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Topic Review
X-linked Myotubular Myopathy
X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.  
  • 805
  • 24 Dec 2020
Topic Review
Deafness and Myopia Syndrome
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision.
  • 805
  • 24 Dec 2020
Topic Review
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • 805
  • 24 Dec 2020
Topic Review
F12 Gene
Coagulation factor XII
  • 805
  • 24 Dec 2020
Topic Review
POLR3B Gene
RNA polymerase III subunit B
  • 805
  • 25 Dec 2020
Topic Review
ANK2 Gene
ankyrin 2. The ANK2 gene provides instructions for making a protein called ankyrin-B. 
  • 804
  • 24 Dec 2020
Topic Review
Ataxia-pancytopenia Syndrome
Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.
  • 804
  • 24 Dec 2020
Topic Review
AKT3 Gene
AKT serine/threonine kinase 3
  • 804
  • 24 Dec 2020
Topic Review
FGF8 Gene
Fibroblast growth factor 8: The FGF8 gene provides instructions for making a protein called fibroblast growth factor 8 (FGF8). 
  • 804
  • 25 Dec 2020
Topic Review
VACTERL Association
VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
  • 803
  • 23 Dec 2020
Topic Review
SYNE1 Gene
Spectrin repeat containing nuclear envelope protein 1: The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain.
  • 803
  • 24 Dec 2020
Topic Review
Ophthalmo-Acromelic Syndrome
Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).
  • 803
  • 24 Dec 2020
Topic Review
Economically Relevant Traits Related Candidate Genes in Caprine
Despite their pivotal position as relevant sources for high-quality proteins in particularly hard environmental contexts, the domestic goat has not benefited from the advances made in genomics compared to other livestock species. Genetic analysis based on the study of candidate genes is considered an appropriate approach to elucidate the physiological mechanisms involved in the regulation of the expression of functional traits. This is especially relevant when such functional traits are linked to economic interest. The knowledge of candidate genes, their location on the goat genetic map and the specific phenotypic outcomes that may arise due to the regulation of their expression act as a catalyzer for the efficiency and accuracy of goat-breeding policies, which in turn translates into a greater competitiveness and sustainable profit for goats worldwide. 
  • 803
  • 19 Apr 2022
Topic Review
Lysosomal Storage Disorders Linked to Impaired Autophagy
Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human pathologies with different etiologies known as Lysosomal Storage Disorders (LSDs). These disorders can result from deficiencies in primary lysosomal enzymes, dysfunction of lysosomal enzyme activators, alterations in modifiers that impact lysosomal function, or changes in membrane-associated proteins, among other factors. 
  • 803
  • 10 Jan 2024
Topic Review
DSG4 Gene
Desmoglein 4: The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). 
  • 802
  • 24 Dec 2020
Topic Review
NOTCH2 Gene
notch 2
  • 802
  • 24 Dec 2020
Topic Review
Deoxyguanosine Kinase Deficiency
Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver and brain.
  • 802
  • 24 Dec 2020
Topic Review
PIK3C3 Inhibition
Autophagy promotes resistance to CRC-therapy by specifically promoting GSK-3β/Wnt/β-catenin signaling to promote CSC survival, and 36-077, a PIK3C3/VPS34 inhibitor, helps promote efficacy of CRC therapy.
  • 802
  • 03 Jun 2021
Topic Review
Glycogen Storage Disease Type V
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 801
  • 23 Dec 2020
Topic Review
Triple A Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.
  • 801
  • 23 Dec 2020
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