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  1. Artikel ; 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  Band 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.
    Schlagwörter Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2018-01-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; 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.
    Schlagwörter Cell Biology ; Immunology ; Metabolism ; Stem Cells ; Cell Differentiation ; Science (General) ; Q1-390
    Sprache Englisch
    Erscheinungsdatum 2023-03-01T00:00:00Z
    Verlag Elsevier
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Buch ; Dissertation / Habilitation: Doppelblinde randomisierte prospektive Pilotstudie zur Überprüfung der Wirkung des ACE-Hemmers Ramipril auf die Infarktgröße bei akutem Myokardinfarkt

    Klein-Galczinsky, Christoph

    1998  

    Verfasserangabe vorgelegt von Christoph Klein-Galczinsky
    Sprache Deutsch
    Umfang 47 S. : graph. Darst.
    Dokumenttyp Buch ; Dissertation / Habilitation
    Dissertation / Habilitation Frankfurt (Main), Univ., Diss., 1998
    HBZ-ID HT010083799
    Datenquelle Katalog ZB MED Medizin, Gesundheit

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    Verfügbar in ZB MED Köln/Königswinter

    SignaturLeihstatusStandort
    99 D 559 bestellbar zur Ausleihe Magazin

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  4. Artikel ; 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  Band 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.
    Schlagwörter Cohen syndrome ; Neutropenia ; Frameshift mutation ; Vesicular transport proteins ; VPS13B protein ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2020-06-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; 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  Band 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 ...
    Schlagwörter Biology (General) ; QH301-705.5
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2020-02-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel: 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  Band 17, Heft 48

    Titelübersetzung factors and treatment practices associated with different sedation rate estimates in palliative and hospice care services)
    Schlagwörter palliative care ; sedatives ; standards ; drugs ; quality of health care ; survey
    Thema/Rubrik (Code) AN
    Sprache Englisch
    Dokumenttyp Artikel
    ZDB-ID 2091556-1
    ISSN 1472-684X
    ISSN 1472-684X
    Datenquelle Ethik in der Medizin (ETHMED)

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  7. Artikel ; 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  Band 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.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 150
    Sprache Englisch
    Erscheinungsdatum 2020-09-01T00:00:00Z
    Verlag Nature Publishing Group
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; 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  Band 314, Seite(n) 111312

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

    Abstract This study examined whether Parkinson's disease (PD
    Mesh-Begriff(e) Brain/diagnostic imaging ; Brain Mapping ; Humans ; Parkinson Disease/diagnostic imaging ; Prefrontal Cortex/diagnostic imaging ; Schizophrenia/diagnostic imaging
    Sprache Englisch
    Erscheinungsdatum 2021-06-01
    Erscheinungsland Netherlands
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: 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  Band VOLUME / ISSUE: 17, Heft 48, Seite(n) PAGINATION:

    Abstract: AB: ...

    Titelübersetzung TITLE TRANSLATION: (Palliative sedation in Germany: factors and treatment practices associated with different sedation rate estimates in palliative and hospice care services)
    Körperschaft CS:
    Serientitel SE:
    Abstract AB:
    Schlagwörter it: palliative care ; sedatives ; standards ; drugs ; quality of health care ; survey ; keyword identifiers:
    Thema/Rubrik (Code) SC: AN
    Sprache Latein ; Englisch
    Verlag PU:
    Dokumenttyp Artikel
    Anmerkung NOTE:
    ISSN ISSN: 1472-684X
    Datenquelle Ethik in der Medizin (ETHMED)

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  10. Artikel ; Online: HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation

    Yanxin Fan / Marta Murgia / Monika I. Linder / Yoko Mizoguchi / Cong Wang / Marcin Łyszkiewicz / Natalia Ziȩtara / Yanshan Liu / Stephanie Frenz / Gabriela Sciuccati / Armando Partida-Gaytan / Zahra Alizadeh / Nima Rezaei / Peter Rehling / Sven Dennerlein / Matthias Mann / Christoph Klein

    The Journal of Clinical Investigation, Vol 132, Iss

    2022  Band 9

    Abstract: The relevance of molecular mechanisms governing mitochondrial proteostasis to the differentiation and function of hematopoietic and immune cells is largely elusive. Through dissection of the network of proteins related to HCLS1-associated protein X-1, we ...

    Abstract The relevance of molecular mechanisms governing mitochondrial proteostasis to the differentiation and function of hematopoietic and immune cells is largely elusive. Through dissection of the network of proteins related to HCLS1-associated protein X-1, we defined a potentially novel functional CLPB/HAX1/(PRKD2)/HSP27 axis with critical importance for the differentiation of neutrophil granulocytes and, thus, elucidated molecular and metabolic mechanisms underlying congenital neutropenia in patients with HAX1 deficiency as well as bi- and monoallelic mutations in CLPB. As shown by stable isotope labeling by amino acids in cell culture (SILAC) proteomics, CLPB and HAX1 control the balance of mitochondrial protein synthesis and persistence crucial for proper mitochondrial function. Impaired mitochondrial protein dynamics are associated with decreased abundance of the serine-threonine kinase PRKD2 and HSP27 phosphorylated on serines 78 and 82. Cellular defects in HAX1–/– cells can be functionally reconstituted by HSP27. Thus, mitochondrial proteostasis emerges as a critical molecular and metabolic mechanism governing the differentiation and function of neutrophil granulocytes.
    Schlagwörter Cell biology ; Immunology ; Medicine ; R
    Thema/Rubrik (Code) 570
    Sprache Englisch
    Erscheinungsdatum 2022-05-01T00:00:00Z
    Verlag American Society for Clinical Investigation
    Dokumenttyp Artikel ; Online
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