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Topic Review
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.
  • 777
  • 24 Dec 2020
Topic Review
Desmoid Tumor
A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.
  • 777
  • 24 Dec 2020
Topic Review
MT-TV Gene
mitochondrially encoded tRNA valine
  • 776
  • 23 Dec 2020
Topic Review
Infantile-Onset Ascending Hereditary Spastic Paralysis
Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia).
  • 776
  • 23 Dec 2020
Topic Review
ALS2 Gene
ALS2, alsin Rho guanine nucleotide exchange factor. The ALS2 gene provides instructions for making a protein called alsin.
  • 776
  • 24 Dec 2020
Topic Review
ZNF341 Gene
Zinc finger protein 341
  • 776
  • 24 Dec 2020
Topic Review
EMD Gene
Emerin: The EMD gene provides instructions for making a protein called emerin. 
  • 776
  • 24 Dec 2020
Topic Review
Dupuytren Contracture
Dupuytren contracture is characterized by a deformity of the hand in which the joints of one or more fingers cannot be fully straightened (extended); their mobility is limited to a range of bent (flexed) positions. The condition is a disorder of connective tissue, which supports the body's muscles, joints, organs, and skin and provides strength and flexibility to structures throughout the body. In particular, Dupuytren contracture results from shortening and thickening of connective tissues in the hand, including fat and bands of fibrous tissue called fascia; the skin is also involved.
  • 776
  • 24 Dec 2020
Topic Review
HADHA Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
  • 775
  • 22 Dec 2020
Topic Review
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps.
  • 775
  • 23 Dec 2020
Topic Review
Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing.
  • 775
  • 24 Dec 2020
Topic Review
Donnai-Barrow Syndrome
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
  • 775
  • 24 Dec 2020
Topic Review
SMN1 Gene
survival of motor neuron 1, telomeric
  • 775
  • 24 Dec 2020
Topic Review
F5 Gene
Coagulation factor V
  • 775
  • 24 Dec 2020
Topic Review
lncRNAs as Clinical Biomarkers in Clinical Practice
Given their tumor-specific and stage-specific gene expression, long non-coding RNAs (lncRNAs) have demonstrated to be potential molecular biomarkers for diagnosis, prognosis, and treatment response. Particularly, the lncRNAs DSCAM-AS1 and GATA3-AS1 serve as examples of this because of their high subtype-specific expression profile in luminal B-like breast cancer. This makes them candidates to use as molecular biomarkers in clinical practice. However, lncRNA studies in breast cancer are limited in sample size and are restricted to the determination of their biological function, which represents an obstacle for its inclusion as molecular biomarkers of clinical utility. Nevertheless, due to their expression specificity among diseases, such as cancer, and their stability in body fluids, lncRNAs are promising molecular biomarkers that could improve the reliability, sensitivity, and specificity of molecular techniques used in clinical diagnosis. The development of lncRNA-based diagnostics will be useful in routine medical practice to improve patient clinical management and quality of life.
  • 775
  • 04 May 2023
Topic Review
SRCAP Gene
Snf2 related CREBBP activator protein
  • 774
  • 22 Dec 2020
Topic Review
Multiple Pterygium Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
  • 774
  • 23 Dec 2020
Topic Review
LRP2 Gene
LDL receptor related protein 2
  • 774
  • 23 Dec 2020
Topic Review
Amish Lethal Microcephaly
Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.  
  • 774
  • 24 Dec 2020
Topic Review
F9 Gene
Coagulation Factor IX: The F9 gene provides instructions for making a protein called coagulation factor IX. 
  • 774
  • 25 Dec 2020
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