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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
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
Ras Subfamily
Ras is a family of related proteins which is expressed in all animal cell lineages and organs. All Ras protein family members belong to a class of protein called small GTPase, and are involved in transmitting signals within cells (cellular signal transduction). Ras is the prototypical member of the Ras superfamily of proteins, which are all related in 3D structure and regulate diverse cell behaviours. When Ras is 'switched on' by incoming signals, it subsequently switches on other proteins, which ultimately turn on genes involved in cell growth, differentiation and survival. Mutations in ras genes can lead to the production of permanently activated Ras proteins. As a result, this can cause unintended and overactive signaling inside the cell, even in the absence of incoming signals. Because these signals result in cell growth and division, overactive Ras signaling can ultimately lead to cancer. The 3 Ras genes in humans (HRas, KRas, and NRas) are the most common oncogenes in human cancer; mutations that permanently activate Ras are found in 20% to 25% of all human tumors and up to 90% in certain types of cancer (e.g., pancreatic cancer). For this reason, Ras inhibitors are being studied as a treatment for cancer and other diseases with Ras overexpression.
  • 1.6K
  • 04 Nov 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
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
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
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. 
  • 1.5K
  • 02 Jun 2021
Topic Review
BRCA2
The tumor suppressor BRCA2 functions as a central caretaker of genome stability, and individuals who carry BRCA2 mutations are predisposed to breast, ovarian, and other cancers.
  • 1.5K
  • 28 Sep 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.
  • 1.5K
  • 15 Nov 2022
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. 
  • 1.5K
  • 02 Sep 2021
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).
  • 1.5K
  • 04 Jan 2021
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.
  • 1.5K
  • 24 Dec 2020
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
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.
  • 1.5K
  • 02 Aug 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. 
  • 1.5K
  • 09 Dec 2022
Topic Review
Gigantea in Flower Development
ANTEA (GI) is a gene involved in multiple biological functions, which have been analysed and are partially conserved in a series of mono- and dicotyledonous plant species. The identified biological functions include control over the circadian rhythm, light signalling, cold tolerance, hormone signalling and photoperiodic flowering. The latter function is a central role of GI, as it involves a multitude of pathways, both dependent and independent of the gene CONSTANS(CO), as well as on the basis of interaction with miRNA. The complexity of the gene function of GI increases due to the existence of paralogs showing changes in genome structure as well as incidences of sub- and neofunctionalization. We present an updated report of the biological function of GI, integrating late insights into its role in floral initiation, flower development and volatile flower production.
  • 1.5K
  • 02 Nov 2020
Topic Review
Centromere Flexibility
Centromeres are the complex structures responsible for the proper segregation of chromosomes during cell division. Structural or functional alterations of the centromere cause aneuploidies and other chromosomal aberrations that can induce cell death with consequences on health and survival of the organism as a whole. Because of their essential function in the cell, centromeres have evolved high flexibility and mechanisms of tolerance to preserve their function following stress, whether it is originating from within or outside the cell.Despite the differences in DNA sequences, protein composition and centromere size, all of these diverse centromere structures promote efficient chromosome segregation, balancing genome stability and adaptability, and ensuring faithful genome inheritance at each cellular generation.
  • 1.5K
  • 03 Aug 2020
Topic Review
Breast Cancer Subtypes
The purpose of this study was to classify breast cancer subtypes by using deep neural networks based on multi-omics data from TCGA. The classification results show that, by using the proposed model, integrating multi-omics datasets can improve the performance as compared to using single omics data for classifying breast cancer subtypes.
  • 1.5K
  • 09 Feb 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.
  • 1.5K
  • 21 Dec 2020
Topic Review
COL1A1 Gene
collagen type I alpha 1 chain
  • 1.5K
  • 24 Dec 2020
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