Search results
Results from the WOW.Com Content Network
Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and REP-2 (a REP-1 like protein) both help with the prenylation and transport of Rab proteins. [6] Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. [7]
Main page; Contents; Current events; Random article; About Wikipedia; Contact us; Pages for logged out editors learn more
Unlike the topographic maps of the senses, the neurons of the motor cortex are efferent neurons that exit the brain instead of bringing information to the brain through afferent connections. The motor system is responsible for initiating voluntary or planned movements ( reflexes are mediated at the spinal cord level, so movements that ...
Former head of brain interfaces software at Neuralink. Conor Lenahan. Head of brain interfaces mechanical engineering. Philip Mao. Deputy general counsel. Andrew Musk. Software engineer Musk’s ...
That set him up to be more sensitive to hyponatremia, in which the body holds on to too much water, causing symptoms including nausea, headache, cramping, confusion, fatigue, seizures and in ...
A sensory map is an area of the brain which responds to sensory stimulation, and are spatially organized according to some feature of the sensory stimulation.In some cases the sensory map is simply a topographic representation of a sensory surface such as the skin, cochlea, or retina.