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Topic Review
Fusion Genes and RNAs
Fusion RNAs are a hallmark of some cancers. They result either from chromosomal rearrangements or from splicing mechanisms that are non-chromosomal rearrangements.
  • 1.6K
  • 19 Apr 2021
Topic Review
Type 2 Diabetes
Type 2 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, the body stops using and making insulin properly. Insulin is a hormone produced in the pancreas that helps regulate blood sugar levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. When blood sugar levels are high (such as after a meal), the pancreas releases insulin to move the excess glucose into cells, which reduces the amount of glucose in the blood.
  • 1.6K
  • 07 Apr 2023
Topic Review
Immune Mediated Diseases
Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by environmental and genetic factors. Associations between genetic loci and susceptibility to these diseases have been widely studied, and hundreds of risk variants have emerged during the last two decades, with researchers observing a shared genetic pattern among them.
  • 1.6K
  • 22 Dec 2020
Topic Review
Initiation of DNA Replication
DNA replication is fundamental to the maintenance and diversification of life. In eukaryotic cells, DNA replication initiates from multiple origins deployed across the whole genome, implying the need for a tight orchestration of their firing. Complex multi-step regulatory mechanisms coordinate such efforts and ensure that the genome is fully duplicated. Notably, a large excess of DNA replication origins are present throughout the human genome, with only 5–10% of them firing throughout S phase. Based on their usage, DNA replication origins are classified into the following three categories: (1) constitutive origins that invariably fire in all cells of a population, (2) flexible origins (the majority) that only fire in some cells of a population, and (3) dormant origins that are kept silent during normal conditions but can become activated upon DNA damage when a replication fork stalls in the vicinity.
  • 1.6K
  • 04 Jul 2023
Topic Review
ALS-Specific GWAS Challenges
Amyotrophic Lateral Sclerosis (ALS) is the most common late-onset motor neuron disorder, but our current knowledge of the molecular mechanisms and pathways underlying this disease remains elusive. Genome-Wide Association Studies (GWAS) aim to identify Single Nucleotide Polymorphisms (SNPs) and other types of genetic variation that are more frequent in patients than in people without the disease, using a variety of statistical tests. Despite the rapid recent technological advances and great efforts in the GWAS field that have led to the genomic profiling of large ALS cohorts, the identified associations have been able to explain only a very small fraction of the ALS heritability and aetiology. Here, we outline ALS-Specific GWAS Challenges, explaining the limitations of traditional GWAS analyses, considering known features of the ALS genetic architecture and hypotheses about ALS pathology (e.g., multilocus interactions, rare variations with low effect size). Future advances in the genomic and machine learning fields may bring about a better understanding of ALS genetic architecture and enable improved personalized approaches to this and other devastating and complex diseases.
  • 1.6K
  • 01 Dec 2021
Topic Review
Ataxia Telangiectasia Mutated
ATM is among of the most critical initiators and coordinators of the DNA-damage response. ATM canonical and non-canonical signaling pathways involve hundreds of downstream targets that control many important cellular processes such as DNA damage repair, apoptosis, cell cycle arrest, metabolism, proliferation, oxidative sensing, among others. Of note, ATM is often considered a major tumor suppressor because of its ability to induce apoptosis and cell cycle arrest. However, in some advanced stage tumor cells, ATM signaling is increased and confers remarkable advantages for cancer cell survival, resistance to radiation and chemotherapy, biosynthesis, proliferation, and metastasis. 
  • 1.6K
  • 02 Jun 2021
Topic Review
19p13.13 Deletion Syndrome
19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13
  • 1.6K
  • 23 Dec 2020
Topic Review
Chromosome 22
Humans normally have 46 chromosomes (23 pairs) in each cell. Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs.
  • 1.6K
  • 04 Jan 2021
Topic Review
Conservation in South African Indigenous Goat Ecotypes
Goats were amongst the first livestock to be domesticated more than 10,000 years ago for their meat, milk, skin, and fiber. They were introduced to Southern Africa by migrating nations from Central Africa to the south. Due to local adaptation to the different agro-ecological zones and selection, indigenous goats are identified as ecotypes within the indigenous veld goat breed. Their ability to thrive in a resource-limited production system and in challenging environmental conditions makes them valuable animal resources for small-scale and emerging farmers. They play important roles in household agriculture and cultural activities as well as in poverty alleviation. 
  • 1.6K
  • 09 Dec 2022
Topic Review
Partington Syndrome
Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.
  • 1.6K
  • 17 Jun 2021
Topic Review
Epigenetics and Myotonic Dystrophy Type 1
Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in the manifestations and progression of the disease. The largest expanded alleles are generally associated with the earliest and most severe clinical form. However, CTG repeat length alone is not sufficient to predict disease severity and progression, suggesting the involvement of other factors. Several data support the role of epigenetic alterations in clinical and genetic variability observed in DM1.
  • 1.6K
  • 07 Apr 2022
Topic Review
Methyltransferase SETDB1
SET domain bifurcated 1 (SETDB1) is a histone H3 lysine 9 (H3K9) methyltransferase that exerts important effects on epigenetic gene regulation. SETDB1 complexes (SETDB1-KRAB-KAP1, SETDB1-DNMT3A, SETDB1-PML, SETDB1-ATF7IP-MBD1) play crucial roles in the processes of histone methylation, transcriptional suppression and chromatin remodelling.
  • 1.6K
  • 02 Aug 2021
Topic Review
Prenatal Detection of Uniparental Disomies
Prenatal detection of uniparental disomy (UPD) is a methodological challenge, and a positive testing result requires comprehensive considerations on the clinical consequences as well as ethical issues.
  • 1.6K
  • 21 Dec 2020
Topic Review
R-Loops and Its Chro-Mates
R-loops have been associated with both physiological and pathological functions that are conserved across species. R-loops are a source of replication stress and genome instability, as seen in neurodegenerative disorders and cancer. In response, cells have evolved pathways to prevent R-loop accumulation as well as to resolve them. This review covers various mechanisms precluding R‐loop accumulation and highlights the role of Chro-Mates (chromatin modifiers and remodelers) in facilitating timely R‐loop resolution. We also discuss the enigmatic role of RNA:DNA hybrids in facilitating DNA repair, epigenetic landscape and the potential role of replication fork preservation pathways, active fork stability and stalled fork protection pathways, in avoiding replication-transcription conflicts. 
  • 1.6K
  • 02 Sep 2021
Topic Review
Relationship of Human Endogenous Retroviruses and Human Cancers
Human endogenous retroviruses (HERVs), once external pathogens, now occupy more than 8% of the human genome and represent the merge of genomic and external factors leading to the development of cancers. Certain HERVs have perfectly assimilated into the cellular environment preventing oncogenesis, while others maintain their pathogenic potential and remain undercover until a time of cellular dysregulation. In particular, HERV genes such as gag, env, pol, np9, and rec have been discovered to carry central roles in immune regulation, checkpoint blockade, cell differentiation, cell fusion, proliferation, metastasis, and cell transformation in tumor environments. In addition, HERV long terminal repeat (LTR) regions have been shown to be involved in transcriptional regulation, creation of fusion proteins, expression of long non-coding RNAs (lncRNAs), and promotion of genome instability through recombination influencing oncogenesis.
  • 1.6K
  • 27 Mar 2023
Topic Review
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
  • 1.6K
  • 24 Dec 2020
Topic Review
HSAN IE
Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. It is characterized by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy).
  • 1.6K
  • 04 Jan 2021
Topic Review
Polony Sequencing
Polony sequencing is an inexpensive but highly accurate multiplex sequencing technique that can be used to “read” millions of immobilized DNA sequences in parallel. This technique was first developed by Dr. George Church's group at Harvard Medical School. Unlike other sequencing techniques, Polony sequencing technology is an open platform with freely downloadable, open source software and protocols. Also, the hardware of this technique can be easily set up with a commonly available epifluorescence microscopy and a computer-controlled flowcell/fluidics system. Polony sequencing is generally performed on paired-end tags library that each molecule of DNA template is of 135 bp in length with two 17–18 bp paired genomic tags separated and flanked by common sequences. The current read length of this technique is 26 bases per amplicon and 13 bases per tag, leaving a gap of 4–5 bases in each tag.
  • 1.6K
  • 15 Nov 2022
Topic Review
Vitamin D-dependent Rickets
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets).
  • 1.5K
  • 23 Dec 2020
Topic Review
Mitochondrial DNA and DOHaD
Mitochondrial dysfunction is known to contribute to mitochondrial diseases, as well as to a variety of aging-based pathologies. Mitochondria have their own genomes (mitochondrial DNA (mtDNA)) and the abnormalities, such as point mutations, deletions, and copy number variations, are involved in mitochondrial dysfunction. In recent years, several epidemiological studies and animal experiments have supported the Developmental Origin of Health and Disease (DOHaD) theory, which states that the environment during fetal life influences the predisposition to disease and the risk of morbidity in adulthood. Mitochondria play a central role in energy production, as well as in various cellular functions, such as apoptosis, lipid metabolism, and calcium metabolism.
  • 1.5K
  • 19 Jul 2021
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