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Topic Review
Pharmacogenomics
Pharmacogenomics (PGx) is the knowledge of diverse drug responses and effects in people, based on their genomic profiles.
  • 1.2K
  • 04 Jan 2021
Topic Review
Evolution of TFs and Enhancers
Adaptive immunity relies on the V(D)J DNA recombination of immunoglobulin (Ig) and T cell receptor (TCR) genes, which enables the recognition of highly diverse antigens and the elicitation of antigen-specific immune responses. This process is mediated by recombination-activating gene (Rag) 1 and Rag2 (Rag1/2), whose expression is strictly controlled in a cell type-specific manner; the expression of Rag1/2 genes represents a hallmark of lymphoid lineage commitment. Although Rag genes are known to be evolutionally conserved among jawed vertebrates, how Rag genes are regulated by lineage-specific transcription factors (TFs) and how their regulatory system evolved among vertebrates have not been fully elucidated. Here, we review the current body of knowledge concerning the cis-regulatory elements (CREs) of Rag genes and the evolution of the basic helix-loop-helix TF E protein regulating Rag gene CREs, as well as the evolution of the antagonist of this protein, the Id protein. This may help to understand how the adaptive immune system develops along with the evolution of responsible TFs and enhancers. 
  • 1.2K
  • 09 Jun 2021
Topic Review
Chromosome 15
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
Mutations and Health
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.  By changing a gene's instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition.
  • 1.2K
  • 24 Dec 2020
Topic Review
X-linked Sideroblastic Anemia
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood.
  • 1.2K
  • 24 Dec 2020
Topic Review
Dent Disease
Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time.
  • 1.2K
  • 24 Dec 2020
Topic Review
CTNNB1 Gene
catenin beta 1
  • 1.2K
  • 24 Dec 2020
Topic Review
Farsightedness
Farsightedness, also known as hyperopia, is an eye condition that causes blurry near vision. People who are farsighted have more trouble seeing things that are close up (such as when reading or using a computer) than things that are far away (such as when driving).
  • 1.2K
  • 25 Dec 2020
Topic Review
Familial Hemiplegic Migraine
Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.
  • 1.2K
  • 25 Dec 2020
Topic Review
Juvenile Primary Lateral Sclerosis
Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.
  • 1.2K
  • 23 Dec 2020
Topic Review
Ischemic Stroke Genetics
The etiology of ischemic stroke is multifactorial. Although receiving less emphasis, genetic causes make a significant contribution to ischemic stroke genesis, especially in early-onset stroke. Several stroke classification systems based on genetic information corresponding to various stroke phenotypes were proposed. Twin and family history studies, as well as candidate gene approach, are common methods to discover genetic causes of stroke, however, both have their own limitations. Genome-wide association studies and next generation sequencing are more efficient, promising and increasingly used for daily diagnostics. Some monogenic disorders, despite covering only about 7% of stroke etiology, may cause well-known clinical manifestations that include stroke. Polygenic disorders are more frequent, causing about 38% of all ischemic strokes, and their identification is a rapidly developing field of modern stroke genetics. Current advances in human genetics provide opportunity for personalized prevention of stroke and novel treatment possibilities. Genetic risk scores (GRS) and extended polygenic risk scores (PRS) estimate cumulative contribution of known genetic factors to a specific outcome of stroke. Combining those scores with clinical information and risk factor profiles might result in better primary stroke prevention. Some authors encourage the use of stroke gene panels for stroke risk evaluation and further stroke research. Moreover, new biomarkers for stroke genetic causes and novel targets for gene therapy are on the horizon.
  • 1.2K
  • 14 Jan 2022
Topic Review
Adenylosuccinate Lyase
Adenylosuccinate Lyase (ADSL) is a homotetrameric enzyme exhibiting a dual catalytic role: the conversion of succinylaminoimidazolecarboxamide (SAICA)-ribotide (SAICAR) into AICA-ribotide (AICAR) (de novo purine synthesis pathway) and the formation of AMP from adenylosuccinate in the purine nucleotide cycle. ADSL deficiency is a rare autosomal recessive disorder, first described by Jaeken and Van den Berghe, caused by more than 150 different mutations (most of which missense), in the ADSL gene. In all cases, the mutations lead to an ADSL enzyme that retains some residual activity, possibly because a complete loss of activity is probably lethal in humans. The clinical presentation includes neurologic symptoms, namely intellectual disability, autism spectrum disorder, microcephaly, and seizures. Three different phenotypes have been reported on the basis of the age of onset and the severity of symptoms: the fatal neonatal form, presenting with hypokinesia, intractable seizures, and respiratory failure; the type I form presenting within the first months of life, characterized by severe psychomotor retardation, microcephaly, seizures, and autistic features; and the type II form, presenting within the first years of life, with moderate or slight psychomotor retardation]. Life expectation in ADSL deficiency is variable. The neonatal form may lead to early death, whereas onset in early childhood usually results in a stable course.
  • 1.2K
  • 18 Jul 2023
Topic Review
Cockayne Syndrome
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
  • 1.2K
  • 24 Dec 2020
Topic Review
X-linked Chondrodysplasia Punctata 1
X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage.
  • 1.2K
  • 24 Dec 2020
Topic Review
TP63 Gene
Tumor protein p63: The TP63 gene provides instructions for making a protein called tumor protein p63 (also known simply as p63). 
  • 1.2K
  • 25 Dec 2020
Topic Review
Ataxia Neuropathy Spectrum
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).
  • 1.2K
  • 24 Dec 2020
Topic Review
RNA Oxidation in Neurodegenerative Diseases
Recent studies have shown that RNAs are susceptible to oxidative damage and oxidized RNA is able to break the RNA strand, and affect the protein synthesis, which can lead to cell degradation and cell death. Studies have shown that RNA oxidation is one of the early events in the formation and development of neurodegenerative disorders, including Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis. However, its molecular mechanism, as well as its impact on these diseases, are still unclear. In this article, we review the different types of RNA oxidative damage and the neurodegenerative diseases that are reported to be associated with RNA oxidative damage. In addition, we discuss recent findings on the association between RNA oxidative damage and the development of neurodegenerative diseases, which will have great significance for the development of novel strategies for the prevention and treatment of these diseases.
  • 1.2K
  • 28 Oct 2020
Topic Review
ASPA Gene
aspartoacylase
  • 1.2K
  • 24 Dec 2020
Topic Review
Carpenter Syndrome
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.
  • 1.2K
  • 24 Dec 2020
Topic Review
Prion Disease
Prion disease represents a group of conditions that affect the nervous system in humans and animals.
  • 1.2K
  • 04 Jan 2021
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