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Topic Review
Piebaldism
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair.
  • 1.3K
  • 21 Feb 2021
Topic Review
TNXB Gene
Tenascin XB: The TNXB gene provides instructions for making a protein called tenascin-X.
  • 1.3K
  • 25 Dec 2020
Topic Review
Dandy-Walker Malformation
Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.
  • 1.3K
  • 24 Dec 2020
Topic Review
Pharmacogenomic Biomarkers in Psychiatry
Pharmacogenomic biomarkers are potential individual genetic variations that can affect drug response influencing both pharmacokinetic parameters by causing variable activity of the systems responsible for the absorption, distribution, metabolism, and excretion of the drug and pharmacodynamic parameters like the mechanisms of action of the drug. Here, the term "pharmacogenomic biomarkers in psychiatry" means those related to a variety of psychiatric disorders, such as depression, ADHD, narcolepsy, schizophrenia, bipolar disorder, and epilepsy. 
  • 1.3K
  • 10 Feb 2021
Topic Review
HBA2 Gene
Hemoglobin subunit alpha 2
  • 1.3K
  • 22 Dec 2020
Topic Review
Genetic Therapy for Spina Bifida
Spina bifida (SB) is the most common congenital defect of the central nervous system. Despite family history being a risk factor for SB development, recurrence patterns are not attributed to a single genetic locus. Instead, SB is a complex trait caused by a combination of variants at multiple loci and involving multiple genes.
  • 1.3K
  • 24 Jun 2022
Topic Review
CRISPR/Cas Derivatives
The field of genome editing started with the discovery of meganucleases (e.g. the LAGLIDADG family of homing endonucleases) in yeast. After the discovery of transcription activator-like effector nucleases and zinc finger nucleases, the recently discovered CRISPR/Cas system has opened a new window of applications in the field of gene editing. Here, we review different Cas proteins and their corresponding features including advantages and disadvantages and we provide an overview of the different dCas derivatives. These dCas derivatives consist of an endonuclease-deficient Cas9 which can be fused to different effector domains to perform distinct in vitro applications such as tracking, transcriptional activation and repression, as well as base editing. Finally, we review the in vivo applications of these dCas derivatives and discuss their potential to perform gene activation and repression in vivo, as well as their potential future use in human therapy.
  • 1.3K
  • 29 Oct 2020
Topic Review
JAK2 Gene
Janus kinase 2
  • 1.3K
  • 04 Jan 2021
Topic Review
ADNFLE
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.
  • 1.3K
  • 04 Jan 2021
Topic Review
Genetics of Impulsivity
In psychology, impulsivity (or impulsiveness) is a tendency to act on a whim, displaying behavior characterized by little or no forethought, reflection, or consideration of the consequences. Impulsive actions are typically "poorly conceived, prematurely expressed, unduly risky, or inappropriate to the situation that often result in undesirable consequences," which imperil long-term goals and strategies for success. Impulsivity can be classified as a multifactorial construct. A functional variety of impulsivity has also been suggested, which involves action without much forethought in appropriate situations that can and does result in desirable consequences. "When such actions have positive outcomes, they tend not to be seen as signs of impulsivity, but as indicators of boldness, quickness, spontaneity, courageousness, or unconventionality" Thus, the construct of impulsivity includes at least two independent components: first, acting without an appropriate amount of deliberation, which may or may not be functional; and second, choosing short-term gains over long-term ones. Impulsivity is both a facet of personality and a major component of various disorders, including ADHD, substance use disorders, bipolar disorder, antisocial personality disorder, and borderline personality disorder. Abnormal patterns of impulsivity have also been noted instances of acquired brain injury and neurodegenerative diseases. Neurobiological findings suggest that there are specific brain regions involved in impulsive behavior, although different brain networks may contribute to different manifestations of impulsivity, and that genetics may play a role. Many actions contain both impulsive and compulsive features, but impulsivity and compulsivity are functionally distinct. Impulsivity and compulsivity are interrelated in that each exhibits a tendency to act prematurely or without considered thought and often include negative outcomes. Compulsivity may be on a continuum with compulsivity on one end and impulsivity on the other, but research has been contradictory on this point. Compulsivity occurs in response to a perceived risk or threat, impulsivity occurs in response to a perceived immediate gain or benefit, and, whereas compulsivity involves repetitive actions, impulsivity involves unplanned reactions. Impulsivity is a common feature of the conditions of gambling and alcohol addiction. Research has shown that individuals with either of these addictions discount delayed money at higher rates than those without, and that the presence of gambling and alcohol abuse lead to additive effects on discounting.
  • 1.3K
  • 15 Nov 2022
Topic Review
CARASIL
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.
  • 1.3K
  • 04 Jan 2021
Topic Review
Repetitive Elements in Humans
Repetitive DNA in humans is still widely considered to be meaningless, and variations within this part of the genome are generally considered to be harmless to the carrier. In contrast, for euchromatic variation, one becomes more careful in classifying inter-individual differences as meaningless and rather tends to see them as possible influencers of the so-called ‘genetic background’, being able to at least potentially influence disease susceptibilities. Here, the known ‘bad boys’ among repetitive DNAs are reviewed. Variable numbers of tandem repeats (VNTRs = micro- and minisatellites), small-scale repetitive elements (SSREs) and even chromosomal heteromorphisms (CHs) may therefore have direct or indirect influences on human diseases and susceptibilities. Summarizing this specific aspect here for the first time should contribute to stimulating more research on human repetitive DNA. It should also become clear that these kinds of studies must be done at all available levels of resolution, i.e., from the base pair to chromosomal level and, importantly, the epigenetic level, as well.
  • 1.3K
  • 03 Mar 2021
Topic Review
TCHH Gene
Trichohyalin: The TCHH gene provides instructions for making a protein called trichohyalin. This protein is primarily found in hair follicles, which are specialized structures in the skin where hair growth occurs.
  • 1.2K
  • 24 Dec 2020
Topic Review
Alzheimer Disease
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.
  • 1.2K
  • 24 Dec 2020
Topic Review
PAX3 Gene
paired box 3
  • 1.2K
  • 25 Dec 2020
Topic Review
APC Gene
APC, WNT signaling pathway regulator
  • 1.2K
  • 24 Dec 2020
Topic Review
CA12 Gene
carbonic anhydrase 12
  • 1.2K
  • 24 Dec 2020
Topic Review
Bowen-Conradi Syndrome
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.
  • 1.2K
  • 24 Dec 2020
Topic Review
Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.
  • 1.2K
  • 24 Dec 2020
Topic Review
ADAR-Mediated Site-Specific RNA Editing in Immune-Related Disease
ADAR (Adenosine Deaminases Acting on RNA) proteins are a group of enzymes that play a vital role in RNA editing by converting adenosine to inosine in RNAs. This process is a frequent post-transcriptional event observed in metazoan transcripts. Recent studies indicate widespread dysregulation of ADAR-mediated RNA editing across many immune-related diseases, such as human cancer. 
  • 1.2K
  • 09 Jan 2024
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