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Topic Review
Arts Syndrome
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
  • 1.3K
  • 24 Dec 2020
Topic Review
Bloom Syndrome
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
  • 1.3K
  • 24 Dec 2020
Topic Review
FMO3 Gene
Flavin containing monooxygenase 3
  • 1.3K
  • 25 Dec 2020
Topic Review
ALK Gene
ALK receptor tyrosine kinase. The ALK gene provides instructions for making a protein called ALK receptor tyrosine kinase, which is part of a family of proteins called receptor tyrosine kinases (RTKs). 
  • 1.3K
  • 24 Dec 2020
Topic Review
Role of Glycosylation in Thrombopoiesis and Platelet Clearance
Protein glycosylation, including sialylation, involves complex and frequent post-translational modifications, which play a critical role in different biological processes. The conjugation of carbohydrate residues to specific molecules and receptors is critical for normal hematopoiesis, as it favors the proliferation and clearance of hematopoietic precursors. Through this mechanism, the circulating platelet count is controlled by the appropriate platelet production by megakaryocytes, and the kinetics of platelet clearance.
  • 1.3K
  • 16 Mar 2023
Topic Review
Miller-Dieker Syndrome
Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly.
  • 1.3K
  • 23 Dec 2020
Topic Review
PIGA Gene
phosphatidylinositol glycan anchor biosynthesis class A
  • 1.3K
  • 25 Dec 2020
Topic Review
RNA Interference in Fungi
RNA interference (RNAi) was discovered at the end of last millennium, changing the way scientists understood regulation of gene expression. Within the following two decades, a variety of different RNAi mechanisms were found in eukaryotes, reflecting the evolutive diversity that RNAi entails. The essential silencing mechanism consists of an RNase III enzyme called Dicer that cleaves double-stranded RNA (dsRNA) generating small interfering RNAs (siRNAs), a hallmark of RNAi. These siRNAs are loaded into the RNA-induced silencing complex (RISC) triggering the cleavage of complementary messenger RNAs by the Argonaute protein, the main component of the complex. Consequently, the expression of target genes is silenced. This mechanism has been thoroughly studied in fungi due to their proximity to the animal phylum and the conservation of the RNAi mechanism from lower to higher eukaryotes. However, the role and even the presence of RNAi differ across the fungal kingdom, as it has evolved adapting to the particularities and needs of each species. Fungi have exploited RNAi to regulate a variety of cell activities as different as defense against exogenous and potentially harmful DNA, genome integrity, development, drug tolerance, or virulence. This pathway has offered versatility to fungi through evolution, favoring the enormous diversity this kingdom comprises. 
  • 1.3K
  • 11 Oct 2021
Topic Review
Assisted Reproductive Techniques (ART)
To increase the efficiency of assisted reproductive techniques (ART), molecular studies have been performed to identify the best predictive biomarkers for selecting the most suitable germ cells for fertilization and the best embryo for intra-uterine transfer.
  • 1.3K
  • 16 Aug 2021
Topic Review
Autosomal Recessive Congenital Methemoglobinemia
Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).
  • 1.3K
  • 24 Dec 2020
Topic Review
Histidine-Based Carriers
During the past two decades, there have been significant advances in nucleic acid carriers modified by histidines or histidine-rich domains.  There are several properties of histidines, primarily emanating from their buffering of acidic endosomes, which augment transfection.  These roles from protonated histidines include osmotic swelling with lysis of endosomes, unpacking of the carrier complex, and release of the nucleic acids to enable the carrier to interact with the endosomal membrane.  Histidines or histidine-rich peptides have been incorporated into polymers, conjugated to lipids, phages, and mesoporous silica particles, as well as formed shields around nanoparticles.  These carriers have demonstrated significant potential to import into the cytosol different forms of nucleic acids including plasmids, siRNA, and mRNA. 
  • 1.3K
  • 08 Nov 2020
Topic Review
Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."
  • 1.3K
  • 25 Dec 2020
Topic Review
MSTN Gene
Myostatin
  • 1.3K
  • 04 Jan 2021
Topic Review
Waardenburg Syndrome
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
  • 1.3K
  • 23 Dec 2020
Topic Review
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.
  • 1.3K
  • 31 Dec 2020
Topic Review
MN1 C-Terminal Truncation Syndrome
MN1 C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.
  • 1.3K
  • 23 Dec 2020
Topic Review
The NFX1 Gene
The official name of the gene NFX1 in humans (Gene ID 4799 at NCBI) is Nuclear Transcription Factor, X-box binding 1. It is also known as NF-X1, NFX-1, NF.X1, NFX2, Tex42, and TEG-42 in the literature. For clarity, we will use the italicized term NFX1 for the human gene, and we will use NFX1 or isoform-specific names when discussing the human gene products. Regardless of this nomenclature, NFX1 has homologs across species. 
  • 1.3K
  • 05 May 2021
Topic Review
Blepharocheilodontic Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
  • 1.3K
  • 24 Dec 2020
Topic Review
EDAR Gene
Ectodysplasin A receptor: The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor. 
  • 1.3K
  • 24 Dec 2020
Topic Review
FGFR3 Gene
Fibroblast growth factor receptor 3: The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. 
  • 1.3K
  • 25 Dec 2020
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