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Topic Review
KCNQ1 Gene
Potassium voltage-gated channel subfamily Q member 1
  • 729
  • 23 Dec 2020
Topic Review
WNK1 Gene
WNK lysine deficient protein kinase 1.
  • 728
  • 24 Dec 2020
Topic Review
Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.
  • 728
  • 24 Dec 2020
Topic Review
DVL1 Gene
Dishevelled Segment Polarity Protein 1
  • 728
  • 24 Dec 2020
Topic Review
Polycomb Group Proteins and Cancer
The Polycomb-group proteins (PcGs) are a family of proteins that use epigenetic mechanisms to maintain or repress expression of their target genes. They were originally discovered in Drosophila (fruit flies), though they've been shown to be conserved in many species due to their vital roles in embryonic development. These proteins' ability to alter gene expression has made them targets of investigation for research groups seeking to understand disease pathology and oncology.
  • 728
  • 11 Nov 2022
Topic Review
Lattice Corneal Dystrophy Type I
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea.
  • 727
  • 23 Dec 2020
Topic Review
RAI1 Gene
retinoic acid induced 1
  • 727
  • 23 Dec 2020
Topic Review
SCN9A Gene
sodium voltage-gated channel alpha subunit 9
  • 727
  • 24 Dec 2020
Topic Review
COL4A3 Gene
collagen type IV alpha 3 chain
  • 727
  • 24 Dec 2020
Topic Review
TIMM8A Gene
Translocase of inner mitochondrial membrane 8A: The TIMM8A gene provides instructions for making a protein that is found inside mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.
  • 727
  • 25 Dec 2020
Topic Review
Chilling Requirement Validation
The introduction of herbaceous peony (Paeonia lactiflora Pall.) in low-latitude areas is of great significance to expand the landscape application of this world-famous ornamental. With the hazards of climate warming, warm winters occurs frequently, which makes many excellent northern herbaceous peony cultivars unable to meet their chilling requirements (CR) and leads to their poor growth and flowering in southern China. Exploring the endodormancy release mechanism of underground buds is crucial for improving low-CR cultivar screening and breeding. 
  • 727
  • 31 Aug 2021
Topic Review
Isolated Growth Hormone Deficiency
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone.
  • 726
  • 23 Dec 2020
Topic Review
LZTR1 Gene
Leucine zipper like transcription regulator 1
  • 726
  • 23 Dec 2020
Topic Review
YY1AP1 Gene
YY1 associated protein 1: the YY1AP1 gene provides instructions for making part of a group of associated proteins known as the INO80 chromatin remodeling complex. 
  • 726
  • 24 Dec 2020
Topic Review
BOLA3 Gene
bolA family member 3
  • 726
  • 24 Dec 2020
Topic Review
DICER1 Syndrome
DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors.
  • 726
  • 24 Dec 2020
Topic Review
TUBA1A Gene
Tubulin alpha 1a.
  • 725
  • 23 Dec 2020
Topic Review
Thrombocytopenia-absent Radius Syndrome
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.  
  • 725
  • 23 Dec 2020
Topic Review
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia is a defect in the diaphragm.
  • 725
  • 24 Dec 2020
Topic Review
Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system.
  • 725
  • 24 Dec 2020
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