scholarly journals Copy number abnormalities in new or progressive ‘neurocutaneous melanosis’ confirm it to be primary CNS melanoma

2016 ◽  
Vol 133 (2) ◽  
pp. 329-331 ◽  
Author(s):  
Veronica A. Kinsler ◽  
Satyamanaasa Polubothu ◽  
J. Eduardo Calonje ◽  
W. Kling Chong ◽  
Dominic Thompson ◽  
...  
2021 ◽  
pp. 33-38
Author(s):  
Catherine Peterson ◽  
Stephanie A. Toll ◽  
Bradley Kolb ◽  
Janet M. Poulik ◽  
Miguel Reyes-Mugica ◽  
...  

2016 ◽  
Vol 133 (2) ◽  
pp. 333-335 ◽  
Author(s):  
Adriana C. H. van Engen-van Grunsven ◽  
Katrin Rabold ◽  
Heidi V. N. Küsters-Vandevelde ◽  
Jos Rijntjes ◽  
Melika Djafarihamedani ◽  
...  

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�

2019 ◽  
Vol 1 (1) ◽  
pp. 6-12
Author(s):  
Fatima Javeria ◽  
Shazma Altaf ◽  
Alishah Zair ◽  
Rana Khalid Iqbal

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.


2020 ◽  
Author(s):  
◽  
Evelina Siavrienė

A Molecular and Functional Evaluation of Coding and Non-Coding Genome Sequence Variants and Copy Number Variants


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