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Topic Review
EXOSC3 Gene
Exosome component 3: The EXOSC3 gene provides instructions for making a protein known as exosome component 3. 
  • 764
  • 24 Dec 2020
Topic Review
Optic Atrophy Type 1
Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.
  • 763
  • 24 Dec 2020
Topic Review
BTD Gene
biotinidase
  • 763
  • 24 Dec 2020
Topic Review
CLN5 Disease
CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
  • 763
  • 07 Mar 2021
Topic Review
Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.
  • 763
  • 25 Dec 2020
Topic Review
KDM6A Gene
Lysine demethylase 6A
  • 762
  • 23 Dec 2020
Topic Review
Myoclonic Epilepsy with Ragged-Red Fibers
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
  • 762
  • 23 Dec 2020
Topic Review
Langer Mesomelic Dysplasia
Langer mesomelic dysplasia is a disorder of bone growth.
  • 762
  • 23 Dec 2020
Topic Review
NYX Gene
nyctalopin
  • 762
  • 24 Dec 2020
Topic Review
FGF10 Gene
Fibroblast growth factor 10: The FGF10 gene provides instructions for making a protein called fibroblast growth factor 10 (FGF10). 
  • 762
  • 25 Dec 2020
Topic Review
TFAP2A Gene
Transcription factor AP-2 alpha: The TFAP2A gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). 
  • 762
  • 25 Dec 2020
Topic Review
Next-Generation Sequencing in Bone Genetic Diseases
The development of next-generation sequencing (NGS) has dramatically increased the speed and volume of genetic analysis. Furthermore, the range of applications of NGS is rapidly expanding to include genome, epigenome (such as DNA methylation), metagenome, and transcriptome analyses (such as RNA sequencing and single-cell RNA sequencing). NGS enables genetic research by offering various sequencing methods as well as combinations of methods. Bone tissue is the most important unit supporting the body and is a reservoir of calcium and phosphate ions, which are important for physical activity.
  • 762
  • 11 Sep 2023
Topic Review
6q24-related Transient Neonatal Diabetes Mellitus
6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.
  • 761
  • 23 Dec 2020
Topic Review
ELOVL2-Based Epigenetic Clock for Forensic Age Prediction
The prediction of chronological age from methylation-based biomarkers represents one of the most promising applications in the field of forensic sciences. Age-prediction models developed are not easily applicable for forensic caseworkers. Among the several attempts to pursue this objective, the formulation of single-locus models might represent a good strategy.
  • 761
  • 09 Feb 2023
Topic Review
Nucleophosmin Isoform 1
NPM1 (nucleophosmin isoform 1) is a nucleolar and multifunctional protein. NPM1 is involved in ribosome assembly as ribonuclease, associated with centrosome duplication, and controls cellular apoptotic response by inhibiting ARF (alternative reading frame). In some cancers, mutant forms of NPM1 including the one fused to ALK, anaplastic lymphoma receptor tyrosine kinase, and NPM1c+ (NPM1 cytoplasmic positive) are known.  Moreover, in this study, NPM1 has been identified as a novel factor interacting with a CDK inhibitor p27Kip1. Increased NPM1 expression in cancer cells suppresses p27 function and promotes cell proliferation of cancer cells in vitro and in vivo. 
  • 760
  • 05 Nov 2020
Topic Review
UBA1 Gene
Ubiquitin like modifier activating enzyme 1.
  • 760
  • 23 Dec 2020
Topic Review
3-methylglutaconyl-CoA Hydratase Deficiency
3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain.
  • 760
  • 23 Dec 2020
Topic Review
Eosinophil Peroxidase Deficiency
Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response.
  • 760
  • 25 Dec 2020
Topic Review
Angiotensin-Converting Enzyme 2 (ACE2)
Angiotensin-converting enzyme 2 (ACE2) is a transmembrane glycoprotein discovered in the year 2000 [1,2]. ACE2 gene is located on the X chromosome (cytogenetic location: Xp22.2) and consists of 18 exons that encode for protein of 805 amino acids. ACE2 is a type 1 integral membrane glycoprotein with two domains, the amino-terminal catalytic domain and carboxy-terminal transmembrane domain. The active domain of ACE2 is exposed to the extracellular surface, facilitating the metabolism of circulating peptides. ACE2 is constitutively expressed by epithelial cells of the lungs—more precisely, on the surface of type I and type II alveolar epithelial cells . ACE2 is also expressed in the vascular system—endothelial cells, migratory angiogenic cells, and vascular smooth muscle cells. In the heart, ACE2 is expressed in the cardiomyocytes, cardiac fibroblasts, coronary vascular endothelium and epicardial adipose tissue. In the kidneys, ACE2 was detected in glomerular endothelial cells, podocytes and proximal tubule epithelial cells. ACE2 is also expressed and functional in the liver, enterocytes of the intestines, and the central nervous system . ACE2 is a component of the renin—angiotensin—aldosterone system (RAAS), a hormone system important in the regulation of blood pressure, fluid and electrolyte balance and the regulation of the systemic circulation . Abnormal activation of the RAAS has been associated with the pathogenesis of hypertension, heart failure and renal diseases. Its involvement in the inflammation pathogenesis is also well known . 
  • 760
  • 19 Jul 2021
Topic Review
Mitochondrial Genomes of Bivalve Mollusks
Doubly uniparental inheritance (DUI) of mitochondrial DNA (mtDNA) in bivalve mollusks is one of the most notable departures from the paradigm of strict maternal inheritance of mtDNA among metazoans.
  • 760
  • 23 Aug 2021
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