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Topic Review
Gillespie Syndrome
Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.
  • 916
  • 23 Dec 2020
Topic Review
DHCR7 Gene
7-Dehydrocholesterol Reductase: The DHCR7 gene provides instructions for making an enzyme called 7-dehydrocholesterol reductase. 
  • 916
  • 24 Dec 2020
Topic Review
DPYS Gene
Dihydropyrimidinase
  • 916
  • 04 Jan 2021
Topic Review
Lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body.
  • 915
  • 24 Dec 2020
Topic Review
DRD5 Gene
Dopamine Receptor D5
  • 915
  • 24 Dec 2020
Topic Review
CHRNB2 Gene
cholinergic receptor nicotinic beta 2 subunit
  • 915
  • 24 Dec 2020
Topic Review
Familial Porencephaly
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders.
  • 914
  • 25 Dec 2020
Topic Review
Sporadic Hemiplegic Migraine
Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.
  • 913
  • 23 Dec 2020
Topic Review
Lateral Meningocele Syndrome
Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.
  • 913
  • 23 Dec 2020
Topic Review
Lowe Syndrome
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.
  • 913
  • 24 Dec 2020
Topic Review
FANCC Gene
FA complementation group C
  • 913
  • 25 Dec 2020
Topic Review
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). Studies of Tbx1-mutant mice have provided insights into the underlying pathogenesis of DGS/VCFS and the knowledge to diagnose patients with DGS/VCFS. Genes, miRNAs, and epigenetics could change Tbx1 expression. Polymorphisms, variations, and mutations in TBX1 may induce the penetrance and severity of DGS/VCFS-like craniofacial phenotypes. The molecular basis of the variant sequence of TBX1 will further define how TBX1 contributes to the craniofacial and other phenotypes of DGS/VCFS. Since interactions with TBX1 and other molecules in transcriptional complexes or chromatin remodeling are crucial for TBX1 function, identifying and understanding these genetic and epigenetic modifiers individually for each patient may direct therapeutics to minimize the severity.
  • 913
  • 27 May 2022
Topic Review
CHMP2B-Related Frontotemporal Dementia
CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.
  • 912
  • 24 Dec 2020
Topic Review
Sialidosis
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
  • 912
  • 25 Dec 2020
Topic Review
Predicting Physical Appearance from DNA- Towards Genomic Solutions
The idea of forensic DNA intelligence is to extract from genomic data any information that can help guide the investigation. The advances in understanding the genetics of various human phenotypes, the progress in high-throughput genotyping technologies and machine-learning methods allow the prediction of physical appearance traits. In addition, the evolution of approaches to genetic prediction of physical traits from building predictive models based on variables showing genetic association to variables that improve prediction performance is presented.
  • 912
  • 29 Jan 2022
Topic Review
Telomeric and Sub-Telomeric in Fungal
Telomeres are long non-coding regions found at the ends of eukaryotic linear chromosomes. Although they have traditionally been associated with the protection of linear DNA ends to avoid gene losses during each round of DNA replication, the role of these sequences and their adjacent regions go beyond just protecting chromosomal ends. Regions nearby to telomeric sequences have now been identified as having increased variability in the form of duplications and rearrangements that result in new functional abilities and biodiversity.
  • 912
  • 09 Oct 2023
Topic Review
MMACHC Gene
metabolism of cobalamin associated C
  • 912
  • 22 Dec 2020
Topic Review
LIPA Gene
Lipase A, lysosomal acid type
  • 911
  • 23 Dec 2020
Topic Review
XPC Gene
XPC complex subunit, DNA damage recognition and repair factor: the XPC gene provides instructions for making a protein that is involved in repairing damaged DNA. 
  • 911
  • 24 Dec 2020
Topic Review
Beta-Mannosidosis
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
  • 911
  • 24 Dec 2020
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