scholarly journals Clinical significance of molecular genetic changes in sporadic invasive pituitary adenomas

2001 ◽  
Vol 33 (3) ◽  
pp. 111-116 ◽  
Author(s):  
Do-Hyun Nam ◽  
Sang-Yong Song ◽  
Kyoungsook Park ◽  
Mi Hyun Kim ◽  
Yeon-Lim Suh ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Pituitary Adenomas ◽  
Molecular Genetic ◽  
Genetic Changes

A bigger brain for a more complex environment

2020 ◽  
Vol 31 (8) ◽  
pp. 803-816
Author(s):  
Umberto di Porzio
Keyword(s):  
Human Brain ◽  
Cognitive Abilities ◽  
Molecular Genetic ◽  
Adult Size ◽  
Genetic Changes ◽  
Cultural Challenges ◽  
Birth Canal ◽  
Newborn Brain ◽  
Neuronal Interactions ◽  
The Brain

AbstractThe environment increased complexity required more neural functions to develop in the hominin brains, and the hominins adapted to the complexity by developing a bigger brain with a greater interconnection between its parts. Thus, complex environments drove the growth of the brain. In about two million years during hominin evolution, the brain increased three folds in size, one of the largest and most complex amongst mammals, relative to body size. The size increase has led to anatomical reorganization and complex neuronal interactions in a relatively small skull. At birth, the human brain is only about 20% of its adult size. That facilitates the passage through the birth canal. Therefore, the human brain, especially cortex, develops postnatally in a rich stimulating environment with continuous brain wiring and rewiring and insertion of billions of new neurons. One of the consequence is that in the newborn brain, neuroplasticity is always turned “on” and it remains active throughout life, which gave humans the ability to adapt to complex and often hostile environments, integrate external experiences, solve problems, elaborate abstract ideas and innovative technologies, store a lot of information. Besides, hominins acquired unique abilities as music, language, and intense social cooperation. Overwhelming ecological, social, and cultural challenges have made the human brain so unique. From these events, as well as the molecular genetic changes that took place in those million years, under the pressure of natural selection, derive the distinctive cognitive abilities that have led us to complex social organizations and made our species successful.

scholarly journals Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes

2021 ◽  
Vol 10 (5) ◽  
pp. 1759-1771
Author(s):  
Xuefen Yan ◽  
Lu Wang ◽  
Lingxu Jiang ◽  
Yingwan Luo ◽  
Peipei Lin ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Myelodysplastic Syndromes ◽  
Molecular Genetic ◽  
Chinese Patients ◽  
Genetic Abnormalities

scholarly journals Chronic Alcohol Use Induces Molecular Genetic Changes in the Dorsomedial Thalamus of People with Alcohol-Related Disorders

2021 ◽  
Vol 11 (4) ◽  
pp. 435
Author(s):  
Andreas-Christian Hade ◽  
Mari-Anne Philips ◽  
Ene Reimann ◽  
Toomas Jagomäe ◽  
Kattri-Liis Eskla ◽  
...  
Keyword(s):  
Alcohol Use ◽  
Molecular Genetic ◽  
Brain Structures ◽  
Thalamic Nuclei ◽  
Genetic Changes ◽  
Molecular Changes ◽  
Gabaergic Neurotransmission ◽  
And Control ◽  
Upregulated Genes

The Mediodorsal (MD) thalamus that represents a fundamental subcortical relay has been underrepresented in the studies focusing on the molecular changes in the brains of subjects with alcohol use disorder (AUD). In the current study, MD thalamic regions from AUD subjects and controls were analyzed with Affymetrix Clariom S human microarray. Long-term alcohol use induced a significant (FDR ≤ 0.05) upregulation of 2802 transcripts and downregulation of 1893 genes in the MD thalamus of AUD subjects. A significant upregulation of GRIN1 (glutamate receptor NMDA type 1) and FTO (alpha-ketoglutarate dependent dioxygenase) was confirmed in western blot analysis. Immunohistochemical staining revealed similar heterogenous distribution of GRIN1 in the thalamic nuclei of both AUD and control subjects. The most prevalent functional categories of upregulated genes were related to glutamatergic and GABAergic neurotransmission, cellular metabolism, and neurodevelopment. The prevalent gene cluster among down-regulated genes was immune system mediators. Forty-two differentially expressed genes, including FTO, ADH1B, DRD2, CADM2, TCF4, GCKR, DPP6, MAPT and CHRH1, have been shown to have strong associations (FDR p < 10−8) with AUD or/and alcohol use phenotypes in recent GWA studies. Despite a small number of subjects, we were able to detect robust molecular changes in the mediodorsal thalamus caused by alcohol emphasizing the importance of deeper brain structures such as diencephalon, in the development of AUD-related dysregulation of neurocircuitry.

Molecular Genetic Changes in Alveolar Soft Part Sarcoma

1998 ◽  
Vol 18 (6) ◽  
pp. 529-543
Author(s):  
Agnes S. Chan ◽  
Jeremy A. Squire ◽  
Paul Thorner ◽  
Maria Zielenska
Keyword(s):  
Soft Part ◽  
Molecular Genetic ◽  
Alveolar Soft Part Sarcoma ◽  
Genetic Changes

scholarly journals Lipid profile indices in young people with GCK-MODY and HNF1A-MODY

2022 ◽  
Vol 17 (4) ◽  
pp. 43-47
Author(s):  
A. K. Ovsyannikova ◽  
I. A. Belyaeva ◽  
R. B. Galenok ◽  
O. D. Rymar
Keyword(s):  
Body Mass Index ◽  
Young People ◽  
Lipid Profile ◽  
Clinical Significance ◽  
Molecular Genetic ◽  
Research Work ◽  
Young Patients ◽  
Lipid Spectrum

Despite the fact that most young patients with hyperglycemia are diagnosed with type 1 (T1DM) and type 2 (T2DM) diabetes, up to 10 % of all cases of the disease are MODY diabetes. The most common types of MODY are GCK-MODY and HNF1A-MODY, therefore the investigation of their clinical and laboratory characteristics, including lipid spectrum indicators is of high clinical significance. The aim of this research work was to study the values of lipid spectrum indicators in patients diagnosed with GCK-MODY and HNF1A-MODY at the age from 18 to 45 years. Lipid profile parameters were investigated in 56 patients aged 18 to 45 years with diagnosed GCK-MODY and HNF1A-MODY by molecular genetic tests, matched by sex, age and body mass index (BMI). No statistically significant differences were found for any of the indicators, however, in patients with HNF1A-MODY, the decrease in HDL-C is determined significantly more often than in GCKMODY. Thus, the group of persons with MODY differs in the level of lipid profile indices depending on the type of MODY.

scholarly journals Molecular genetic changes in gastric carcinoma

2021 ◽  
Vol 6 ◽  
pp. 30-46
Author(s):  
Juhi Singh ◽  
Puneet Kumar ◽  
Khushi Verma ◽  
Satyender Kumar Tiwary ◽  
Gopeshwar Narayan ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Gastric Carcinoma ◽  
Wide Spectrum ◽  
Molecular Genetic ◽  
Survival Rates ◽  
High Throughput Analysis ◽  
Genetic Changes ◽  
Genetic Level ◽  
New Biomarkers

Gastric cancer remains highly prevalent and accounts for a notable proportion of global cancer mortality and this is associated with poor survival rates. Understanding the molecular genetic changes of gastric carcinoma may offer an insight into its pathogenesis helps in identifying new biomarkers, aid prognostication, and novel treatment targets. Over a past few decades, advances in technology and high throughput analysis have improved understanding of the molecular genetic aspects of gastric cancer. In this article, hierarchy of the changes at genetic and molecular level including several aspects which are heterogenous and represents a wide spectrum such as tumor suppressor genes, oncogenes, cellcycle regulators, apoptosis, cell-adhesion molecules, loss of heterozygosity, microsatellite instability, and epigenetic changes. The classification of gastric carcinoma at molecular and genetic level as well as hereditary gastric carcinoma is elaborated. The molecular genetic aspects regarding pathogenesis, changes and aberrations of all genes and pathways which are involved in gastric cancer are addressed in this review.

scholarly journals Metabolic and molecular-genetic changes in the liver during carbon tetrachloride intoxication

2020 ◽  
Vol 99 (9) ◽  
pp. 996-1000
Author(s):  
Denis O. Karimov ◽  
Tatyana G. Kutlina ◽  
Guzel’ F. Mukhammadiyeva ◽  
Yana V. Valova ◽  
Samat S. Baygildin ◽  
...  
Keyword(s):  
Gene Expression ◽  
Blood Serum ◽  
Pearson Correlation ◽  
Molecular Genetic ◽  
Experimental Studies ◽  
Pcr Amplification ◽  
Statistical Processing ◽  
Male Rats ◽  
Clinical Test ◽  
Genetic Changes

Introduction. Toxic hepatitis (TH) is a complex and multifaceted disease, the development of which is mediated by a complex of biochemical and molecular genetic interactions. The current understanding of the pathogenesis of TH and, as a consequence, its treatment is based on standardization of the phenotype of the disease, often without taking into account metabolic disorders within the cells. Material and methods. experimental studies were performed on white outbred male rats weighing 200-220 g. A 50% solution of TCM was used as a toxicant. Biochemical studies were performed on a laboratory medical photometer “Stat Fax 3300” using clinical test kits and control materials manufactured by Vector-Best LLC. Liver tissue for histological examination was subjected to the standard histological procedure and paraffin embedding. Sections 5-7 μm thick were stained with hematoxylin-eosin. Gene expression analysis was performed using real-time PCR amplification on a RotorGene instrument (QIAGEN). Statistical processing of experimental data was performed using the Pearson correlation coefficient and one-way analysis of variance (ANOVA). The results were considered reliable at p <0.05. Results. As a result of the analysis of the correlation of the expression of the studied genes and the level of biochemical parameters, it was found that the correlation of the expression of the Nfe2l2 and Gstm1 genes was r = 0.812 (p = 0.0001). The dynamics of gene expression of Chek, Gstm1, Gstp1, Nfe2l2, had a negative correlation with the level of AST activity in blood serum. And the expression of the genes Chek, Gclc, Gstm1, Nfe2l2, Ripk, Sod1 with an index of ALT activity in the blood serum. After 72 hours, the expression of almost all of the studied genes became multidirectional. And the correlation between indices is often not determined. An analysis of the relationship between the level of cytolysis enzymes and the correlation level of the studied genes showed that after 72 hours the correlation was observed in the Gstm1, Hmox, and Sod1 genes with the levels of AST and ALT.

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