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Topic Review
Isolated Sulfite Oxidase Deficiency
Isolated sulfite oxidase deficiency (ISOD) is a disorder of the nervous system, with a severe "classic" form that starts in the newborn period and a milder, late-onset form that begins later in infancy or early childhood.
  • 741
  • 23 Dec 2020
Topic Review
DCTN1 Gene
Dynactin Subunit 1: The DCTN1 gene provides instructions for making a protein called dynactin-1. 
  • 741
  • 23 Dec 2020
Topic Review
CDKN1C Gene
cyclin dependent kinase inhibitor 1C
  • 741
  • 24 Dec 2020
Topic Review
IDH1 Gene
Isocitrate dehydrogenase (NADP(+)) 1, cytosolic
  • 741
  • 23 Dec 2020
Topic Review
Role of Enhancer-Mediated Transcriptional Regulation in Precision Biology
The emergence of precision biology has been driven by the development of advanced technologies and techniques in high-resolution biological research systems. Enhancer-mediated transcriptional regulation, a complex network of gene expression and regulation in eukaryotes, has attracted significant attention as a promising avenue for investigating the underlying mechanisms of biological processes and diseases. To address biological problems with precision, large amounts of data, functional information, and research on the mechanisms of action of biological molecules is required to address biological problems with precision. Enhancers, including typical enhancers and super enhancers, play a crucial role in gene expression and regulation within this network. The identification and targeting of disease-associated enhancers hold the potential to advance precision medicine.
  • 741
  • 05 Jul 2023
Topic Review
GPI Gene
Glucose-6-phosphate isomerase
  • 740
  • 22 Dec 2020
Topic Review
CRPPA Gene
CDP-L-ribitol pyrophosphorylase A
  • 740
  • 24 Dec 2020
Topic Review
RUNX1 Gene
runt related transcription factor 1
  • 740
  • 24 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).  
  • 739
  • 23 Dec 2020
Topic Review
CYP24A1 Gene
Cytochrome P450 Family 24 Subfamily A Member 1
  • 739
  • 23 Dec 2020
Topic Review
GLUT1 Deficiency Syndrome
GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms.
  • 738
  • 23 Dec 2020
Topic Review
DNMT3A Overgrowth Syndrome
DNMT3A overgrowth syndrome is a disorder characterized by faster than normal growth before and after birth, subtle differences in facial features, and intellectual disability.
  • 738
  • 24 Dec 2020
Topic Review
Malignant Hyperthermia
Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures.
  • 737
  • 23 Dec 2020
Topic Review
SMARCA4 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • 737
  • 24 Dec 2020
Topic Review
FOXC1 Gene
Forkhead box C1
  • 737
  • 25 Dec 2020
Topic Review
FOXN1 Gene
Forkhead box N1
  • 737
  • 25 Dec 2020
Topic Review
MPZ Gene
myelin protein zero
  • 737
  • 23 Dec 2020
Topic Review
Idiopathic Infantile Hypercalcemia
Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood (hypercalcemia). Two types of idiopathic infantile hypercalcemia have been identified and are distinguished by their genetic causes: infantile hypercalcemia 1 and infantile hypercalcemia 2.
  • 736
  • 23 Dec 2020
Topic Review
Pseudogene Transcripts in Head/Neck Cancer
Once considered nonfunctional, pseudogene transcripts are now known to provide valuable information for cancer susceptibility, including head and neck cancer (HNC), a serious health problem worldwide, with about 50% unimproved overall survival over the last decades. The present review focuses on the role of pseudogene transcripts involved in HNC risk and prognosis. Our study can guide new research to HNC understanding and development of new target therapies.
  • 736
  • 29 Mar 2022
Topic Review
Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.
  • 735
  • 23 Dec 2020
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