Results 91 to 100 of about 3,646,381 (383)
White-matter abnormalities in presymptomaticGRNandC9orf72mutation carriers
Brain Communications, 2022 AbstractA large proportion of familial frontotemporal dementia is caused by TAR DNA-binding protein 43 (transactive response DNA-binding protein 43 kDa) proteinopathies. Accordingly, carriers of autosomal dominant mutations in the genes associated with TAR DNA-binding protein 43 aggregation, such as Chromosome 9 open reading frame 72 (C9orf72) or ...
Hyunwoo Lee +6 more
openaire +3 more sources
Making tau amyloid models in vitro: a crucial and underestimated challenge
FEBS Letters, EarlyView.This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley +1 more source
PLOS Genetics, 2019 [This corrects the article DOI: 10.1371/journal.pgen.1002653.].
Hauswirth, Regula +18 more
openaire +4 more sources
FEBS Letters, EarlyView.The S1025 peptide is the major antidote to the YrzI toxin, which we renamed here as SpyT (Small Peptide YrzI Toxin) and SpyA (Small Peptide YrzI Antitoxin) (1). Degradation of the toxin–antitoxin spyTA mRNA, either by a translation‐dependent cleavage by the endoribonuclease Rae1 (2) or by direct attack by 3′‐exoribonucleases (3), also contributes to ...
Laetitia Gilet +4 more
wiley +1 more source
Jornal de Pediatria (Versão em Português), 2013 Objective: To determine whether three variants (388 G>A, 521 T>C, and 463 C>A) of the solute carrier organic anion transporter family member 1B1 (SLCO1B1) are associated with neonatal hyperbilirubinemia.
Jiebo Liu +4 more
doaj +1 more source
A New DARS2 Mutation Discovered in an Adult Patient
Case Reports in Neurology, 2020 We report a case of an adult patient suffering from leukoencephalopathy with brainstem and spinal cord involvement and elevated white matter lactate (LBSL) caused by a DARS2 polymorphism.
Rosy N’Gbo N’Gbo Ikazabo +4 more
doaj +1 more source
Local asymptotic stability of a system of integro-differential equations describing clonal evolution of a self-renewing cell population under mutation [PDF]
arXiv, 2020 In this paper we consider a system of non-linear integro-differential equations (IDEs) describing evolution of a clonally heterogeneous population of malignant white blood cells (leukemic cells) undergoing mutation and clonal selection. We prove existence and uniqueness of non-trivial steady states and study their asymptotic stability.
arxiv
A Spatial Mutation Model with Increasing Mutation Rates [PDF]
arXiv, 2021 We consider a spatial model of cancer in which cells are points on the $d$-dimensional torus $\mathcal{T}=[0,L]^d$, and each cell with $k-1$ mutations acquires a $k$th mutation at rate $\mu_k$. We will assume that the mutation rates $\mu_k$ are increasing, and we find the asymptotic waiting time for the first cell to acquire $k$ mutations as the torus ...
arxiv
Identification of novel small molecule inhibitors of ETS transcription factors
FEBS Letters, EarlyView.ETS transcription factors play an essential role in tumourigenesis and are indispensable for sprouting angiogenesis, a hallmark of cancer, which fuels tumour expansion and dissemination. Thus, targeting ETS transcription factor function could represent an effective, multifaceted strategy to block tumour growth. The evolutionarily conserved E‐Twenty‐Six
Shaima Abdalla +9 more
wiley +1 more source
Molecular lesions associated with white gene mutations induced by I-R hybrid dysgenesis in Drosophila melanogaster [PDF]
, 1984 We have identified molecular lesions associated with six mutations, w(IR2) and w(IR4-8), of the white gene of Drosophila melanogaster. These mutations arose in flies subject to I-R hybrid dysgenesis.
Bucheton, A +3 more
core +1 more source