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Topic Review
Gnathodiaphyseal Dysplasia
Gnathodiaphyseal dysplasia is a disorder that affects the bones.
  • 643
  • 23 Dec 2020
Topic Review
SLC2A10 Gene
solute carrier family 2 member 10
  • 643
  • 24 Dec 2020
Topic Review
Gene Regulatory Networks in Cancer
Cancer is a genetic disease that involves perturbation of gene regulatory networks (GRNs) caused by various mechanisms, such as copy number alteration, abnormal methylation status, abnormal protein configuration, and post-transcriptional dysregulation. Although driver gene mutation information is crucial for the estimation of the genetic etiology of cancer, it is becoming increasingly evident that many genes are involved in cancer pathophysiology, which appears to disrupt GRNs. In this context, the identification of information regarding gene regulation in cancer tissues is expected to provide invaluable information for the development of anticancer agents or cancer management strategies.
  • 643
  • 21 Dec 2021
Topic Review
CUL7 Gene
Cullin 7: The CUL7 gene provides instructions for making a protein called cullin-7.
  • 642
  • 23 Dec 2020
Topic Review
Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.
  • 642
  • 23 Dec 2020
Topic Review
SCN5A Gene
sodium voltage-gated channel alpha subunit 5
  • 642
  • 24 Dec 2020
Topic Review
Sudden Unexpected Death in Epilepsy
Epilepsy is a common neurological disorder associated with increased morbidity and mortality. Sudden unexpected death in epilepsy, also known as SUDEP, is the main cause of death in patients with epilepsy. SUDEP has an incidence of 1.2 per 1000 person-years in adults and 0.2 per 1000 person-years in children. 
  • 642
  • 02 Mar 2022
Topic Review
NDP Gene
NDP, norrin cystine knot growth factor
  • 642
  • 23 Dec 2020
Topic Review
NBEAL2 Gene
neurobeachin like 2
  • 641
  • 23 Dec 2020
Topic Review
NCSTN Gene
nicastrin
  • 641
  • 23 Dec 2020
Topic Review
Lissencephaly with Cerebellar Hypoplasia
Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).
  • 641
  • 24 Dec 2020
Topic Review
Microphthalmia Family Translocation Renal Cell Carcinoma
The microphthalmia-associated transcription factor/transcription factor E (MiT/TFE) family of transcription factors are evolutionarily conserved, basic helix–loop–helix leucine zipper (bHLH-Zip) transcription factors, consisting of MITF, TFEB, TFE3, and TFEC. MiT/TFE proteins, with the exception of TFEC, are involved in the development of renal cell carcinoma (RCC). Most of the MiT/TFE transcription factor alterations seen in sporadic RCC cases of MiT family translocation renal cell carcinoma (tRCC) are chimeric proteins generated by chromosomal rearrangements. These chimeric MiT/TFE proteins retain the bHLH-Zip structures and act as oncogenic transcription factors. 
  • 641
  • 16 Jan 2023
Topic Review
RFXANK Gene
regulatory factor X associated ankyrin containing protein
  • 640
  • 24 Dec 2020
Topic Review
Generalizability of GWA-Identified Genetic Risk Variants
The Arabian Peninsula, located at the nexus of Africa, Europe, and Asia, was implicated in early human migration. The Arab population is characterized by consanguinity and endogamy leading to inbreeding. Global genome-wide association (GWA) studies on metabolic traits under-represent the Arab population. Replicability of GWA-identified association signals in the Arab population has not been satisfactorily explored. It is important to assess how well GWA-identified findings generalize if their clinical interpretations are to benefit the target population. 
  • 640
  • 26 Oct 2021
Topic Review
Physiology of Glycosylphosphatidylinositol-Anchored Proteins II
Glycosylphosphatidylinositol (GPI)-anchored proteins (APs) are anchored at the outer leaflet of the plasma membrane (PM) bilayer by covalent linkage to a typical glycolipid and expressed in all eukaryotic organisms so far studied. Lipolytic release from PMs into extracellular compartments and intercellular transfer are regarded as the main (patho)physiological roles exerted by GPI-APs.
  • 640
  • 30 Jun 2023
Topic Review
MID1 Gene
midline 1
  • 639
  • 22 Dec 2020
Topic Review
PROS1 Gene
protein S
  • 639
  • 22 Dec 2020
Topic Review
ITPR1 Gene
Inositol 1,4,5-trisphosphate receptor type 1
  • 639
  • 23 Dec 2020
Topic Review
MECP2 Duplication Syndrome
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability.
  • 639
  • 24 Dec 2020
Topic Review
ERCC3 Gene
ERCC excision repair 3, TFIIH core complex helicase subunit
  • 639
  • 24 Dec 2020
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