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Topic Review
Distal Myopathy 2
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.
  • 1.1K
  • 24 Dec 2020
Topic Review
MC1R Gene
Melanocortin 1 receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
15q24 Microdeletion
15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.
  • 1.1K
  • 26 Aug 2021
Topic Review
7q11.23 Duplication Syndrome
7q11.23 duplication syndrome is a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities.  
  • 1.1K
  • 23 Dec 2020
Topic Review
Acatalasemia
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.
  • 1.1K
  • 04 Feb 2021
Topic Review
MYD88 Gene
MYD88, innate immune signal transduction adaptor
  • 1.1K
  • 23 Dec 2020
Topic Review Video
Crosstalk between Apoptosis and Autophagy
Research in biomedical sciences has changed dramatically over the past fifty years. There is no doubt that the discovery of apoptosis and autophagy as two highly synchronized and regulated mechanisms in cellular homeostasis are among the most important discoveries in these decades. Along with the advancement in molecular biology, identifying the genetic players in apoptosis and autophagy has shed light on our understanding of their function in physiological and pathological conditions. Apoptosis and autophagy play essential roles in human health, and their malfunction leads to many diseases, including cancer, neurodegenerative disease, and autoimmune disorders. These mechanisms are highly regulated, and there is complex crosstalk between them.
  • 1.1K
  • 29 Mar 2022
Topic Review
TK2 Gene
Thymidine kinase 2, mitochondrial: The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
Retinitis Pigmentosa
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
  • 1.1K
  • 04 Jan 2021
Topic Review
Harlequin Ichthyosis
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.
  • 1.1K
  • 23 Dec 2020
Topic Review
Mainzer-Saldino Syndrome
Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.
  • 1.1K
  • 23 Dec 2020
Topic Review
LDLR Gene
Low density lipoprotein receptor
  • 1.1K
  • 23 Dec 2020
Topic Review
Spondylothoracic Dysostosis
Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs.
  • 1.1K
  • 23 Dec 2020
Topic Review
FGA Gene
Fibrinogen alpha chain
  • 1.1K
  • 25 Dec 2020
Topic Review
Dehydrin Genes in Model Brachypodium Grasses
Dehydration proteins (dehydrins, DHNs) confer tolerance to water-stress deficit in plants. We performed a comparative genomics and evolutionary study of DHN genes in four model Brachypodium grass species. Ten dehydrins have been describe within Brachypodium species. Due to limited knowledge on dehydrin expression under water deprivation stress in Brachypodium, we also performed a drought-induced gene expression analysis in 32 ecotypes of the genus’ flagship species B. distachyon showing different hydric requirements. Bdhn1 - Bdhn2, Bdhn3 and Bdhn7 genes, orthologs of wheat, barley, rice, sorghum, and maize genes, were more highly expressed in plants under drought conditions.
  • 1.1K
  • 13 Dec 2021
Topic Review
MT-ND6 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
  • 1.1K
  • 23 Dec 2020
Topic Review
Oculocutaneous Albinism
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes.
  • 1.1K
  • 24 Dec 2020
Topic Review
X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.  
  • 1.1K
  • 24 Dec 2020
Topic Review
Progressive Familial Heart Block
Progressive familial heart block is a genetic condition that alters the normal beating of the heart.
  • 1.1K
  • 24 Dec 2020
Topic Review
Autoimmune Addison Disease
Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.
  • 1.1K
  • 24 Dec 2020
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