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Topic Review
SMN1 Gene
survival of motor neuron 1, telomeric
  • 766
  • 24 Dec 2020
Topic Review
CRISPR/Cas9 as a Mutagenic Factor
The discovery of the CRISPR/Cas9 microbial adaptive immune system has revolutionized the field of genetics, by greatly enhancing the capacity for genome editing. CRISPR/Cas9-based editing starts with DNA breaks (or other lesions) predominantly at target sites and, unfortunately, at off-target genome sites. DNA repair systems differing in accuracy participate in establishing desired genetic changes but also introduce unwanted mutations, that may lead to hereditary, oncological, and other diseases. New approaches to alleviate the risks associated with genome editing include attenuating the off-target activity of editing complex through the use of modified forms of Cas9 nuclease and single guide RNA (sgRNA), improving delivery methods for sgRNA/Cas9 complex, and directing DNA lesions caused by the sgRNA/Cas9 to non-mutagenic repair pathways.
  • 766
  • 26 Jan 2024
Topic Review
KCNJ2 Gene
Potassium voltage-gated channel subfamily J member 2
  • 765
  • 23 Dec 2020
Topic Review
Lamellar Ichthyosis
Lamellar ichthyosis is a condition that mainly affects the skin.
  • 765
  • 23 Dec 2020
Topic Review
Congenital Myasthenic Syndrome
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion.
  • 765
  • 24 Dec 2020
Topic Review
Epigenetics and Cellular Metabolism
Epigenetics refers to the regulatory code that dictates gene expression or not and can be stably inherited in the absence of a constant genomic sequence. The current research content of epigenetics mainly includes DNA methylation and hydroxylmethylation, histone modifications, chromosome remodeling, and non-coding RNA regulation. In the early stage of CRC, DNA methylation status begins to change abnormally, mainly through the hypermethylation of some CpG islands leading to the down-regulation of gene expression and genome-wide hypomethylation, which cause genome instability to participate in tumorigenesis and development.
  • 765
  • 12 Nov 2021
Topic Review
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.
  • 764
  • 23 Dec 2020
Topic Review
Acrocallosal Syndrome
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
  • 764
  • 23 Dec 2020
Topic Review
Bietti Crystalline Dystrophy
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.
  • 764
  • 24 Dec 2020
Topic Review
SDHB Gene
succinate dehydrogenase complex iron sulfur subunit B
  • 764
  • 24 Dec 2020
Topic Review
Novel Splicing Variant in Acylglycerol Kinase
Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK, a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but is also a component of the TIM22 complex in the inner mitochondrial membrane, which mediates the import of a subset of membrane proteins.
  • 764
  • 13 Jan 2022
Topic Review
SIDDT
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.  
  • 763
  • 23 Dec 2020
Topic Review
MT-TV Gene
mitochondrially encoded tRNA valine
  • 763
  • 23 Dec 2020
Topic Review
Arginase Deficiency
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 763
  • 24 Dec 2020
Topic Review
Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing.
  • 763
  • 24 Dec 2020
Topic Review
ENPP1 Gene
Ectonucleotide pyrophosphatase/phosphodiesterase 1: The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). 
  • 763
  • 24 Dec 2020
Topic Review
Familial Pityriasis Rubra Pilaris
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.
  • 763
  • 25 Dec 2020
Topic Review
Preimplantation Genetic Testing for Monogenic Disorders
Preimplantation genetic tests have a broad range of applications, conceptually divisible into two main areas: inherited disorders, where alterations can be found in the parents (PGT-M and PGT-SR), and de novo conditions, i.e., not inherited, as in the case of PGT-A. The objective of PGT-M testing is to avoid transferring embryos affected by a specific monogenic disease. This can only be achieved by selecting embryos that either do not carry the mutation or are healthy carriers (in the case of recessive diseases), as may occur in patients with a positive family or personal history for a monogenic condition. This necessitates a preliminary study tailored to each couple, involving family members. In general, PGT-M can be applied to the diagnosis of all hereditary monogenic diseases for which the responsible gene has been identified, one or two index cases are available, and a diagnostic linkage analysis protocol can be developed. Conversely, it is not indicated in cases of large gene deletions/duplications or de novo triplet expansions since the phasing of the at-risk haplotype is not feasible.
  • 763
  • 27 Nov 2023
Topic Review
SRCAP Gene
Snf2 related CREBBP activator protein
  • 762
  • 22 Dec 2020
Topic Review
GTF2I Gene
General transcription factor IIi
  • 762
  • 22 Dec 2020
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