998 resultados para Warburg, Otto Heinrich,
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Friedrich Stoltze
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verfasst im Auftrag von Heinrich Emden. Rev. von Kracauer [[Elektronische Ressource]]
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Otto Blome
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We observed a hereditary phenotype in Alaskan Huskies, which was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV). The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees were consistent with a monogenic autosomal recessive inheritance. We localized the causative genetic defect to a 4 Mb interval on chromosome 19 by a combined linkage and homozygosity mapping approach. Whole genome sequencing of one affected dog, an obligate carrier and an unrelated control revealed a 218 bp SINE insertion into exon 7 of the RAB3GAP1 gene. The SINE insertion was perfectly associated with the disease phenotype in a cohort of 43 Alaskan Huskies and it was absent from 541 control dogs of diverse other breeds. The SINE insertion induced aberrant splicing and led to a transcript with a greatly altered exon 7. RAB3GAP1 loss-of-function variants in humans cause Warburg Micro Syndrome 1 (WARBM1), which is characterized by additional developmental defects compared to canine POANV, whereas Rab3gap1 deficient mice have a much milder phenotype than either humans or dogs. Thus the RAB3GAP1 mutant Alaskan Huskies provide an interesting intermediate phenotype that may help to better understand the function of RAB3GAP1 in development. Furthermore, the identification of the presumed causative genetic variant will enable genetic testing to avoid the non-intentional breeding of affected dogs.
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Boberach: Die Trennung der Kirche vom Staat nach [dem] Vorbild Belgiens bedeutet keine Gefahr für den Protestantismus, auch wenn sie [die Trennung] im Interesse der katholischen Kirche liegt
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Welsch (Projektbearbeiter): Antrag des Abgeordneten Simon auf eine Erklärung der Deutschen Nationalversammlung, daß die preußische oktroyierte Verfassung die Rechte der preußischen Bevölkerung verletze. Hintergrund: Auflösung der preußischen Nationalversammlung und Oktroyierung einer Verfassung am 5. Dez. 1848
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H. B.
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Daniel Jacoby
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C.