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Topic Review
Werner Syndrome
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging.
  • 1.2K
  • 23 Dec 2020
Topic Review
Spastic Paraplegia Type 2
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form.  
  • 1.2K
  • 23 Dec 2020
Topic Review
Klinefelter Syndrome
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development.
  • 1.2K
  • 23 Dec 2020
Topic Review
Lujan Syndrome
Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.
  • 1.2K
  • 24 Dec 2020
Topic Review
GH1 Gene
Growth hormone 1
  • 1.2K
  • 25 Dec 2020
Topic Review
CircRNAs
Circular RNAs (circRNAs) are a class of non-coding RNAs that form a covalently closed loop.
  • 1.2K
  • 02 Feb 2021
Topic Review
Warfarin Resistance
Warfarin resistance is a condition in which individuals have a high tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming.
  • 1.2K
  • 23 Dec 2020
Topic Review
PTCH1 Gene
patched 1
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  • 23 Dec 2020
Topic Review
Chromosome 16
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs.
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  • 24 Dec 2020
Topic Review
Apomixis Sensu Stricto
Apomixis may now be regarded as a consequence of sexual failure (i.e., loss-of-function) rather than as a recipe for clonal success (i.e., gain-of-function). There is increasing evidence that apomixis is a modification of the normal sexual developmental pathway. Most of the events that characterize sexual reproduction may be retained both structurally and functionally in apomictic reproduction, with the exceptions that the reduced egg cell is replaced by an unreduced egg cell, with absent or modified meiosis (i.e., apomeiosis), and the seed development does occur without egg cell fertilization (i.e., parthenogenesis). In addition, it is clear that residual sexual function is retained in pseudogamous apomixis, as seed development may occur without fertilization of either the egg cell or the central cell (i.e., autonomous apomixis), but fertilization may be required to form the endosperm in many apomictic plants.
  • 1.2K
  • 26 Oct 2020
Topic Review
Epigenetics
Changes in gene expression/phenotype without underlying DNA modification.
  • 1.2K
  • 21 Dec 2020
Topic Review
Grange Syndrome
Grange syndrome is a rare condition that primarily affects the blood vessels. It is characterized by narrowing (stenosis) or blockage (occlusion) of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart.
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  • 23 Dec 2020
Topic Review
AML with Myelodysplasia-Related Changes
Acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) is a distinct biologic subtype of AML that represents 25–34% of all AML diagnoses and associates with especially inferior outcomes compared to non-MRC AML. Typically, patients with AML-MRC experience low remission rates following intensive chemotherapy and a median overall survival of merely 9–12 months. In light of these discouraging outcomes, it has become evident that more effective therapies are needed for patients with AML-MRC. Liposomal daunorubicin–cytarabine (CPX-351) was approved in 2017 for adults with newly diagnosed AML-MRC and those with therapy-related AML (t-AML), and remains the only therapy specifically approved for this patient population.
  • 1.2K
  • 26 Oct 2020
Topic Review
Stickler syndrome
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.  
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  • 23 Dec 2020
Topic Review
MT-CYB Gene
mitochondrially encoded cytochrome b
  • 1.2K
  • 23 Dec 2020
Topic Review
UHRF1 in the ECREM Complex
The abnormal DNA methylation profiles are transmitted from the cancer mother cell to the daughter cells through the involvement of a macromolecular complex in which the ubiquitin-like containing plant homeodomain (PHD), and an interesting new gene (RING) finger domains 1 (UHRF1), play the role of conductor. Indeed, UHRF1 interacts with epigenetic writers, such as DNA methyltransferase 1 (DNMT1), histone methyltransferase G9a, erasers like histone deacetylase 1 (HDAC1), and functions as a hub protein. Thus, targeting UHRF1 and/or its partners is a promising strategy for epigenetic cancer therapy. The natural compound thymoquinone (TQ) exhibits anticancer activities by targeting several cellular signaling pathways, including those involving UHRF1.
  • 1.2K
  • 27 May 2021
Topic Review
Small Fiber Neuropathy
Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands.
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  • 25 Dec 2020
Topic Review
GNAS Gene
GNAS complex locus
  • 1.2K
  • 23 Dec 2020
Topic Review
Primary Coenzyme Q10 Deficiency
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.
  • 1.2K
  • 24 Dec 2020
Topic Review
Cherubism
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.
  • 1.2K
  • 24 Dec 2020
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