BMS1 Is Mutated in Aplasia Cutis Congenita

Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified in ACC that is associated with a delay in 18S rRNA maturation, consistent with a role of BMS1 in processing of pre-rRNAs of the small ribosomal subunit. Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. Unbiased comparative global transcript and proteomic analyses of ACC fibroblasts with this mutation confirm a central role of increased p21 levels for the ACC phenotype, which are associated with downregulation of heterogenous nuclear ribonucleoproteins (hnRNPs) and serine/arginine-rich splicing factors (SRSFs). Functional enrichment analysis of the proteomic data confirmed a defect in RNA post-transcriptional modification as the top-ranked cellular process altered in ACC fibroblasts. The data provide a novel link between BMS1, the cell cycle, and skin morphogenesis

Against The Populist Ressentiment

Populist discourses, despite their multiple differences and often oppositional political agendas, share a common feature. This feature is the construction of a notion of “the people” as “the underdog” that stands against the essentialist politics of “the elites.” In this article, I argue that this construction of “the people” is fundamentally problematic due to two, interconnected reasons. First, the primacy which is given to “the people” as a political agent, who is the rightful holder of a notion of “common good,” leads to the formation of politics that are essentialist and exclusionary. Drawing from Max Stirner’s notion of the “spook” or “phantasm,” I argue that “the people” become such and thus, the political demands of populist discourses remain “haunted” by this moral primacy of “the people.” Secondly, the construction of “the people” as “the underdog” suggests that their construction is based on negative feelings of envy and revenge, what Friedrich Nietzsche diagnosed as the feeling of ressentiment. This feeling of ressentiment renders the political demands of populism incapable of producing an affirmative version of politics. As a result, populist discourses not only are incapable of becoming a threat to the fatalistic, neoliberal politics of the capitalist market but at worse they become their accomplices

„Jest to nomos bardzo różny od prawa”: o anarchii i prawie

The relationship between anarchy and the law is, to say the least, an uncomfortable one. The so-called ‘classical’ anarchist position – in all its heterogeneous tendencies – is, usually, characterised by a total opposition against the law. However and despite its invaluable contribution and the ever-pertinent critique of the state of affairs, this ‘classical’ anarchist position needs to be re-examined and rearticulated if it is to pose an effective nuisance to the current (and much complex) mechanisms of domination and the oppression of dogmatism and dominance of the law. Taking into account the aforementioned challenges, in this article, I examine and develop two notions of the philosophical thought of Gilles Deleuze, namely that of the institution and that of the nomos of the nomads. In doing so, I aim to think anew the relationship between anarchy and the law and, ultimately, to point towards an ethico-political account, of what I shall call an an-archic nomos which escapes (or, at least, tries to) the dogmatism and “archist” mentality of the law.Relacja pomiędzy anarchią a prawem jest, delikatnie mówiąc, niewygodna. Tak zwane „klasyczne” stanowisko anarchistyczne – we wszystkich jego heterogenicznych tendencjach – charakteryzuje się zazwyczaj całkowitym sprzeciwem wobec prawa. Jednakże, pomimo swojego nieocenionego wkładu i nieustannie aktualnej krytyki stanu rzeczy, ta „klasyczna” pozycja anarchistyczna musi zostać ponownie zbadana i ponownie wyartykułowana, jeśli ma stanowić skuteczną przeszkodę dla obecnych (i bardzo złożonych) mechanizmów dominacji i opresji dogmatyzmu i dominacji prawa. Biorąc pod uwagę powyższe wyzwania, w niniejszym artykule analizuję i rozwijam dwa pojęcia myśli filozoficznej Gilles’a Deleuze’a, a mianowicie pojęcie instytucji oraz pojęcie nomosu nomadów. W ten sposób chcę na nowo przemyśleć relację między anarchią a prawem i ostatecznie wskazać na etyczno-polityczne ujęcie tego, co nazywam an-archicznym nomosem, który wymyka się (lub przynajmniej próbuje) dogmatyzmowi i „archistycznej” mentalności prawa

Deleuze and Human Rights: The Optimism and Pessimism of ’68

The paper takes as its point of departure the claim of Alain Badiou that the events of 1968 have two possible outcomes, “one pessimistic” and one “optimistic” (2015: 43-44). It suggests that one of the main manifestations of the pessimistic outcome is the triumph of human rights thought as a form of the only true measure of morality, a new transcendent subject. On the other hand, it suggests that one of the optimistic outcomes of 1968 is the political turn that the philosophical thought of Gilles Deleuze took as a result of the events of '68. The paper brings together these two oppositional manifestations of '68 by exploring and critically examining the critique of human rights of Deleuze. In particular, it focuses on his claim that rights are a new form of "transcendence." As such, the paper explores Deleuze’s critical comments on the notion of transcendence and his preference for an immanent mode of thought, and it tries to connect this with his critique of rights, through the distinction he makes between ethics and morality. The paper argues that such an exploration, potentially, points towards a new way of thinking ethically about human rights or beyond them