmembrane protein playing a crucial role in preserving the integrity of the Golgi complex. To date, more than 150 mutations of VPS13B have been reported in over 200 Cohen syndrome patients. Missense or nonsense mutations are the most common mutations. Case presentation A 4-year-old girl, born to consanguineous parents, was referred to the pediatric clinical immunology outpatient clinic for investigation of recurrent neutropenia with a history of recurrent infections in the past year. On physical examination, she had the characteristic facial features of Cohen syndrome, developmental delay and speech disorder. She had a cheerful disposition, and her mother gave a history of feeding difficulties in her first months of life. She did not present any ophthalmologic or cardiac abnormalities. Her lab results revealed moderate neutropenia. Serum IgG, IgM, IgA and IgE levels were normal. She fulfilled the clinical diagnostic criteria for Cohen syndrome. WES revealed a novel homozygous frameshift variant in VPS13B (LRG_351t1: c.7095del; p.Ser2366AlafsTer49). Currently, she is not experiencing any severe problem, and she undergoes irregular medical treatment once her neutrophil count decreases under the normal limit. Her verbal and motor abilities have improved as a result of speech and occupational therapies. Conclusion We reported a novel homozygous frameshift variant in VPS13B (LRG_351t1: c.7095del; p.Ser2366AlafsTer49) in a 4-year-old girl with Cohen syndrome. Cohen syndrome should be considered in differential diagnosis of any child with intellectual disability and neutropenia.
    Keywords Cohen syndrome ; Neutropenia ; Frameshift mutation ; Vesicular transport proteins ; VPS13B protein ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Subject code 610
    Language English
    Publishing date 2020-06-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

  5. Article ; Online: SmartPhase

    Paul Hager / Hans-Werner Mewes / Meino Rohlfs / Christoph Klein / Tim Jeske

    PLoS Computational Biology, Vol 16, Iss 2, p e

    Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.

    2020  Volume 1007613

    Abstract: There is an increasing need to use genome and transcriptome sequencing to genetically diagnose patients suffering from suspected monogenic rare diseases. The proper detection of compound heterozygous variant combinations as disease-causing candidates is ... ...

    Abstract There is an increasing need to use genome and transcriptome sequencing to genetically diagnose patients suffering from suspected monogenic rare diseases. The proper detection of compound heterozygous variant combinations as disease-causing candidates is a challenge in diagnostic workflows as haplotype information is lost by currently used next-generation sequencing technologies. Consequently, computational tools are required to phase, or resolve the haplotype of, the high number of heterozygous variants in the exome or genome of each patient. Here we present SmartPhase, a phasing tool designed to efficiently reduce the set of potential compound heterozygous variant pairs in genetic diagnoses pipelines. The phasing algorithm of SmartPhase creates haplotypes using both parental genotype information and reads generated by DNA or RNA sequencing and is thus well suited to resolve the phase of rare variants. To inform the user about the reliability of a phasing prediction, it computes a confidence score which is essential to select error-free predictions. It incorporates existing haplotype information and applies logical rules to determine variants that can be excluded as causing a recessive, monogenic disease. SmartPhase can phase either all possible variant pairs in predefined genetic loci or preselected variant pairs of interest, thus keeping the focus on clinically relevant results. We compared SmartPhase to WhatsHap, one of the leading comparable phasing tools, using simulated data and a real clinical cohort of 921 patients. On both data sets, SmartPhase generated error-free predictions using our derived confidence score threshold. It outperformed WhatsHap with regard to the percentage of resolved pairs when parental genotype information is available. On the cohort data, SmartPhase enabled on average the exclusion of approximately 22% of the input variant pairs in each singleton patient and 44% in each trio patient. SmartPhase is implemented as an open-source Java tool and freely available at ...
    Keywords Biology (General) ; QH301-705.5
    Subject code 616
    Language English
    Publishing date 2020-02-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

  6. Article: factors and treatment practices associated with different sedation rate estimates in palliative and hospice care services

    Stiel, Stephanie / Nurnus, Mareike / Ostgathe, Christoph / Klein, Carsten

    BMC Palliative Care

    2018  Volume 17, Issue 48

    Title translation factors and treatment practices associated with different sedation rate estimates in palliative and hospice care services)
    Keywords palliative care ; sedatives ; standards ; drugs ; quality of health care ; survey
    Subject code AN
    Language English
    Document type Article
    ZDB-ID 2091556-1
    ISSN 1472-684X
    ISSN 1472-684X
    Database Ethics in Medicine (ETHMED)

    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: Late attentional processes potentially compensate for early perceptual multisensory integration deficits in children with autism

    Maria Elena Stefanou / Neil M. Dundon / Patricia E. G. Bestelmeyer / Chara Ioannou / Stephan Bender / Monica Biscaldi / Nikolaos Smyrnis / Christoph Klein

    Scientific Reports, Vol 10, Iss 1, Pp 1-

    evidence from evoked potentials

    2020  Volume 13

    Abstract: Abstract Sensory processing deficits and altered long-range connectivity putatively underlie Multisensory Integration (MSI) deficits in Autism Spectrum Disorder (ASD). The present study set out to investigate non-social MSI stimuli and their ... ...

    Abstract Abstract Sensory processing deficits and altered long-range connectivity putatively underlie Multisensory Integration (MSI) deficits in Autism Spectrum Disorder (ASD). The present study set out to investigate non-social MSI stimuli and their electrophysiological correlates in young neurotypical adolescents and adolescents with ASD. We report robust MSI effects at behavioural and electrophysiological levels. Both groups demonstrated normal behavioural MSI. However, at the neurophysiological level, the ASD group showed less MSI-related reduction of the visual P100 latency, greater MSI-related slowing of the auditory P200 and an overall temporally delayed and spatially constrained onset of MSI. Given the task design and patient sample, and the age of our participants, we argue that electro-cortical indices of MSI deficits in ASD: (a) can be detected in early-adolescent ASD, (b) occur at early stages of perceptual processing, (c) can possibly be compensated by later attentional processes, (d) thus leading to normal MSI at the behavioural level.
    Keywords Medicine ; R ; Science ; Q
    Subject code 150
    Language English
    Publishing date 2020-09-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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: Functional brain imaging of speeded decision processing in Parkinson's disease and comparison with Schizophrenia.

    Eleni, Pappa / Georgia, Panagiotaropoulou / Constantine, Potagas / Efstratios, Karavasilis / Georgios, Velonakis / Nikolaos, Kelekis / Christoph, Klein / Nikolaos, Smyrnis

    Psychiatry research. Neuroimaging

    2021  Volume 314, Page(s) 111312

    Abstract: This study examined whether Parkinson's disease ( ... ...

    Abstract This study examined whether Parkinson's disease (PD
    MeSH term(s) Brain/diagnostic imaging ; Brain Mapping ; Humans ; Parkinson Disease/diagnostic imaging ; Prefrontal Cortex/diagnostic imaging ; Schizophrenia/diagnostic imaging
    Language English
    Publishing date 2021-06-01
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 445361-x
    ISSN 1872-7506 ; 1872-7123 ; 0925-4927 ; 0165-1781
    ISSN (online) 1872-7506 ; 1872-7123
    ISSN 0925-4927 ; 0165-1781
    DOI 10.1016/j.pscychresns.2021.111312
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1541: 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: TI: Palliative sedation in Germany: factors and treatment practices associated with different sedation rate estimates in palliative and hospice care services

    AU: Stiel, Stephanie / Nurnus, Mareike / Ostgathe, Christoph / Klein, Carsten / EDR:

    JT: BMC Palliative Care

    (SE:)

    PY: 2018  Volume VOLUME / ISSUE: 17, Issue 48, Page(s) PAGINATION:

    Abstract: AB: ...

    Title translation TITLE TRANSLATION: (Palliative sedation in Germany: factors and treatment practices associated with different sedation rate estimates in palliative and hospice care services)
    Institution CS:
    Series title SE:
    Abstract AB:
    Keywords it: palliative care ; sedatives ; standards ; drugs ; quality of health care ; survey ; keyword identifiers:
    Subject code SC: AN
    Language Latin ; English
    Publisher PU:
    Document type Article
    Note NOTE:
    ISSN ISSN: 1472-684X
    Database Ethics in Medicine (ETHMED)

    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.

  10. Article ; Online: Genetic Correction of IL-10RB Deficiency Reconstitutes Anti-Inflammatory Regulation in iPSC-Derived Macrophages

    Dirk Hoffmann / Johanna Sens / Sebastian Brennig / Daniel Brand / Friederike Philipp / Philippe Vollmer Barbosa / Johannes Kuehle / Doris Steinemann / Daniela Lenz / Theresa Buchegger / Michael Morgan / Christine S. Falk / Christoph Klein / Nico Lachmann / Axel Schambach

    Journal of Personalized Medicine, Vol 11, Iss 221, p

    2021  Volume 221

    Abstract: Patient material from rare diseases such as very early-onset inflammatory bowel disease (VEO-IBD) is often limited. The use of patient-derived induced pluripotent stem cells (iPSCs) for disease modeling is a promising approach to investigate disease ... ...

    Abstract Patient material from rare diseases such as very early-onset inflammatory bowel disease (VEO-IBD) is often limited. The use of patient-derived induced pluripotent stem cells (iPSCs) for disease modeling is a promising approach to investigate disease pathomechanisms and therapeutic strategies. We successfully developed VEO-IBD patient-derived iPSC lines harboring a mutation in the IL-10 receptor β-chain (IL-10RB) associated with defective IL-10 signaling. To characterize the disease phenotype, healthy control and VEO-IBD iPSCs were differentiated into macrophages. IL-10 stimulation induced characteristic signal transducer and activator of transcription 3 (STAT3) and suppressor of cytokine signaling 3 ( SOCS3 ) downstream signaling and anti-inflammatory regulation of lipopolysaccharide (LPS)-mediated cytokine secretion in healthy control iPSC-derived macrophages. In contrast, IL-10 stimulation of macrophages derived from patient iPSCs did not result in STAT3 phosphorylation and subsequent SOCS3 expression, recapitulating the phenotype of cells from patients with IL-10RB deficiency. In line with this, LPS-induced cytokine secretion (e.g., IL-6 and tumor necrosis factor-α (TNF-α)) could not be downregulated by exogenous IL-10 stimulation in VEO-IBD iPSC-derived macrophages. Correction of the IL-10RB defect via lentiviral gene therapy or genome editing in the adeno-associated virus integration site 1 ( AAVS1 ) safe harbor locus led to reconstitution of the anti-inflammatory response. Corrected cells showed IL-10RB expression, IL-10-inducible phosphorylation of STAT3, and subsequent SOCS3 expression. Furthermore, LPS-mediated TNF-α secretion could be modulated by IL-10 stimulation in gene-edited VEO-IBD iPSC-derived macrophages. Our established disease models provide the opportunity to identify and validate new curative molecular therapies and to investigate phenotypes and consequences of additional individual IL-10 signaling pathway-dependent VEO-IBD mutations.
    Keywords very early-onset inflammatory bowel disease ; IL-10 signaling ; disease modeling ; gene therapy ; gene editing ; Medicine ; R
    Subject code 610 ; 616
    Language English
    Publishing date 2021-03-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

To top