Mutations that cause laminopathy
By: Alicia M Prater PhD
Laminopathies are genetic disorders caused by mutations in the lamin family of nuclear proteins, lamin A/C. The LMNA gene encodes several lamin proteins, which are classified as type V intermediate filaments and make up the nuclear membrane. The various disorders include types of muscular dystrophy...
By: Dr. Bryan Katz
Parkinson's disease (PD) is a degenerative motor disorder resulting from the progressive loss of dopaminergic neurons in an area of the brain known as the basal ganglia, in particular two clusters of cells called the substantia nigra. The manifestations of PD appear when 80% or...
Types of laminopathy
By: Alicia M Prater PhD
The laminopathies are genetic conditions caused by mutations that affect the lamins, particularly lamin A/C, which is encoded by the LMNA gene. The lamins make up the protein matrix adjacent to the inner nuclear membrane in the nuclear envelope. Mutations in the LMNA gene destabilize...
By: Anja Emerson
Connective tissue is one of the four major tissue types and it is found in every organ system throughout the entire human body. Because its composition varies significantly according to its function and location, connective tissue includes many subtypes of tissues that make up arteries...
The role of the immune system in asthma
By: Ann Major
The body's first line of defense against any foreign invader such as germs or bacteria is the immune system (a complex group of cells and organs that fight against infection and other harmful particles). When the immune system is weakened or impaired in any way...
Infections associated with animal bites
By: Dr. Manura Nanayakkara
Human skin is a protective layer and it is the first line of defense against invading microorganisms. During an animal bite, that protective barrier is broken. In addition, various microorganisms that colonize the animal’s mouth enter into the human body via an animal bite...
The effects of laminopathy on the human body
By: Blaise Pascal
Lamins play an important role in the function and regulation of cells in the body. There are two types of lamins, the A-type and the B-type. Because of how important they are, problems with these lamins can result in serious and rare genetic disorders called...
The effects of laminopathy on the human body
By: Zain Arif
Laminopathy encompasses a broad range of rare genetic disorders brought about by a mutation in the human genetic structure. The part of the gene affected is responsible for encoding proteins of the nuclear lamina. The primary building blocks of the nuclear lamina are nuclear intermediate...
By: Blaise Pascal
Von Hippel-LIndau disease (VHL) is a rare and inherited condition where abnormal tumor growths occur in various parts of the body. Different types of tumors may grow in different areas but commonly occur where a large number of blood vessels are present. The areas where...
Treatment of Von Hippel-Lindau Syndrome
By: Cyndi Li
Von Hippel Lindau Syndrome, named for the two doctors who discovered the syndrome, affects one in every 32,000 children born in the United States of America alone. The disease causes the infected person to produce tumors in areas of their body which contain large...

 

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