Genetic Basis of Dental Agenesis: Non-Syndromic Hypodontia

2021 ◽  
Vol 7 (4) ◽  
Author(s):  
Karamini A ◽  
◽  
Chavli A ◽  
Kritis A ◽  
◽  
...  
Keyword(s):  
Molecular Biology ◽  
Signaling Pathways ◽  
Current Literature ◽  
Genetic Basis ◽  
Human Genetics ◽  
Clinical Problem ◽  
Caucasian Population ◽  
Congenital Absence ◽  
Tooth Agenesis ◽  
Phenotype Correlation

Tooth agenesis or hypodontia is one of the most prevalent developmental anomalies of the human dentition which affects up to 8% of the Caucasian population. It is a quite heterogenous condition which describes the congenital absence of one or more teeth and can occur either with a syndrome (syndromic hypodontia) or without (non-syndromic hypodontia). Hypodontia still constitutes a challenging clinical problem. Our insight on the cause of tooth agenesis is increasing as a result of recent advances in the field of molecular biology and human genetics. Further research is needed to establish a genotype phenotype correlation and to fully understand the pathogenesis of tooth agenesis. This review presents the genes and signaling pathways associated with nonsyndromic hypodontia, based on the most current literature and provides an overview of novel genes that seem to contribute to dental agenesis.

MALAT1 as a Versatile Regulator of Cancer: Overview of the updates from Predatory role as Competitive Endogenous RNA to Mechanistic In-sights

2020 ◽  
Vol 20 ◽  
Author(s):  
Ammad Ahmad Farooqi ◽  
Evangelia Legaki ◽  
Maria Gazouli ◽  
Silvia Rinaldi ◽  
Rossana Berardi
Keyword(s):  
Molecular Biology ◽  
Detailed Analysis ◽  
Signaling Pathways ◽  
Individualized Medicine ◽  
Signaling Cascades ◽  
Oncogenic Signaling ◽  
Non Coding Rnas ◽  
Oncogenic Signaling Pathways ◽  
Competitive Endogenous Rna

: Central dogma of molecular biology has remained cornerstone of classical molecular biology but serendipitous discovery of microRNAs (miRNAs) in nematodes paradigmatically shifted our current understanding of the intricate mech-anisms which occur during transitions from transcription to translation. Discovery of miRNA captured tremendous attention and appreciation and we had witnessed an explosion in the field of non-coding RNAs. Ground-breaking discoveries in the field of non-coding RNAs have helped in better characterization of microRNAs and long non-coding RNAs (LncRNAs). There is an ever-increasing list of miRNA targets which are regulated by MALAT1 to stimulate or repress expression of tar-get genes. However, in this review our main focus is to summarize mechanistic insights related to MALAT1-mediated regu-lation of oncogenic signaling pathways. We have discussed how MALAT1 modulated TGF/SMAD and Hippo pathways in various cancers. We have also comprehensively summarized how JAK/STAT and Wnt/β-catenin pathways stimulated MALAT1 expression and consequentially how MALAT1 potentiated these signaling cascades to promote cancer. MALAT1 research has undergone substantial broadening however, there is still a need to identify additional mechanisms. MALAT1 is involved in multi-layered regulation of multiple transduction cascades and detailed analysis of different pathways will be helpful in getting a step closer to individualized medicine.

scholarly journals Prevalence and genetic basis of tooth agenesis

2009 ◽  
Vol 45 (1) ◽  
pp. 52-58 ◽  
Author(s):  
Takehiko Shimizu ◽  
Takahide Maeda
Keyword(s):  
Genetic Basis ◽  
Tooth Agenesis

scholarly journals Dentistry and Molecular Biology: A Promising Field for Tooth Agenesis Management

2012 ◽  
Vol 226 (4) ◽  
pp. 243-249 ◽  
Author(s):  
Breno Ramos Boeira Junior ◽  
Sergio Echeverrigaray
Keyword(s):  
Molecular Biology ◽  
Tooth Agenesis

scholarly journals Human genetic basis of interindividual variability in the course of infection

2015 ◽  
Vol 112 (51) ◽  
pp. E7118-E7127 ◽  
Author(s):  
Jean-Laurent Casanova
Keyword(s):  
Infectious Diseases ◽  
20Th Century ◽  
Genetic Basis ◽  
Human Genetics ◽  
Interindividual Variability ◽  
Background Information ◽  
Experimental Conditions ◽  
Life Threatening ◽  
History Of ◽  
The 19Th Century

The key problem in human infectious diseases was posed at the turn of the 20th century: their pathogenesis. For almost any given virus, bacterium, fungus, or parasite, life-threatening clinical disease develops in only a small minority of infected individuals. Solving this infection enigma is important clinically, for diagnosis, prognosis, prevention, and treatment. Some microbes will inevitably remain refractory to, or escape vaccination, or chemotherapy, or both. The solution also is important biologically, because the emergence and evolution of eukaryotes alongside more rapidly evolving prokaryotes, archaea, and viruses posed immunological challenges of an ecological and evolutionary nature. We need to study these challenges in natural, as opposed to experimental, conditions, and also at the molecular and cellular levels. According to the human genetic theory of infectious diseases, inborn variants underlie life-threatening infectious diseases. Here I review the history of the field of human genetics of infectious diseases from the turn of the 19th century to the second half of the 20th century. This paper thus sets the scene, providing the background information required to understand and appreciate the more recently described monogenic forms of resistance or predisposition to specific infections discussed in a second paper in this issue.

scholarly journals Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies

2020 ◽  
Vol 116 (9) ◽  
pp. 1600-1619 ◽  
Author(s):  
Ali J Marian ◽  
Babken Asatryan ◽  
Xander H T Wehrens
Keyword(s):  
Molecular Biology ◽  
Cardiac Arrhythmias ◽  
Genetic Basis ◽  
Structural Changes ◽  
Causal Role ◽  
Ion Currents ◽  
Pathogenic Variants ◽  
Life Threatening ◽  
Shared Genetic

Abstract Cardiac arrhythmias are common, often the first, and sometimes the life-threatening manifestations of hereditary cardiomyopathies. Pathogenic variants in several genes known to cause hereditary cardiac arrhythmias have also been identified in the sporadic cases and small families with cardiomyopathies. These findings suggest a shared genetic aetiology of a subset of hereditary cardiomyopathies and cardiac arrhythmias. The concept of a shared genetic aetiology is in accord with the complex and exquisite interplays that exist between the ion currents and cardiac mechanical function. However, neither the causal role of cardiac arrhythmias genes in cardiomyopathies is well established nor the causal role of cardiomyopathy genes in arrhythmias. On the contrary, secondary changes in ion currents, such as post-translational modifications, are common and contributors to the pathogenesis of arrhythmias in cardiomyopathies through altering biophysical and functional properties of the ion channels. Moreover, structural changes, such as cardiac hypertrophy, dilatation, and fibrosis provide a pro-arrhythmic substrate in hereditary cardiomyopathies. Genetic basis and molecular biology of cardiac arrhythmias in hereditary cardiomyopathies are discussed.

scholarly journals A Cell’s Fate: An Overview of the Molecular Biology and Genetics of Apoptosis

2019 ◽  
Vol 20 (17) ◽  
pp. 4133 ◽  
Author(s):  
Giovanna C. Cavalcante ◽  
Ana Paula Schaan ◽  
Gleyce Fonseca Cabral ◽  
Mayara Natália Santana-da-Silva ◽  
Pablo Pinto ◽  
...  
Keyword(s):  
Cell Death ◽  
Molecular Biology ◽  
Internal Stress ◽  
Current Literature ◽  
Intrinsic Pathway ◽  
Whole Process ◽  
Regulated Cell Death ◽  
Complex Process ◽  
Key Players ◽  
Interactive Networks

Apoptosis is one of the main types of regulated cell death, a complex process that can be triggered by external or internal stimuli, which activate the extrinsic or the intrinsic pathway, respectively. Among various factors involved in apoptosis, several genes and their interactive networks are crucial regulators of the outcomes of each apoptotic phase. Furthermore, mitochondria are key players in determining the way by which cells will react to internal stress stimuli, thus being the main contributor of the intrinsic pathway, in addition to providing energy for the whole process. Other factors that have been reported as important players of this intricate molecular network are miRNAs, which regulate the genes involved in the apoptotic process. Imbalance in any of these mechanisms can lead to the development of several illnesses, hence, an overall understanding of these processes is essential for the comprehension of such situations. Although apoptosis has been widely studied, the current literature lacks an updated and more general overview on this subject. Therefore, here, we review and discuss the mechanisms of apoptosis, highlighting the roles of genes, miRNAs, and mitochondria involved in this type of cell death.

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