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  1. Artikel ; Online: Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes

    Elizabeth Hutchins / Rebecca Reiman / Joseph Winarta / Taylor Beecroft / Ryan Richholt / Matt De Both / Khalouk Shahbander / Elizabeth Carlson / Alex Janss / Ashley Siniard / Chris Balak / Ryan Bruhns / Timothy G. Whitsett / Roger McCoy / Matthew Anastasi / April Allen / Brian Churas / Matthew Huentelman / Kendall Van Keuren-Jensen

    Scientific Data, Vol 8, Iss 1, Pp 1-

    2021  Band 12

    Abstract: Measurement(s) transcriptome • RNA(circular) Technology Type(s) RNA sequencing Factor Type(s) biofluid Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare ... ...

    Abstract Measurement(s) transcriptome • RNA(circular) Technology Type(s) RNA sequencing Factor Type(s) biofluid Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare.14991822
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2021-10-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Case Report

    Erika Banuelos / Keri Ramsey / Newell Belnap / Malavika Krishnan / Chris Balak / Szabolcs Szelinger / Ashley L. Siniard / Megan Russell / Ryan Richholt / Matt De Both / Ignazio Piras / Marcus Naymik / Ana M. Claasen / Sampathkumar Rangasamy / Matthew J. Huentelman / David W. Craig / Philippe M. Campeau / Vinodh Narayanan / Isabelle Schrauwen

    F1000Research, Vol

    Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

    2017  Band 6

    Abstract: Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a ... ...

    Abstract Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c.1078C>T; p.Arg360Cys and c.404C>T; p.Pro135Leu). The female proband who presents with a severe neurological phenotype carries both of these mutations in a compound heterozygous state. The p.Pro135Leu variant, however, is present in the proband’s mother and sibling as well, and is consistent with an autosomal dominant pattern linked to tonic-clonic and myoclonic epilepsy. In conclusion, we describe a single family in which TBC1D24 mutations cause expanded dominant and recessive phenotypes. In addition, we discuss and highlight that some variants in TBC1D24 might cause a dominant susceptibility to epilepsy
    Schlagwörter Medical Genetics ; Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2017-04-01T00:00:00Z
    Verlag F1000 Research Ltd
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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