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  1. Article ; Online: Pathology in practice. Severe pyogranulomatous pneumonia, enteritis, and lymphadenitis with numerous acid-fast bacteria (M xenopi).

    Gupta, Aradhana / McBride, Ann M / Holder, Kali A / Heggem, Brittany / Royal, Angela B / Wakamatsu, Nobuko

    Journal of the American Veterinary Medical Association

    2012  Volume 240, Issue 12, Page(s) 1427–1429

    MeSH term(s) Animals ; Enteritis/microbiology ; Enteritis/pathology ; Enteritis/veterinary ; Fatal Outcome ; Female ; Ferrets/microbiology ; Lymphadenitis/microbiology ; Lymphadenitis/pathology ; Lymphadenitis/veterinary ; Mycobacterium Infections, Nontuberculous/pathology ; Mycobacterium Infections, Nontuberculous/veterinary ; Mycobacterium xenopi/isolation & purification ; Pneumonia, Bacterial/microbiology ; Pneumonia, Bacterial/pathology ; Pneumonia, Bacterial/veterinary
    Language English
    Publishing date 2012-06-15
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 390811-2
    ISSN 1943-569X ; 0003-1488
    ISSN (online) 1943-569X
    ISSN 0003-1488
    DOI 10.2460/javma.240.12.1427
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 423: Show issues Location:
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  2. Article ; Online: Clinical utility gene card for: 3-M syndrome - update 2013.

    Holder-Espinasse, Muriel / Irving, Melita / Cormier-Daire, Valérie

    European journal of human genetics : EJHG

    2013  Volume 22, Issue 4

    MeSH term(s) Carrier Proteins/genetics ; Cullin Proteins/genetics ; Cytoskeletal Proteins/genetics ; Dwarfism/diagnosis ; Dwarfism/genetics ; Genetic Testing ; Genotype ; Humans ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Phenotype ; Spine/abnormalities
    Chemical Substances CCDC8 protein, human ; CUL7 protein, human ; Carrier Proteins ; Cullin Proteins ; Cytoskeletal Proteins ; OBSL1 protein, human
    Language English
    Publishing date 2013-07-31
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2013.156
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    Zs.A 3589: Show issues Location:
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  3. Article ; Online: The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

    Hanson, Dan / Murray, Philip G / Sud, Amit / Temtamy, Samia A / Aglan, Mona / Superti-Furga, Andrea / Holder, Sue E / Urquhart, Jill / Hilton, Emma / Manson, Forbes D C / Scambler, Peter / Black, Graeme C M / Clayton, Peter E

    American journal of human genetics

    2009  Volume 84, Issue 6, Page(s) 801–806

    Abstract: 3-M syndrome is an autosomal-recessive primordial growth disorder characterized by significant ... intrauterine and postnatal growth restriction. Mutations in the CUL7 gene are known to cause 3-M syndrome. In 3 ... M syndrome patients that do not carry CUL7 mutations, we performed high-density genome-wide SNP ...

    Abstract 3-M syndrome is an autosomal-recessive primordial growth disorder characterized by significant intrauterine and postnatal growth restriction. Mutations in the CUL7 gene are known to cause 3-M syndrome. In 3-M syndrome patients that do not carry CUL7 mutations, we performed high-density genome-wide SNP mapping to identify a second locus at 2q35-q36.1. Further haplotype analysis revealed a 1.29 Mb interval in which the underlying gene is located and we subsequently discovered seven distinct null mutations from 10 families within the gene OBSL1. OBSL1 is a putative cytoskeletal adaptor protein that localizes to the nuclear envelope. We were also able to demonstrate that loss of OBSL1 leads to downregulation of CUL7, implying a role for OBSL1 in the maintenance of CUL7 protein levels and suggesting that both proteins are involved within the same molecular pathway.
    MeSH term(s) Adolescent ; Cells, Cultured ; Child ; Child, Preschool ; Cullin Proteins/genetics ; Cytoskeletal Proteins/antagonists & inhibitors ; Cytoskeletal Proteins/genetics ; Cytoskeletal Proteins/metabolism ; Cytoskeleton ; Female ; Growth Disorders/genetics ; Humans ; Infant ; Kidney/cytology ; Kidney/metabolism ; Male ; Mutation/genetics ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; RNA, Small Interfering/pharmacology ; Syndrome ; Ubiquitination
    Chemical Substances CUL7 protein, human ; Cullin Proteins ; Cytoskeletal Proteins ; OBSL1 protein, human ; RNA, Small Interfering
    Language English
    Publishing date 2009-05-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2009.04.021
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    Zs.A 107: Show issues Location:
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  4. Article ; Online: Binding of Plasmodium falciparum Merozoite Surface Proteins DBLMSP and DBLMSP2 to Human Immunoglobulin M Is Conserved among Broadly Diverged Sequence Variants.

    Crosnier, Cécile / Iqbal, Zamin / Knuepfer, Ellen / Maciuca, Sorina / Perrin, Abigail J / Kamuyu, Gathoni / Goulding, David / Bustamante, Leyla Y / Miles, Alistair / Moore, Shona C / Dougan, Gordon / Holder, Anthony A / Kwiatkowski, Dominic P / Rayner, Julian C / Pleass, Richard J / Wright, Gavin J

    The Journal of biological chemistry

    2016  Volume 291, Issue 27, Page(s) 14285–14299

    Abstract: Diversity at pathogen genetic loci can be driven by host adaptive immune selection pressure and may reveal proteins important for parasite biology. Population-based genome sequencing of Plasmodium falciparum, the parasite responsible for the most severe ... ...

    Abstract Diversity at pathogen genetic loci can be driven by host adaptive immune selection pressure and may reveal proteins important for parasite biology. Population-based genome sequencing of Plasmodium falciparum, the parasite responsible for the most severe form of malaria, has highlighted two related polymorphic genes called dblmsp and dblmsp2, which encode Duffy binding-like (DBL) domain-containing proteins located on the merozoite surface but whose function remains unknown. Using recombinant proteins and transgenic parasites, we show that DBLMSP and DBLMSP2 directly and avidly bind human IgM via their DBL domains. We used whole genome sequence data from over 400 African and Asian P. falciparum isolates to show that dblmsp and dblmsp2 exhibit extreme protein polymorphism in their DBL domain, with multiple variants of two major allelic classes present in every population tested. Despite this variability, the IgM binding function was retained across diverse sequence representatives. Although this interaction did not seem to have an effect on the ability of the parasite to invade red blood cells, binding of DBLMSP and DBLMSP2 to IgM inhibited the overall immunoreactivity of these proteins to IgG from patients who had been exposed to the parasite. This suggests that IgM binding might mask these proteins from the host humoral immune system.
    MeSH term(s) Animals ; Antigens, Protozoan/metabolism ; Humans ; Immunoglobulin M/metabolism ; Plasmodium falciparum/metabolism ; Protein Binding ; Protozoan Proteins/metabolism
    Chemical Substances Antigens, Protozoan ; Immunoglobulin M ; Protozoan Proteins ; merozoite major surface antigen, Plasmodium
    Language English
    Publishing date 2016-05-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2997-x
    ISSN 1083-351X ; 0021-9258
    ISSN (online) 1083-351X
    ISSN 0021-9258
    DOI 10.1074/jbc.M116.722074
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  5. Article ; Online: Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

    Arita, Ken / South, Andrew P / Hans-Filho, Günter / Sakuma, Thais Harumi / Lai-Cheong, Joey / Clements, Suzanne / Odashiro, Maçanori / Odashiro, Danilo Nakao / Hans-Neto, Günter / Hans, Nelise Ritter / Holder, Maxine V / Bhogal, Balbir S / Hartshorne, Sian T / Akiyama, Masashi / Shimizu, Hiroshi / McGrath, John A

    American journal of human genetics

    2007  Volume 82, Issue 1, Page(s) 73–80

    Abstract: ... missense mutations in the OSMR gene, encoding oncostatin M-specific receptor beta (OSMRbeta), in three families ... OSMRbeta is a component of the oncostatin M (OSM) type II receptor and the interleukin (IL)-31 receptor ...

    Abstract Familial primary localized cutaneous amyloidosis (FPLCA) is an autosomal-dominant disorder associated with chronic skin itching and deposition of epidermal keratin filament-associated amyloid material in the dermis. FPLCA has been mapped to 5p13.1-q11.2, and by candidate gene analysis, we identified missense mutations in the OSMR gene, encoding oncostatin M-specific receptor beta (OSMRbeta), in three families. OSMRbeta is a component of the oncostatin M (OSM) type II receptor and the interleukin (IL)-31 receptor, and cultured FPLCA keratinocytes showed reduced activation of Jak/STAT, MAPK, and PI3K/Akt pathways after OSM or IL-31 cytokine stimulation. The pathogenic amino acid substitutions are located within the extracellular fibronectin type III-like (FNIII) domains, regions critical for receptor dimerization and function. OSM and IL-31 signaling have been implicated in keratinocyte cell proliferation, differentiation, apoptosis, and inflammation, but our OSMR data in individuals with FPLCA represent the first human germline mutations in this cytokine receptor complex and provide new insight into mechanisms of skin itching.
    MeSH term(s) Amino Acid Sequence ; Amyloidosis, Familial/genetics ; Amyloidosis, Familial/pathology ; Brazil ; Cell Culture Techniques ; Chromosomes, Human, Pair 5 ; DNA Mutational Analysis ; Female ; Genes, Dominant ; Humans ; Keratinocytes ; Male ; Molecular Sequence Data ; Mutation, Missense ; Oncostatin M Receptor beta Subunit/chemistry ; Oncostatin M Receptor beta Subunit/genetics ; Pedigree ; Sequence Homology ; South Africa ; United Kingdom
    Chemical Substances OSMR protein, human ; Oncostatin M Receptor beta Subunit
    Language English
    Publishing date 2007-11-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2007.09.002
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    Zs.A 107: Show issues Location:
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  6. Article ; Online: Timing is Everything: Neoadjuvant Versus Adjuvant Immunotherapy in Patients with Resectable Metastatic Melanoma.

    Holder, Ashley M / Wargo, Jennifer A / Ross, Merrick I

    Annals of surgical oncology

    2023  Volume 30, Issue 12, Page(s) 6953–6957

    Language English
    Publishing date 2023-08-19
    Publishing country United States
    Document type Editorial
    ZDB-ID 1200469-8
    ISSN 1534-4681 ; 1068-9265
    ISSN (online) 1534-4681
    ISSN 1068-9265
    DOI 10.1245/s10434-023-14133-8
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    Zs.A 4042: Show issues Location:
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  7. Article ; Online: Correction: Timing is Everything: Neoadjuvant Versus Adjuvant Immunotherapy in Patients with Resectable Metastatic Melanoma.

    Holder, Ashley M / Wargo, Jennifer A / Ross, Merrick I

    Annals of surgical oncology

    2023  Volume 30, Issue 12, Page(s) 7688

    Language English
    Publishing date 2023-08-29
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 1200469-8
    ISSN 1534-4681 ; 1068-9265
    ISSN (online) 1534-4681
    ISSN 1068-9265
    DOI 10.1245/s10434-023-14252-2
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  8. Article: Kurz- und langwirksame Insulinanaloga: Studienlage und möglicher therapeutischer Nutzen für Kinder und Jugendliche. Mehr Möglichkeiten für individuellere therapeutische Lösungen. Rapid- and long-acting insulin analogs: current data and possible therapeutic benefit for children and adolescents

    Holder, M.

    Pädiatrische Praxis

    2021  Volume 95, Issue 4, Page(s) 615

    Language German
    Document type Article
    ZDB-ID 123435-3
    ISSN 0030-9346
    Database Current Contents Medicine

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  9. Article: Kurz- und langwirksame Insulinanaloga: Studienlage und möglicher therapeutischer Nutzen für Kinder und Jugendliche. Mehr Möglichkeiten für individuellere therapeutische Lösungen. Rapid- and long-acting insulin analogs: current data and possible therapeutic benefit for children and adolescents

    Holder, M.

    Tägliche Praxis

    2021  Volume 65, Issue 2, Page(s) 269

    Language German
    Document type Article
    ZDB-ID 506157-X
    ISSN 0494-464X
    Database Current Contents Medicine

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  10. Article ; Online: Off-Axis Loading Fixture for Spine Biomechanics: Combined Compression and Bending.

    Moore, Axel C / Holder, Dione A / Elliott, Dawn M

    Journal of biomechanical engineering

    2023  Volume 145, Issue 10

    Abstract: The spine is a multi-tissue musculoskeletal system that supports large multi-axial loads and motions during physiological activities. The healthy and pathological biomechanical function of the spine and its subtissues are generally studied using ... ...

    Abstract The spine is a multi-tissue musculoskeletal system that supports large multi-axial loads and motions during physiological activities. The healthy and pathological biomechanical function of the spine and its subtissues are generally studied using cadaveric specimens that often require multi-axis biomechanical test systems to mimic the complex loading environment of the spine. Unfortunately, an off-the-shelf device can easily exceed 200,000 USD, while a custom device requires extensive time and experience in mechatronics. Our goal was to develop a cost-appropriate compression and bending (flexion-extension and lateral bending) spine testing system that requires little time and minimal technical knowledge. Our solution was an off-axis loading fixture (OLaF) that mounts to an existing uni-axial test frame and requires no additional actuators. OLaF requires little machining, with most components purchased off-the-shelf, and costs less than 10,000 USD. The only external transducer required is a six-axis load cell. Furthermore, OLaF is controlled using the existing uni-axial test frame's software, while the load data is collected using the software included with the six-axis load cell. Here we provide the design rationale for how OLaF develops primary motions and loads and minimizes off-axis secondary constraints, verify the primary kinematics using motion capture, and demonstrate that the system is capable of applying physiologically relevant, noninjurious, axial compression and bending. While OLaF is limited to compression and bending studies it produces repeatable physiologically relevant biomechanics, with high quality data, and minimal startup costs.
    MeSH term(s) Humans ; Biomechanical Phenomena ; Spine ; Motion ; Weight-Bearing/physiology ; Pressure ; Range of Motion, Articular/physiology
    Language English
    Publishing date 2023-06-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 243094-0
    ISSN 1528-8951 ; 0148-0731
    ISSN (online) 1528-8951
    ISSN 0148-0731
    DOI 10.1115/1.4062780
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