A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

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.

Sinai und sine

Leo Baeck

Grammatica Chaldaica : Methodo adeò facili conscripta, ut qvis proprio Marte sine manuductore hanc lingvam addiscere possit

Teilw. in hebr. Schr.

Ausst. 248 - Ḥuqat hap-pesaḥ. Ritus et celebratio phase iudeo[rum], cum orationibus eor[um], [et] benedictionibus mense ad littera[m] interp[re]tatis, cum omni obseruatione vti soliti su[n]t suu[m] pasca extra terra[m] p[ro]missionis sine esu agni pascalis celebrare

Per egrediu[m] doctorem. Thoma[m] murner ex hebreo in latinu[m] traducta eloquium

A geometric characterization of the upper bound for the span of the jones polynomial

Let D be a link diagram with n crossings, sA and sB be its extreme states and |sAD| (respectively, |sBD|) be the number of simple closed curves that appear when smoothing D according to sA (respectively, sB). We give a general formula for the sum |sAD| + |sBD| for a k-almost alternating diagram D, for any k, characterizing this sum as the number of faces in an appropriate triangulation of an appropriate surface with boundary. When D is dealternator connected, the triangulation is especially simple, yielding |sAD| + |sBD| = n + 2 - 2k. This gives a simple geometric proof of the upper bound of the span of the Jones polynomial for dealternator connected diagrams, a result first obtained by Zhu [On Kauffman brackets, J. Knot Theory Ramifications6(1) (1997) 125–148.]. Another upper bound of the span of the Jones polynomial for dealternator connected and dealternator reduced diagrams, discovered historically first by Adams et al. [Almost alternating links, Topology Appl.46(2) (1992) 151–165.], is obtained as a corollary. As a new application, we prove that the Turaev genus is equal to the number k of dealternator crossings for any dealternator connected diagram

Polynomial approximation using particle swarm optimization of lineal enhanced neural networks with no hidden layers.

This paper presents some ideas about a new neural network architecture that can be compared to a Taylor analysis when dealing with patterns. Such architecture is based on lineal activation functions with an axo-axonic architecture. A biological axo-axonic connection between two neurons is defined as the weight in a connection in given by the output of another third neuron. This idea can be implemented in the so called Enhanced Neural Networks in which two Multilayer Perceptrons are used; the first one will output the weights that the second MLP uses to computed the desired output. This kind of neural network has universal approximation properties even with lineal activation functions. There exists a clear difference between cooperative and competitive strategies. The former ones are based on the swarm colonies, in which all individuals share its knowledge about the goal in order to pass such information to other individuals to get optimum solution. The latter ones are based on genetic models, that is, individuals can die and new individuals are created combining information of alive one; or are based on molecular/celular behaviour passing information from one structure to another. A swarm-based model is applied to obtain the Neural Network, training the net with a Particle Swarm algorithm.

A. Gellii luculentiss. scriptoris Noctes atticae : castigatae sunt emaculataeq[ue] diuersorum codicum collatione, nec id tame[n] sine doctioris cuiusdam iudicio, à quo [et] graeca, quae passim deprauatissima erant, sunt recognita, [et] quantum licuit, gen

Lugar y ed. tomados del colofón

En torno a la luz. Architectura sine luce nulla architectura est = About light. Architectura sine luce nulla architectura est.

La luz es materia y material (de la esencialidad de la luz)

Polynomial regression using a perceptron with axo-axonic connections

Social behavior is mainly based on swarm colonies, in which each individual shares its knowledge about the environment with other individuals to get optimal solutions. Such co-operative model differs from competitive models in the way that individuals die and are born by combining information of alive ones. This paper presents the particle swarm optimization with differential evolution algorithm in order to train a neural network instead the classic back propagation algorithm. The performance of a neural network for particular problems is critically dependant on the choice of the processing elements, the net architecture and the learning algorithm. This work is focused in the development of methods for the evolutionary design of artificial neural networks. This paper focuses in optimizing the topology and structure of connectivity for these networks

Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site

Myogenin, one of the MyoD family of proteins, is expressed early during somitogenesis and is required for myoblast fusion in vivo. Previous studies in transgenic mice have shown that a 184-bp myogenin promoter fragment is sufficient to correctly drive expression of a β-galactosidase transgene during embryogenesis. We show here that mutation of one of the DNA motifs present in this region, the MEF3 motif, abolished correct expression of this β-galactosidase transgene. We have found that the proteins that bind to the MEF3 site are homeoproteins of the Six/sine oculis family. Antibodies directed specifically against Six1 or Six4 proteins reveal that each of these proteins is present in the embryo when myogenin is activated and constitutes a muscle-specific MEF3-binding activity in adult muscle nuclear extracts. Both of these proteins accumulate in the nucleus of C2C12 myogenic cells, and transient transfection experiments confirm that Six1 and Six4 are able to transactivate a reporter gene containing MEF3 sites. Altogether these results establish Six homeoproteins as a family of transcription factors controlling muscle formation through activation of one of its key regulators, myogenin.

Brain-wave representation of words by superposition of a few sine waves

Data from three previous experiments were analyzed to test the hypothesis that brain waves of spoken or written words can be represented by the superposition of a few sine waves. First, we averaged the data over trials and a set of subjects, and, in one case, over experimental conditions as well. Next we applied a Fourier transform to the averaged data and selected those frequencies with high energy, in no case more than nine in number. The superpositions of these selected sine waves were taken as prototypes. The averaged unfiltered data were the test samples. The prototypes were used to classify the test samples according to a least-squares criterion of fit. The results were seven of seven correct classifications for the first experiment using only three frequencies, six of eight for the second experiment using nine frequencies, and eight of eight for the third experiment using five frequencies.

Mg-SINE: a short interspersed nuclear element from the rice blast fungus, Magnaporthe grisea.

A short interspersed nuclear element, Mg-SINE, was isolated and characterized from the genome of the rice blast fungus, Magnaporthe grisea. Mg-SINE was isolated as an insertion element within Pot2, an inverted-repeat transposon from M. grisea and shows typical features of a mammalian SINE. Mg-SINE is present as a 0.47-kb interspersed sequence at approximately 100 copies per haploid genome in both rice and non-rice isolates of M. grisea, indicating a common evolutionary origin. Secondary structure analysis of Mg-SINE revealed a tRNA-related region at the 5' end which folds into a cloverleaf structure. Genomic fusions resulting in chimeric Mg-SINEs (Ch-SINEs) composed of a sequence homologous to Mg-SINE at the 3' end and an unrelated sequence at its 5' end were also isolated, indicating that this and other DNA rearrangements mediated by these elements may have a major effect on the genomic architecture of this fungus.

E-polynomial of the SL(3,C)-character variety of free groups.

We compute the E-polynomial of the character variety of representations of a rank r free group in SL(3,C). Expanding upon techniques of Logares, Muñoz and Newstead (Rev. Mat. Complut. 26:2 (2013), 635-703), we stratify the space of representations and compute the E-polynomial of each geometrically described stratum using fibrations. Consequently, we also determine the E-polynomial of its smooth, singular, and abelian loci and the corresponding Euler characteristic in each case. Along the way, we give a new proof of results of Cavazos and Lawton (Int. J. Math. 25:6 (2014), 1450058).