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  1. Artikel ; Online: Intellectual disability syndrome associated with a homozygous founder variant in

    Birnbaum, Rivka / Ezer, Shlomit / Lotan, Nava Shaul / Eilat, Avital / Sternlicht, Keren / Benyamini, Lilach / Reish, Orit / Falik-Zaccai, Tzipora / Ben-Gad, Gali / Rod, Raya / Segel, Reeval / Kim, Katherine / Burton, Barabra / Keegan, Catherine E / Wagner, Mallory / Henderson, Lindsay B / Mor, Nofar / Barel, Ortal / Hirsch, Yoel /
    Meiner, Vardiella / Elpeleg, Orly / Harel, Tamar / Mor-Shakad, Hagar

    Journal of medical genetics

    2024  Band 61, Heft 3, Seite(n) 289–293

    Abstract: Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to ... ...

    Abstract Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented.
    Methods: Proband-only or trio exome sequencing was performed on DNA samples obtained from affected individuals and available family members. The variant prioritisation process focused on identifying rare deleterious variants. International collaboration aided in the identification of additional affected individuals.
    Results: We identified 13 patients from 8 families of Ashkenazi Jewish origin who all carried the same homozygous frameshift variant in
    Conclusions: An Ashkenazi Jewish homozygous founder variant in
    Mesh-Begriff(e) Humans ; Intellectual Disability/genetics ; Jews/genetics ; Homozygote ; Syndrome ; Neurodevelopmental Disorders
    Sprache Englisch
    Erscheinungsdatum 2024-02-21
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109504
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

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  2. Artikel ; Online: A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

    Zivony-Elboum, Yifat / Westbroek, Wendy / Kfir, Nehama / Savitzki, David / Shoval, Yishay / Bloom, Assnat / Rod, Raya / Khayat, Morad / Gross, Bella / Samri, Walid / Cohen, Hector / Sonkin, Vadim / Freidman, Tatiana / Geiger, Dan / Fattal-Valevski, Aviva / Anikster, Yair / Waters, Aoife M / Kleta, Robert / Falik-Zaccai, Tzipora C

    Journal of medical genetics

    2012  Band 49, Heft 7, Seite(n) 462–472

    Abstract: Background: Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.: Methods: ... ...

    Abstract Background: Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.
    Methods: The authors performed neurological and developmental examinations on the affected individuals. The authors conducted whole genome linkage and haplotype analyses, followed by sequencing of candidate genes; RNA and protein expression studies; and finally proof of principle investigations on knockdown morpholino oligonucleotide injected zebrafish.
    Results: The authors characterise a novel form of autosomal recessive complex hereditary spastic paraparesis (CHSP). MRI studies of brain and spinal cord were normal. Within a single significantly linked locus the authors ultimately identified a homozygous missense mutation c.1146A>T (p.K382N) in the vacuolar protein sorting 37A (Vps37A) gene, fully penetrant and segregating with the disease in both families. Mobility was significantly reduced in Vps37A knockdown morpholino oligonucleotide injected zebrafish, supporting the causal relationship between mutations in this gene and the phenotype described in the patients of this study.
    Conclusions: The authors provide evidence for the involvement of Vps37A, a member of the endosomal sorting complex required for transport (ESCRT) system, in upper motor neuron disease. The ESCRT system has been shown to play a central role in intracellular trafficking, in the maturation of multivesicular bodies and the sorting of ubiquitinated membrane proteins into internal luminal vesicles. Further investigation of mechanisms by which dysfunction of this gene causes CHSP will contribute to the understanding of intracellular trafficking of vesicles by the ESCRT machinery and its relevance to CHSP.
    Mesh-Begriff(e) Animals ; Brain/metabolism ; Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 8/genetics ; Chromosomes, Human, Pair 8/metabolism ; Endosomal Sorting Complexes Required for Transport/genetics ; Endosomal Sorting Complexes Required for Transport/metabolism ; Female ; Founder Effect ; Gene Knockdown Techniques ; Genes, Recessive ; Genetic Linkage ; Haplotypes ; Homozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; Selection, Genetic ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/physiopathology ; Zebrafish
    Chemische Substanzen Endosomal Sorting Complexes Required for Transport ; VPS37A protein, human
    Sprache Englisch
    Erscheinungsdatum 2012-06-20
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2012-100742
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 177: Hefte anzeigen Standort:
    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)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

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