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Topic Review
Mitochondrial Complex I Deficiency
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.
  • 711
  • 23 Dec 2020
Topic Review
LRRK2 Gene
Leucine rich repeat kinase 2
  • 710
  • 23 Dec 2020
Topic Review
SDHAF2 Gene
succinate dehydrogenase complex assembly factor 2
  • 709
  • 24 Dec 2020
Topic Review
PDGFRA-Associated Chronic Eosinophilic Leukemia
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.
  • 709
  • 24 Dec 2020
Topic Review
Neurofibromatosis Type 2
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system.
  • 709
  • 23 Dec 2020
Topic Review
NLRP1 Gene
NLR family pyrin domain containing 1
  • 708
  • 23 Dec 2020
Topic Review
COL8A2 Gene
collagen type VIII alpha 2 chain
  • 708
  • 24 Dec 2020
Topic Review
Generalized Arterial Calcification of Infancy
Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life.
  • 707
  • 23 Dec 2020
Topic Review
Inclusion Body Myopathy 2
Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.
  • 707
  • 23 Dec 2020
Topic Review
DARS1 Gene
Aspartyl-tRNA Synthetase: The DARS1 gene provides instructions for making an enzyme called aspartyl-tRNA synthetase. 
  • 707
  • 23 Dec 2020
Topic Review
CEP290 Gene
centrosomal protein 290
  • 707
  • 24 Dec 2020
Topic Review
NSD1 Gene
nuclear receptor binding SET domain protein 1
  • 707
  • 24 Dec 2020
Topic Review
Features and Functions of Alternative Exon Splicing Events
Manipulation using alternative exon splicing (AES), alternative transcription start (ATS), and alternative polyadenylation (APA) sites are key to transcript diversity underlying health and disease. All three are pervasive in organisms, present in at least 50% of human protein-coding genes. These RNA variants have been shown to be highly specific, both in tissue type and stage, with demonstrated importance to cell proliferation, differentiation and the transition from fetal to adult cells. While alternative exon splicing has a limited effect on protein identity, its ubiquity highlights the importance of these minor alterations, which can alter other features such as localization.
  • 707
  • 17 Nov 2023
Topic Review
Non-Canonical RNAi in Mucorales Virulence
Mortality rates of mucormycosis can reach up to 90%, due to the mucoralean antifungal drug resistance and the lack of effective therapies. Non-canonical RNAi pathway (NCRIP) regulates the expression of mRNAs by degrading them in a specific manner. Its mechanism binds dsRNA but only cuts ssRNA. NCRIP exhibits a diversity of functional roles. It represses the epimutational pathway and the lack of NCRIP increases the generation of drug resistant strains. NCRIP also regulates the control of retrotransposons expression, playing an essential role in genome stability. 
  • 707
  • 29 Jun 2021
Topic Review
Leydig Cell Hypoplasia
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty.
  • 707
  • 24 Dec 2020
Topic Review
Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system).
  • 707
  • 24 Dec 2020
Topic Review
MTOR Gene
mechanistic target of rapamycin kinase
  • 706
  • 23 Dec 2020
Topic Review
Hereditary Antithrombin Deficiency
Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT).
  • 706
  • 23 Dec 2020
Topic Review
ITGB3 Gene
Integrin subunit beta 3
  • 706
  • 23 Dec 2020
Topic Review
ZIC2 Gene
Zic family member 2
  • 706
  • 24 Dec 2020
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