scholarly journals Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

2020 ◽  
Vol 52 (11) ◽  
pp. 1145-1150 ◽  
Author(s):  
Maria Kousi ◽  
Onuralp Söylemez ◽  
Aysegül Ozanturk ◽  
Niki Mourtzi ◽  
Sebastian Akle ◽  
...  
2019 ◽  
Vol 42 ◽  
Author(s):  
Laurel Symes ◽  
Thalia Wheatley

AbstractAnselme & Güntürkün generate exciting new insights by integrating two disparate fields to explain why uncertain rewards produce strong motivational effects. Their conclusions are developed in a framework that assumes a random distribution of resources, uncommon in the natural environment. We argue that, by considering a realistically clumped spatiotemporal distribution of resources, their conclusions will be stronger and more complete.


Author(s):  
K.R. Porter

Most types of cells are known from their structure and overall form to possess a characteristic organization. In some instances this is evident in the non-random disposition of organelles and such system subunits as cisternae of the endoplasmic reticulum or the Golgi complex. In others it appears in the distribution and orientation of cytoplasmic fibrils. And in yet others the organization finds expression in the non-random distribution and orientation of microtubules, especially as found in highly anisometric cells and cell processes. The impression is unavoidable that in none of these cases is the organization achieved without the involvement of the cytoplasmic ground substance (CGS) or matrix. This impression is based on the fact that a matrix is present and that in all instances these formed structures, whether membranelimited or filamentous, are suspended in it. In some well-known instances, as in arrays of microtubules which make up axonemes and axostyles, the matrix resolves itself into bridges (and spokes) between the microtubules, bridges which are in some cases very regularly disposed and uniform in size (Mcintosh, 1973; Bloodgood and Miller, 1974; Warner and Satir, 1974).


Author(s):  
Corazon D. Bucana

In the circulating blood of man and guinea pigs, glycogen occurs primarily in polymorphonuclear neutrophils and platelets. The amount of glycogen in neutrophils increases with time after the cells leave the bone marrow, and the distribution of glycogen in neutrophils changes from an apparently random distribution to large clumps when these cells move out of the circulation to the site of inflammation in the peritoneal cavity. The objective of this study was to further investigate changes in glycogen content and distribution in neutrophils. I chose an intradermal site because it allows study of neutrophils at various stages of extravasation.Initially, osmium ferrocyanide and osmium ferricyanide were used to fix glycogen in the neutrophils for ultrastructural studies. My findings confirmed previous reports that showed that glycogen is well preserved by both these fixatives and that osmium ferricyanide protects glycogen from solubilization by uranyl acetate.I found that osmium ferrocyanide similarly protected glycogen. My studies showed, however, that the electron density of mitochondria and other cytoplasmic organelles was lower in samples fixed with osmium ferrocyanide than in samples fixed with osmium ferricyanide.


VASA ◽  
2011 ◽  
Vol 40 (1) ◽  
pp. 6-19 ◽  
Author(s):  
Klein-Weigel ◽  
Opitz ◽  
Riemekasten

Due to its high association with Raynaud’s phenomenon systemic sclerosis (SSc) is probably the most common connective tissue disease seen by vascular specialists. In part 1 of our systematic overview we summarize classification concepts of scleroderma disorders, the epidemiologic and genetic burden, the complex pathophysiologic background, and the clinical features and the stage-dependent capillary microscopic features of SSc. Furthermore, we address the diagnostic recommendations propagated by the German Network for Systemic Sclerosis and the Task Force for Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology, the European Respiratory Society, and the International Society of Heart and Lung Transplantation.


2002 ◽  
pp. 337-378 ◽  
Author(s):  
Jozef Telega ◽  
Wlodzimierz Bielski

The aim of this contribution is mainly twofold. First, the stochastic two-scale convergence in the mean developed by Bourgeat et al. [13] is used to derive the macroscopic models of: (i) diffusion in random porous medium, (ii) nonstationary flow of Stokesian fluid through random linear elastic porous medium. Second, the multi-scale convergence method developed by Allaire and Briane [7] for the case of several microperiodic scales is extended to random distribution of heterogeneities characterized by separated scales (stochastic reiterated homogenization). .


Minerals ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 811
Author(s):  
Gabriel A. Barberes ◽  
Rui Pena dos Reis ◽  
Nuno L. Pimentel ◽  
André L. D. Spigolon ◽  
Paulo E. Fonseca ◽  
...  

The Baixo Alentejo Flysch Group (BAFG) is an important stratigraphic unit that covers over half of the South Portuguese Zone (SPZ) depositional area, and it is composed by three main tectono-stratigraphic units: the Mértola, Mira, and Brejeira formations. All of these formations contain significant thicknesses of black shales and have several wide areas with 0.81 wt.%, 0.91 wt.%, and 0.72 wt.% average total organic carbon (TOC) (respectively) and thermal maturation values within gas zones (overmature). This paper is considering new data from classical methods of organic geochemistry characterization, such as TOC, Rock–Eval pyrolysis, and organic petrography, to evaluate the unconventional petroleum system from the SPZ. A total of 53 samples were collected. From the stratigraphical point of view, TOC values seem to have a random distribution. The Rock–Eval parameters point out high thermal maturation compatible with gas window (overmature zone). The samples are dominated by gas-prone extremely hydrogen-depleted type III/IV kerogen, which no longer has the potential to generate and expel hydrocarbons. The petrographic analyses positioned the thermal evolution of these samples into the end of catagenesis to metagenesis (wet to dry gas zone), with values predominantly higher than 2 %Ro (dry gas zone). The presence of thermogenic hydrocarbon fluids characterized by previous papers indicate that the BAFG from SPZ represents a senile unconventional petroleum system, working nowadays basically as a gas reservoir.


Genetics ◽  
2000 ◽  
Vol 155 (3) ◽  
pp. 1119-1125
Author(s):  
Laura Wong ◽  
Lana Klionsky ◽  
Steve Wickert ◽  
Virginia Merriam ◽  
Eduardo Orias ◽  
...  

Abstract The macronucleus of the ciliate Tetrahymena thermophila contains a fragmented somatic genome consisting of several hundred identifiable chromosome pieces. These pieces are generated by site-specific fragmentation of the germline chromosomes and most of them are represented at an average of 45 copies per macronucleus. In the course of successive divisions of an initially heterozygous macronucleus, the random distribution of alleles of loci carried on these copies eventually generates macronuclei that are pure for one allele or the other. This phenomenon is called phenotypic assortment. We have previously reported the existence of loci that assort together (coassort) and hypothesized that these loci reside on the same macronuclear piece. The work reported here provides new, rigorous genetic support for the hypothesis that macronuclear autonomously replicating chromosome pieces are the physical basis of coassortment groups. Thus, coassortment allows the mapping of the somatic genome by purely genetic means. The data also strongly suggest that the random distribution of alleles in the Tetrahymena macronucleus is due to the random distribution of the MAC chromosome pieces that carry them.


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