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  1. Article ; Online: Outcomes of haploidentical bone marrow transplantation in infant acute leukemia: a single center experience.

    Filioglou, Dimitrios / Truscott, Laurel / Reddivalla, Naresh / Katsanis, Emmanuel

    Bone marrow transplantation

    2024  

    Language English
    Publishing date 2024-04-09
    Publishing country England
    Document type Letter
    ZDB-ID 632854-4
    ISSN 1476-5365 ; 0268-3369 ; 0951-3078
    ISSN (online) 1476-5365
    ISSN 0268-3369 ; 0951-3078
    DOI 10.1038/s41409-024-02281-8
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2168: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  2. Article ; Online: Point: Treating Human Genetic Disease One Base Pair at a Time: The Benefits of Gene Editing.

    Katsanis, Nicholas

    Clinical chemistry

    2018  Volume 64, Issue 3, Page(s) 486–488

    MeSH term(s) CRISPR-Cas Systems ; Gene Editing/methods ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/therapy ; Genetic Therapy/methods ; Human Genetics/methods ; Humans
    Language English
    Publishing date 2018-04-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1373/clinchem.2017.278309
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  3. Article ; Online: 2017 Curt Stern Award: The Complexity of Simple Genetics.

    Katsanis, Nicholas

    American journal of human genetics

    2018  Volume 102, Issue 3, Page(s) 355–358

    MeSH term(s) Awards and Prizes ; Bardet-Biedl Syndrome/genetics ; Genetics, Medical ; History, 20th Century ; History, 21st Century ; Humans
    Language English
    Publishing date 2018-04-06
    Publishing country United States
    Document type Address ; Autobiography ; Historical Article ; Journal Article ; Portrait
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.02.004
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 107: Show issues Location:
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  4. Article ; Online: The continuum of causality in human genetic disorders.

    Katsanis, Nicholas

    Genome biology

    2016  Volume 17, Issue 1, Page(s) 233

    Abstract: Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on ... ...

    Abstract Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on their population frequencies. The availability of exome and genome data, as well as gene and allele discovery for various conditions, is beginning to challenge classic definitions of genetic causality. Here, I discuss recent advances in our understanding of the overlap between rare and complex diseases and the context-dependent effect of both rare and common alleles that underscores the need for revising the traditional categorizations of genetic traits.
    MeSH term(s) Alleles ; Genetic Diseases, Inborn ; Genetic Predisposition to Disease ; Genetics, Medical/trends ; Genetics, Population ; Genome, Human ; Genome-Wide Association Study ; Humans ; Pedigree ; Rare Diseases/genetics
    Language English
    Publishing date 2016-11-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2040529-7
    ISSN 1474-760X ; 1465-6914 ; 1465-6906
    ISSN (online) 1474-760X ; 1465-6914
    ISSN 1465-6906
    DOI 10.1186/s13059-016-1107-9
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  5. Article: Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene.

    Katsanis, N / Yaspo, M L / Fisher, E M

    Mammalian genome : official journal of the International Mammalian Genome Society

    1997  Volume 8, Issue 7, Page(s) 526–529

    MeSH term(s) Alternative Splicing ; Amino Acid Sequence ; Animals ; Blotting, Northern ; Blotting, Southern ; Chromosome Mapping ; Chromosomes, Human, Pair 21 ; Cloning, Molecular/methods ; Humans ; Molecular Sequence Data ; Protein-Arginine N-Methyltransferases/genetics ; Rats ; Saccharomyces cerevisiae/genetics ; Sequence Homology, Amino Acid ; Sequence Tagged Sites ; Tissue Distribution ; Transcription, Genetic
    Chemical Substances Protein-Arginine N-Methyltransferases (EC 2.1.1.319)
    Language English
    Publishing date 1997-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1058547-3
    ISSN 1432-1777 ; 0938-8990
    ISSN (online) 1432-1777
    ISSN 0938-8990
    DOI 10.1007/s003359900491
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3489: Show issues Location:
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  6. Article ; Online: Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.

    Yusuff, Tanzeen / Kellaris, Georgios / Girirajan, Santhosh / Katsanis, Nicholas

    Current opinion in genetics & development

    2021  Volume 68, Page(s) 79–87

    Abstract: Genetic architecture predisposes regions of the human genome to copy-number variants, which confer substantial disease risk, most prominently towards neurodevelopmental disorders. These variants typically contain multiple genes and are often associated ... ...

    Abstract Genetic architecture predisposes regions of the human genome to copy-number variants, which confer substantial disease risk, most prominently towards neurodevelopmental disorders. These variants typically contain multiple genes and are often associated with extensive pleiotropy and variable phenotypic expressivity. Despite the expansion of the fidelity of CNV detection, and the study of such lesions at the population level, understanding causal mechanisms for CNV phenotypes will require biological testing of constituent genes and their interactions. In this regard, model systems amenable to high-throughput phenotypic analysis of dosage-sensitive genes (and combinations thereof) are beginning to offer improved granularity of CNV-driven pathology. Here, we review the utility of Drosophila and zebrafish models for pathogenic CNV regions, highlight the advances made in discovery of single gene drivers and genetic interactions that determine specific CNV phenotypes, and argue for their validity in dissecting conserved developmental mechanisms associated with CNVs.
    MeSH term(s) Animals ; DNA Copy Number Variations ; Disease Models, Animal ; Drosophila/genetics ; Gene Dosage ; Genetic Association Studies ; Genetic Predisposition to Disease ; High-Throughput Screening Assays ; Humans ; Neurodevelopmental Disorders/genetics ; Zebrafish/genetics
    Language English
    Publishing date 2021-03-31
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2021.02.013
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    Zs.A 3240: Show issues Location:
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  7. Article: The continuum of causality in human genetic disorders

    Katsanis, Nicholas

    Genome biology. 2016 Dec., v. 17, no. 1

    2016  

    Abstract: Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on ... ...

    Abstract Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on their population frequencies. The availability of exome and genome data, as well as gene and allele discovery for various conditions, is beginning to challenge classic definitions of genetic causality. Here, I discuss recent advances in our understanding of the overlap between rare and complex diseases and the context-dependent effect of both rare and common alleles that underscores the need for revising the traditional categorizations of genetic traits.
    Keywords alleles ; genetic disorders ; genetic traits ; humans ; pedigree
    Language English
    Dates of publication 2016-12
    Size p. 233.
    Publishing place BioMed Central
    Document type Article
    ZDB-ID 2040529-7
    ISSN 1474-760X ; 1465-6906
    ISSN (online) 1474-760X
    ISSN 1465-6906
    DOI 10.1186/s13059-016-1107-9
    Database NAL-Catalogue (AGRICOLA)

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  8. Article ; Online: Molecular genetic testing and the future of clinical genomics.

    Katsanis, Sara Huston / Katsanis, Nicholas

    Nature reviews. Genetics

    2013  Volume 14, Issue 6, Page(s) 415–426

    Abstract: Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how ... ...

    Abstract Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.
    MeSH term(s) Animals ; Evaluation Studies as Topic ; Genetic Testing/economics ; Genetic Testing/ethics ; Genetic Testing/legislation & jurisprudence ; Genetic Testing/standards ; Genome-Wide Association Study ; Genomics ; Humans ; Karyotyping ; Molecular Diagnostic Techniques/economics ; Molecular Diagnostic Techniques/ethics ; Molecular Diagnostic Techniques/standards ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; United States
    Language English
    Publishing date 2013-05-16
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2035157-4
    ISSN 1471-0064 ; 1471-0056
    ISSN (online) 1471-0064
    ISSN 1471-0056
    DOI 10.1038/nrg3493
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    Zs.A 5474: Show issues Location:
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  9. Article ; Online: Murine precursors to type 1 conventional dendritic cells induce tumor cytotoxicity and exhibit activated PD-1/PD-L1 pathway.

    Molina, Megan S / Hoffman, Emely A / Stokes, Jessica / Kummet, Nicole / Simpson, Richard J / Katsanis, Emmanuel

    PloS one

    2022  Volume 17, Issue 8, Page(s) e0273075

    Abstract: The immediate precursor to murine type 1 conventional DCs (cDC1s) has recently been established and named "pre-cDC1s". Mature CD8α+ cDC1s are recognized for suppressing graft-versus-host disease (GvHD) while promoting graft-versus-leukemia (GvL), however ...

    Abstract The immediate precursor to murine type 1 conventional DCs (cDC1s) has recently been established and named "pre-cDC1s". Mature CD8α+ cDC1s are recognized for suppressing graft-versus-host disease (GvHD) while promoting graft-versus-leukemia (GvL), however pre-cDC1s have not previously been investigated in the context of alloreactivity or anti-tumor responses. Characterization of pre-cDC1s, compared to CD8α+ cDC1s, found that a lower percentage of pre-cDC1s express PD-L1, yet express greater PD-L1 by MFI and a greater percent PIR-B, a GvHD-suppressing molecule. Functional assays were performed ex vivo following in vivo depletion of CD8α+ DCs to examine whether pre-cDC1s play a redundant role in alloreactivity. Proliferation assays revealed less allogeneic T-cell proliferation in the absence of CD8α+ cDC1s, with slightly greater CD8+ T-cell proliferation. Further, in the absence of CD8α+ cDC1s, stimulated CD8+ T-cells exhibited significantly less PD-1 expression compared to CD4+ T-cells, and alloreactive T-cell death was significantly lower, driven by reduced CD4+ T-cell death. Tumor-killing assays revealed that T-cells primed with CD8α-depleted DCs ex vivo induce greater killing of A20 B-cell leukemia cells, particularly when antigen (Ag) is limited. Bulk RNA sequencing revealed distinct transcriptional programs of these DCs, with pre-cDC1s exhibiting activated PD-1/PD-L1 signaling compared to CD8α+ cDC1s. These results indicate distinct T-cell-priming capabilities of murine pre-cDC1s compared to CD8α+ cDC1s ex vivo, with potentially clinically relevant implications in suppressing GvHD while promoting GvL responses, highlighting the need for greater investigation of murine pre-cDC1s.
    MeSH term(s) Animals ; B7-H1 Antigen/metabolism ; CD8-Positive T-Lymphocytes ; Dendritic Cells ; Graft vs Host Disease ; Mice ; Mice, Inbred C57BL ; Programmed Cell Death 1 Receptor/genetics ; Programmed Cell Death 1 Receptor/metabolism
    Chemical Substances B7-H1 Antigen ; Programmed Cell Death 1 Receptor
    Language English
    Publishing date 2022-08-18
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0273075
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  10. Article ; Online: IFT and total mutational load

    Katsanis N

    Cilia, Vol 1, Iss Suppl 1, p O

    2012  Volume 24

    Keywords Cytology ; QH573-671 ; Biology (General) ; QH301-705.5 ; Science ; Q ; DOAJ:Cytology ; DOAJ:Biology ; DOAJ:Biology and Life Sciences
    Language English
    Publishing date 2012-11-01T00:00:00Z
    Publisher BioMed Central
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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