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Topic Review
XMEN
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. 
  • 2.1K
  • 04 Jan 2021
Topic Review
The Genetic Architecture of SLD
Specific Learning Disorder (SLD) is a multifactorial, neurodevelopmental disorder which may involve persistent difficulties in reading (dyslexia), written expression and/or mathematics. Dyslexia is characterized by difficulties with speed and accuracy of word reading, deficient decoding abilities, and poor spelling. Several studies from different, but complementary, scientific disciplines have investigated possible causal/risk factors for SLD. Biological, neurological, hereditary, cognitive, linguistic-phonological, developmental and environmental factors have been incriminated. Despite worldwide agreement that SLD is highly heritable, its exact biological basis remains elusive.
  • 2.1K
  • 09 Jul 2021
Topic Review
Mitochondrial DNA
Increasing evidence implicates mitochondrial dysfunction in the etiology of Parkinson’s disease (PD). Mitochondrial DNA (mtDNA) mutations represent a possible cause and this mechanism might be shared with the aging process and with other age-related neurodegenerative disorders such as Alzheimer’s disease (AD). We have recently proposed a computerized method for mutated mtDNA characterization able to discriminate between AD and aging. Dealing with mtDNA mutation-based profiling of neurodegenerative disease(s), peripheral blood mtDNA sequences from late-onset PD patients and age-matched controls were analyzed and compared to the revised Cambridge Reference Sequence (rCRS). The chaos game representation (CGR) method, modified to visualize heteroplasmic mutations, was used to display fractal properties of mtDNA sequences and fractal lacunarity analysis was applied to quantitatively characterize PD based on mtDNA mutations. Parameter β, from the hyperbola model function of our lacunarity method, was statistically different between PD and control groups when comparing mtDNA sequence frames corresponding to GenBank np 5713-9713. Our original method, based on CGR and lacunarity analysis, represents a useful tool to analyze mtDNA mutations. Lacunarity parameter β is able to characterize individual mutation profile of mitochondrial genome and could represent a promising index to discriminate between PD and aging.
  • 2.1K
  • 29 Oct 2020
Topic Review
Computer-Aided Drug Discovery for SMA
Spinal muscular atrophy (SMA), one of the leading inherited causes of child mortality, is a rare neuromuscular disease arising from loss-of-function mutations of the survival motor neuron 1 (SMN1) gene, which encodes the SMN protein. When lacking the SMN protein in neurons, patients suffer from muscle weakness and atrophy, and in the severe cases, respiratory failure and death. Several therapeutic approaches show promise with human testing and three medications have been approved by the U.S. Food and Drug Administration (FDA) to date. Despite the shown promise of these approved therapies, there are some crucial limitations, one of the most important being the cost. The FDA-approved drugs are high-priced and are shortlisted among the most expensive treatments in the world. The price is still far beyond affordable and may serve as a burden for patients. The blooming of the biomedical data and advancement of computational approaches have opened new possibilities for SMA therapeutic development. 
  • 2.1K
  • 09 Oct 2021
Topic Review
Tumor Suppressor
A tumor suppressor gene, or anti-oncogene, is a gene that regulates a cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results in a loss or reduction in its function; in combination with other genetic mutations this could allow the cell to grow abnormally. The loss of function for these genes may be even more significant in the development of human cancers, compared to the activation of oncogenes. Tumor suppressor genes can be grouped into the following categories caretaker genes, gatekeeper genes, and more recently landscaper genes. Caretaker genes ensure stability of the genome via DNA repair and subsequently when mutated allow mutations to accumulate. Meanwhile gatekeeper genes directly regulate cell growth by either inhibiting cell cycle progression or inducing apoptosis. Lastly landscaper genes regulate growth by contributing to the surrounding environment, when mutated can cause an environment that promotes unregulated proliferation. The classification schemes are evolving as medical advances are being made from fields including molecular biology, genetics, and epigenetics.
  • 2.1K
  • 25 Oct 2022
Topic Review
LINE1 Retrotransposons
LINE-1 (L1) is a class of autonomous mobile genetic elements that form somatic mosaicisms in various tissues of the organism. The activity of L1 retrotransposons is strictly controlled by many factors in somatic and germ cells at all stages of ontogenesis. Alteration of L1 activity was noted in a number of diseases: in neuropsychiatric and autoimmune diseases, as well as in various forms of cancer.
  • 2.1K
  • 20 Oct 2021
Topic Review
Genomic Aberrations
Multiple Myeloma is a genetically heterogeneous disease, arising and progressing through the appearance and accumulation of a tangle of genomic aberrations. In the last decade, cheap and wide applicable sequencing technologies allowed significant advantages in its biological knowledge. Here author focus on genomic events that drive plasma cell disorders. 
  • 2.1K
  • 21 Dec 2020
Topic Review
C-to-U RNA Editing
The restoration of genetic code by editing mutated genes is a potential method for the treatment of genetic diseases/disorders. Genetic disorders are caused by the point mutations of thymine (T) to cytidine (C) or guanosine (G) to adenine (A), for which gene editing (editing of mutated genes) is a promising therapeutic technique. In C-to-Uridine (U) RNA editing, it converts the base C-to-U in RNA molecules and leads to nonsynonymous changes when occurring in coding regions; for G-to-A mutations, A-to-I editing occurs. Editing of C-to-U is not as physiologically common as that of A-to-I editing.
  • 2.1K
  • 30 Sep 2022
Topic Review
Peripartum Cardiomyopathy
Peripartum cardiomyopathy (PPCM) is a condition in which heart failure and left ventricular systolic dysfunction occur in the last month of pregnancy or within months following delivery.
  • 2.0K
  • 26 Jan 2021
Topic Review
SARS-CoV-2 Genome
An enigmatic localized pneumonia escalated into a worldwide COVID-19 pandemic from Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). This review aims to consolidate the extensive biological minutiae of SARS-CoV-2 which requires decipherment. Having one of the largest RNA viral genomes, the single strand contains the genes ORF1ab, S, E, M, N and ten open reading frames. Highlighting unique features such as stem-loop formation, slippery frameshifting sequences and ribosomal mimicry, SARS-CoV-2 represents a formidable cellular invader. Hijacking the hosts translational engine, it produces two polyprotein repositories (pp1a and pp1ab), armed with self-cleavage capacity for production of sixteen non-structural proteins. Novel glycosylation sites on the spike trimer reveal unique SARS-CoV-2 features for shielding and cellular internalization. Affording complexity for superior fitness and camouflage, SARS-CoV-2 challenges diagnosis and vaccine vigilance.
  • 2.0K
  • 21 Jan 2021
Topic Review
LBSL
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses.
  • 2.0K
  • 04 Jan 2021
Topic Review
Peptide Hormones
Small peptides are important signaling molecules that coordinate comprehensive intercellular communication in numerous aspects of developmental processes in plants.
  • 2.0K
  • 08 Jan 2021
Topic Review
BARD1 and Tumor Development
BARD1 is a very important BRCA1 binding partner and plays a key role in the development of a variety of tumors. Similar to BRCA1, BARD1 has been implicated in the development of breast and gynecological cancers. In addition, BARD1 also plays a role in the development of non-breast and non-gynecological cancers.
  • 2.0K
  • 30 Jul 2020
Topic Review
Gene Disease Database
In bioinformatics, a Gene Disease Database is a systematized collection of data, typically structured to model aspects of reality, in a way to comprehend the underlying mechanisms of complex diseases, by understanding multiple composite interactions between phenotype-genotype relationships and gene-disease mechanisms. Gene Disease Databases integrate human gene-disease associations from various expert curated databases and text mining derived associations including Mendelian, complex and environmental diseases.
  • 2.0K
  • 21 Nov 2022
Topic Review
Neural Crest Cells
The neural crest shows an astonishing multipotency, generating multiple neural derivatives, but also pigment cells, skeletogenic and other cell types. Here w consider how these multipotent cells may give rise to all those diverse cell-types.  
  • 1.9K
  • 27 Dec 2021
Topic Review
47,XYY Syndrome
47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.  
  • 1.9K
  • 23 Dec 2020
Topic Review
X Chromosome
The X chromosome is one of the two sex chromosomes in humans (the other is the Y chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell.
  • 1.9K
  • 24 Dec 2020
Topic Review
Chromosome 19
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 19, one copy inherited from each parent, form one of the pairs.
  • 1.9K
  • 24 Dec 2020
Topic Review
16p12.2 Microdeletion
16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.
  • 1.9K
  • 23 Dec 2020
Topic Review
MEGDEL Syndrome
MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L).
  • 1.9K
  • 23 Dec 2020
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