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Topic Review
FMR1 Gene
Fragile X mental retardation 1
  • 815
  • 25 Dec 2020
Topic Review
PDGFRB Gene
platelet derived growth factor receptor beta
  • 815
  • 25 Dec 2020
Topic Review
Omics and Male Infertility
Male infertility is a multifaceted disorder affecting approximately 50% of male partners in infertile couples. Over the years, male infertility has been diagnosed mainly through semen analysis, hormone evaluations, medical records and physical examinations, which of course are fundamental, but yet inefficient, because 30% of male infertility cases remain idiopathic. This dilemmatic status of the unknown needs to be addressed with more sophisticated and result-driven technologies and/or techniques. Genetic alterations have been linked with male infertility, thereby unveiling the practicality of investigating this disorder from the “omics” perspective. Omics aims at analyzing the structure and functions of a whole constituent of a given biological function at different levels, including the molecular gene level (genomics), transcript level (transcriptomics), protein level (proteomics) and metabolites level (metabolomics).
  • 815
  • 08 Mar 2022
Topic Review
RPL5 Gene
ribosomal protein L5
  • 814
  • 24 Dec 2020
Topic Review
EBP Gene
EBP, cholestenol delta-isomerase
  • 814
  • 24 Dec 2020
Topic Review
Genes Involved in the Pathogenic Potential of Mucorales
The classification of Mucorales encompasses a collection of basal fungi that have traditionally demonstrated an aversion to modern genetic manipulation techniques. This aversion led to a scarcity of knowledge regarding their biology compared to other fungal groups. However, the emergence of mucormycosis, a fungal disease caused by Mucorales, has attracted the attention of the clinical field, mainly because available therapies are ineffective for decreasing the fatal outcome associated with the disease. 
  • 814
  • 22 Mar 2023
Topic Review
Deafness and Myopia Syndrome
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision.
  • 813
  • 24 Dec 2020
Topic Review
Factor X Deficiency
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood.
  • 813
  • 25 Dec 2020
Topic Review
PIK3R2 Gene
phosphoinositide-3-kinase regulatory subunit 2
  • 813
  • 25 Dec 2020
Topic Review
PARK7 Gene
Parkinsonism associated deglycase
  • 813
  • 25 Dec 2020
Topic Review
Triple A Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.
  • 812
  • 23 Dec 2020
Topic Review
SLC40A1 Gene
solute carrier family 40 member 1
  • 812
  • 24 Dec 2020
Topic Review
POLR3B Gene
RNA polymerase III subunit B
  • 812
  • 25 Dec 2020
Topic Review
Krabbe Disease
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.
  • 811
  • 23 Dec 2020
Topic Review
DSG4 Gene
Desmoglein 4: The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). 
  • 811
  • 24 Dec 2020
Topic Review
X-linked Myotubular Myopathy
X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth.  
  • 811
  • 24 Dec 2020
Topic Review
AKT3 Gene
AKT serine/threonine kinase 3
  • 811
  • 24 Dec 2020
Topic Review
FGF8 Gene
Fibroblast growth factor 8: The FGF8 gene provides instructions for making a protein called fibroblast growth factor 8 (FGF8). 
  • 811
  • 25 Dec 2020
Topic Review
Familial Osteochondritis Dissecans
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton.
  • 811
  • 25 Dec 2020
Topic Review
MTHFR Gene
methylenetetrahydrofolate reductase
  • 810
  • 23 Dec 2020
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