Eine hypofunktionelle Mutation in der Polynukleotid-Phosphorylase führt zu einer autosomal-rezessiven nicht-syndromalen Hörstörung [PDF]
, 2011 Hörstörungen sind beim Menschen mit einer Prävalenz von 1 bis 2 auf 1000 Neugeborene die häufigste Erkrankung der Sinnesorgane. Kongenitale Hörstörungen können sowohl genetische als auch umweltbedingte Ursachen haben, wobei in Industrieländern mindestens
Ameln, Simon von
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Polyribonucleotide nucleotidyltransferase 1 (PNPT1; PNPASE) [PDF]
Science-Business eXchange, 2010 openaire +1 more source
Analyzing the functions of human polynucleotide phosphorylase (hPNPaseold-35) [PDF]
, 2013 RNA degradation plays a fundamental role in maintaining cellular homeostasis, along with being a part of normal regulatory mechanisms, whether it occurs as a surveillance mechanism eliminating aberrant mRNAs or during RNA processing to generate mature ...
Sokhi, Upneet K.
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CNS disease associated with enhanced type I interferon signalling
The ability to mount an interferon-mediated innate immune response is essential in protection against neurotropic viruses, but antiviral type 1 interferons also have neurotoxic potential.
Crow, Yanick J
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MYCN amplification and ATRX mutations are incompatible in neuroblastoma [PDF]
, 2020 Chen, Xiang +2 more
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Gasdermin D permeabilization of mitochondrial inner and outer membranes accelerates and enhances pyroptosis. [PDF]
Immunity, 2023 Miao R +26 more
europepmc +1 more source
Características de la hipoacusia en pacientes con variantes del gen COL2A1 (Síndrome de stickler tipo 1) [PDF]
Introduction: Stickler syndrome type 1 (STL1) is an autosomal dominant genetic disorder, which affects the connective tissue. It is characterized by ocular, orofacial, skeletal, and auditory abnormalities.
Fábrega Torrano, María
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Cardiomyocyte lncRNA Cpat maintains cardiac homeostasis and mitochondria function by targeting citrate synthase acetylation. [PDF]
Nat CommunYu F +12 more
europepmc +1 more source