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Topic Review
Cerebral Cavernous Malformation
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).
  • 657
  • 24 Dec 2020
Topic Review
Integrated Genetic Approaches for Nutritional Activities in Rice
The primary considerations in rice (Oryza sativa L.) production evoke improvements in the nutritional quality as well as production. Rice cultivars need to be developed to tackle hunger globally with high yield and better nutrition. The traditional cultivation methods of rice to increase the production by use of non-judicious fertilizers to fulfill the nutritional requirement of the masses. Scientific advancements in genetic resources provide many approaches for better understanding the molecular mechanisms encircled in a specific trait for its up- or down-regulation for opening new horizons for marker-assisted breeding of new rice varieties. In this perspective, genome-wide association studies, genome selection (GS) and QTL mapping are all genetic analysis that help in precise augmentation of specific nutritional enrichment in rice grain. Implementation of several omics techniques are effective approaches to enhance and regulate the nutritional quality of rice cultivars. Advancements in different types of omics including genomics and pangenomics, transcriptomics, metabolomics, nutrigenomics and proteomics are also relevant to rice development initiatives. 
  • 657
  • 24 Nov 2022
Topic Review
Features and Functions of Alternative Exon Splicing Events
Manipulation using alternative exon splicing (AES), alternative transcription start (ATS), and alternative polyadenylation (APA) sites are key to transcript diversity underlying health and disease. All three are pervasive in organisms, present in at least 50% of human protein-coding genes. These RNA variants have been shown to be highly specific, both in tissue type and stage, with demonstrated importance to cell proliferation, differentiation and the transition from fetal to adult cells. While alternative exon splicing has a limited effect on protein identity, its ubiquity highlights the importance of these minor alterations, which can alter other features such as localization.
  • 657
  • 17 Nov 2023
Topic Review
HIVEP2-Related Intellectual Disability
HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features).
  • 656
  • 23 Dec 2020
Topic Review
IL7R Gene
Interleukin 7 receptor
  • 656
  • 23 Dec 2020
Topic Review
Hyaline Fibromatosis Syndrome
Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs.
  • 655
  • 23 Dec 2020
Topic Review
Keratoconus
Keratoconus is an eye condition that affects the shape of the cornea, which is the clear outer covering of the eye.
  • 655
  • 23 Dec 2020
Topic Review
Inhibitor of Growth 1
The Inhibitor of Growth (ING) proteins constitute a family of tumor suppressors with five conserved genes in humans and mice, most of them producing several protein products through alternative splicing events.
  • 655
  • 04 Jul 2022
Topic Review
KRT6A Gene
Keratin 6A
  • 654
  • 01 May 2021
Topic Review
CYP11B1 Gene
Cytochrome P450 Family 11 Subfamily B Member 1: The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. 
  • 654
  • 23 Dec 2020
Topic Review
RRM2B Gene
ribonucleotide reductase regulatory TP53 inducible subunit M2B
  • 654
  • 24 Dec 2020
Topic Review
Intrahepatic Cholestasis of Pregnancy
Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women.
  • 653
  • 23 Dec 2020
Topic Review
SAMD9L Gene
sterile alpha motif domain containing 9 like
  • 653
  • 24 Dec 2020
Topic Review
Craniofacial-Deafness-Hand Syndrome
Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.
  • 653
  • 24 Dec 2020
Topic Review
CLN6 Gene
CLN6, transmembrane ER protein
  • 653
  • 24 Dec 2020
Topic Review
NIPBL Gene
NIPBL, cohesin loading factor
  • 652
  • 23 Dec 2020
Topic Review
KCNQ4 Gene
Potassium voltage-gated channel subfamily Q member 4
  • 652
  • 23 Dec 2020
Topic Review
Leptin Receptor Deficiency
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life.
  • 652
  • 24 Dec 2020
Topic Review
TFAP2B Gene
Transcription factor AP-2 beta: The TFAP2B gene provides instructions for making a protein called transcription factor AP-2β.
  • 652
  • 25 Dec 2020
Topic Review
MMP20 Gene
matrix metallopeptidase 20
  • 651
  • 12 Apr 2021
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