The Origins and Consequences of Chromosome Pathology

2018 ◽  
Author(s):  
R. J McKinlay Gardner ◽  
David J Amor
Keyword(s):  
Structural Rearrangement ◽  
Epigenetic Mechanisms ◽  
Chromosome Mosaicism ◽  
Meiotic Nondisjunction ◽  
Considerable Detail ◽  
Clinical Abnormality

To deal intelligently with common questions from “chromosomal families,” counselors need a broad knowledge of how gametes form, how chromosomes behave, and how the early conceptus grows. This chapter describes the ways in which chromosomes are transmitted, and the ways in which these processes can go wrong and lead to clinical abnormality. The distinction is made between “pure” aneuploidies, and abnormalities due to structural rearrangement. In particular, meiotic nondisjunction, with respect to the generation of pure aneuploidy, is discussed in considerable detail. The origins of chromosome mosaicism are reviewed. Mention is made of abnormalities due to epigenetic mechanisms.

High-resolution observations of metastable γ’ precipitation in Al-15at.%Ag

1996 ◽  
Vol 54 ◽  
pp. 1004-1005
Author(s):  
N. V. Larcher ◽  
I. G. Solorzano
Keyword(s):  
Discontinuous Precipitation ◽  
Equilibrium Phase ◽  
Quantitative Description ◽  
Present Contribution ◽  
Α Phase ◽  
The Matrix ◽  
Aging Sequence ◽  
Matrix Precipitation ◽  
Considerable Detail ◽  
Kinetics Of

It is currently well established that, for an Al-Ag alloy quenched from the α phase and aged within the metastable solvus, the aging sequence is: supersaturated α → GP zones → γ’ → γ (Ag2Al). While GP zones and plate-shaped γ’ are metastable phases, continuously distributed in the matrix, formation of the equilibrium phase γ takes place at grain boundaries by discontinuous precipitation (DP). The crystal structure of both γ’ and γ is hep with the following orientation relationship with respect to the fee α matrix: {0001}γ′,γ // {111}α, <1120>γ′,γ, // <110>α.The mechanisms and kinetics of continuous matrix precipitation (CMP) in dilute Al-Ag alloys have been studied in considerable detail. The quantitative description of DP kinetics, however, has received less attention. The present contribution reports the microstructural evolution resulting from aging an Al-Ag alloy with Ag content higher than those previously reported in the literature, focusing the observations of γ' plate-shaped metastable precipitates.

Prenatal Acintebacter lwoffii exposure leads to protection against experimentally induced asthma in mice by epigenetic mechanisms

Pneumologie ◽  
2012 ◽  
Vol 66 (06) ◽  
Author(s):  
D Kesper ◽  
S Brand ◽  
R Teich ◽  
T Dicke ◽  
H Garn ◽  
...  
Keyword(s):  
Epigenetic Mechanisms ◽  
Experimentally Induced

Understanding Schizophrenia: Genetic Causes and Treatment

2019 ◽  
Vol 1 (1) ◽  
pp. 6-12
Author(s):  
Fatima Javeria ◽  
Shazma Altaf ◽  
Alishah Zair ◽  
Rana Khalid Iqbal
Keyword(s):  
Copy Number ◽  
Drug Targets ◽  
Disease Risk ◽  
Mental Disease ◽  
Copy Number Variants ◽  
Aminobutyric Acid ◽  
Epigenetic Mechanisms ◽  
Gamma Aminobutyric Acid ◽  
Wide Range ◽  
Severe Mental Disease

Schizophrenia is a severe mental disease. The word schizophrenia literally means split mind. There are three major categories of symptoms which include positive, negative and cognitive symptoms. The disease is characterized by symptoms of hallucination, delusions, disorganized thinking and speech. Schizophrenia is related to many other mental and psychological problems like suicide, depression, hallucinations. Including these, it is also a problem for the patient’s family and the caregiver. There is no clear reason for the disease, but with the advances in molecular genetics; certain epigenetic mechanisms are involved in the pathophysiology of the disease. Epigenetic mechanisms that are mainly involved are the DNA methylation, copy number variants. With the advent of GWAS, a wide range of SNPs is found linked with the etiology of schizophrenia. These SNPs serve as ‘hubs’; because these all are integrating with each other in causing of schizophrenia risk. Until recently, there is no treatment available to cure the disease; but anti-psychotics can reduce the disease risk by minimizing its symptoms. Dopamine, serotonin, gamma-aminobutyric acid, are the neurotransmitters which serve as drug targets in the treatment of schizophrenia. Due to the involvement of genetic and epigenetic mechanisms, drugs available are already targeting certain genes involved in the etiology of the disease.

CO2 Reduction to Propanol by Copper Foams: A Pre- and Post-Catalysis Study

2020 ◽  
Author(s):  
Jennifer A. Rudd ◽  
Ewa Kazimierska ◽  
Louise B. Hamdy ◽  
Odin Bain ◽  
Sunyhik Ahn ◽  
...  
Keyword(s):  
Carbon Dioxide ◽  
Photoelectron Spectroscopy ◽  
Carbon Capture ◽  
Surface Composition ◽  
Co2 Reduction ◽  
Structural Rearrangement ◽  
Copper Electrode ◽  
Ex Situ ◽  
X Ray ◽  
Copper Electrodes

The utilization of carbon dioxide is a major incentive for the growing field of carbon capture. Carbon dioxide could be an abundant building block to generate higher value products. Herein, we describe the use of porous copper electrodes to catalyze the reduction of carbon dioxide into higher value products such as ethylene, ethanol and, notably, propanol. For <i>n</i>-propanol production, faradaic efficiencies reach 4.93% at -0.83 V <i>vs</i> RHE, with a geometric partial current density of -1.85 mA/cm<sup>2</sup>. We have documented the performance of the catalyst in both pristine and urea-modified foams pre- and post-electrolysis. Before electrolysis, the copper electrode consisted of a mixture of cuboctahedra and dendrites. After 35-minute electrolysis, the cuboctahedra and dendrites have undergone structural rearrangement. Changes in the interaction of urea with the catalyst surface have also been observed. These transformations were characterized <i>ex-situ</i> using scanning electron microscopy, X-ray diffraction, and X-ray photoelectron spectroscopy. We found that alterations in the morphology, crystallinity, and surface composition of the catalyst led to the deactivation of the copper foams.

Two Consecutive Magneto-Structural Gas-Solid Transformations with Single-Crystal Retention in Non-Porous Molecular Materials

2018 ◽  
Author(s):  
Julia Miguel-Donet ◽  
Javier López-Cabrelles ◽  
Nestor Calvo Galve ◽  
Eugenio Coronado ◽  
Guillermo Minguez Espallargas
Keyword(s):  
Solid State ◽  
Single Crystal ◽  
Structural Rearrangement ◽  
Magnetic Behaviour ◽  
Porous Solids ◽  
Potential Applications ◽  
Hcl Gas ◽  
Porous Coordination Polymer ◽  
Gas Molecules ◽  
Magnetostructural Transformation

<p>Modification of the magnetic properties in a solid-state material upon external stimulus has attracted much attention in the recent years for their potential applications as switches and sensors. Within the field of coordination polymers, gas sorption studies typically focus on porous solids, with the gas molecules accommodating in the channels. Here we present a 1D non-porous coordination polymer capable of incorporating HCl gas molecules, which not only causes a reordering of its atoms in the solid state but also provokes dramatic changes in the magnetic behaviour. Subsequently, a further solid-gas transformation can occur with the extrusion of HCl gas molecules causing a second structural rearrangement which is also accompanied by modification in the magnetic path between the metal centres. Unequivocal evidence of the two-step magnetostructural transformation is provided by X-ray single-crystal diffraction.</p>

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