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Topic Review
SERPINI1 Gene
serpin family I member 1
  • 737
  • 24 Dec 2020
Topic Review
SLURP1 Gene
secreted LY6/PLAUR domain containing 1
  • 737
  • 24 Dec 2020
Topic Review
LncRNAs Display Circadian Rhythmicity in Zebrafish Larvae
Long noncoding RNAs (lncRNAs) have been shown to play crucial roles in various life processes, including circadian rhythms. Although next generation sequencing technologies have facilitated faster profiling of lncRNAs, the resulting datasets require sophisticated computational analyses. In particular, the regulatory roles of lncRNAs in circadian clocks are far from being completely understood.
  • 737
  • 07 Dec 2021
Topic Review
Next-Generation Sequencing in Bone Genetic Diseases
The development of next-generation sequencing (NGS) has dramatically increased the speed and volume of genetic analysis. Furthermore, the range of applications of NGS is rapidly expanding to include genome, epigenome (such as DNA methylation), metagenome, and transcriptome analyses (such as RNA sequencing and single-cell RNA sequencing). NGS enables genetic research by offering various sequencing methods as well as combinations of methods. Bone tissue is the most important unit supporting the body and is a reservoir of calcium and phosphate ions, which are important for physical activity.
  • 737
  • 11 Sep 2023
Topic Review
Clouston Syndrome
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
  • 736
  • 24 Dec 2020
Topic Review
ATP8B1 Gene
ATPase phospholipid transporting 8B1
  • 736
  • 24 Dec 2020
Topic Review
CFHR5 Gene
complement factor H related 5
  • 736
  • 24 Dec 2020
Topic Review
Hereditary Multiple Osteochondromas
Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas.
  • 736
  • 23 Dec 2020
Topic Review
PRRT2 Gene
proline rich transmembrane protein 2
  • 735
  • 22 Dec 2020
Topic Review
Hyperferritinemia-Cataract Syndrome
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body.
  • 735
  • 23 Dec 2020
Topic Review
Retroperitoneal Fibrosis
Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum).
  • 735
  • 24 Dec 2020
Topic Review
CARD9 Gene
caspase recruitment domain family member 9
  • 735
  • 24 Dec 2020
Topic Review
GPI Gene
Glucose-6-phosphate isomerase
  • 734
  • 22 Dec 2020
Topic Review
Multiple Mitochondrial Dysfunctions Syndrome
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.
  • 734
  • 01 May 2021
Topic Review
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance.
  • 734
  • 24 Dec 2020
Topic Review
DOLK Gene
Dolichol Kinase
  • 734
  • 24 Dec 2020
Topic Review
EVC2 Gene
EvC ciliary complex subunit 2
  • 734
  • 24 Dec 2020
Topic Review
Gene–Diet Interactions on Metabolic Disease-Related Outcomes
Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries.
  • 734
  • 31 Jul 2023
Topic Review
Metatropic Dysplasia
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities.
  • 733
  • 23 Dec 2020
Topic Review
Complement Component 8 Deficiency
Complement component 8 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria.
  • 733
  • 24 Dec 2020
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