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All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
VKORC1 Gene
Vitamin K epoxide reductase complex subunit 1.
  • 711
  • 23 Dec 2020
Topic Review
Hereditary Hypophosphatemic Rickets
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.
  • 711
  • 23 Dec 2020
Topic Review
KCNQ1 Gene
Potassium voltage-gated channel subfamily Q member 1
  • 711
  • 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. 
  • 711
  • 24 Dec 2020
Topic Review
Cranioectodermal Dysplasia
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 711
  • 24 Dec 2020
Topic Review
PSEN1 Gene
presenilin 1
  • 710
  • 23 Dec 2020
Topic Review
SALL4 Gene
spalt like transcription factor 4
  • 710
  • 24 Dec 2020
Topic Review
SCN9A Gene
sodium voltage-gated channel alpha subunit 9
  • 710
  • 24 Dec 2020
Topic Review
NOP56 Gene
NOP56 ribonucleoprotein
  • 710
  • 24 Dec 2020
Topic Review
COL6A3 Gene
collagen type VI alpha 3 chain
  • 710
  • 24 Dec 2020
Topic Review
FKRP Gene
Fukutin related protein: The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). 
  • 710
  • 25 Dec 2020
Topic Review
MBL2 Gene
Mannose binding lectin 2
  • 709
  • 23 Dec 2020
Topic Review
SCNN1B Gene
sodium channel epithelial 1 beta subunit
  • 709
  • 24 Dec 2020
Topic Review
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia is a defect in the diaphragm.
  • 709
  • 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.
  • 709
  • 24 Dec 2020
Topic Review
lncRNAs as Clinical Biomarkers in Clinical Practice
Given their tumor-specific and stage-specific gene expression, long non-coding RNAs (lncRNAs) have demonstrated to be potential molecular biomarkers for diagnosis, prognosis, and treatment response. Particularly, the lncRNAs DSCAM-AS1 and GATA3-AS1 serve as examples of this because of their high subtype-specific expression profile in luminal B-like breast cancer. This makes them candidates to use as molecular biomarkers in clinical practice. However, lncRNA studies in breast cancer are limited in sample size and are restricted to the determination of their biological function, which represents an obstacle for its inclusion as molecular biomarkers of clinical utility. Nevertheless, due to their expression specificity among diseases, such as cancer, and their stability in body fluids, lncRNAs are promising molecular biomarkers that could improve the reliability, sensitivity, and specificity of molecular techniques used in clinical diagnosis. The development of lncRNA-based diagnostics will be useful in routine medical practice to improve patient clinical management and quality of life.
  • 709
  • 04 May 2023
Topic Review
Spastic Paraplegia Type 49
Spastic paraplegia type 49 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 only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and other problems with the nervous system. Spastic paraplegia type 49 is a complex hereditary spastic paraplegia.  
  • 708
  • 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.  
  • 708
  • 23 Dec 2020
Topic Review
ALG1-congenital Disorder of Glycosylation
ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.
  • 708
  • 23 Dec 2020
Topic Review
ANKRD11 Gene
ankyrin repeat domain 11
  • 708
  • 24 Dec 2020
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