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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 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]
In October 2011, the first clinical trial was announced for the treatment of choroideremia. [12] Dr. Robert MacLaren of the University of Oxford, who lead the trial, co-developed the treatment with Dr. Miguel Seabra of the Imperial College, London. This Phase 1/2 trial used subretinal AAV to restore the REP gene in affected patients. [13]
12662 Ensembl ENSG00000188419 ENSMUSG00000025531 UniProt P24386 Q9QXG2 RefSeq (mRNA) NM_000390 NM_001037312 NM_001145414 NM_001320959 NM_001362517 NM_001362518 NM_001362519 NM_152579 NM_018818 NM_001370788 NM_001370789 NM_001370790 RefSeq (protein) NP_000381 NP_001138886 NP_001307888 NP_001349446 NP_001349447 NP_001349448 n/a Location (UCSC) Chr X: 85.86 – 86.05 Mb Chr X: 111.95 – 112.1 Mb ...
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 .
The pygmy mammoth is an example of insular dwarfism, a case of Foster's rule, its unusually small body size an adaptation to the limited resources of its island home.. A biological rule or biological law is a generalized law, principle, or rule of thumb formulated to describe patterns observed in living organisms.
Chorioretinitis is an inflammation of the choroid (thin pigmented vascular coat of the eye) and retina of the eye. It is a form of posterior uveitis.Inflammation of these layers can lead to vision-threatening complications.
Adrenoleukodystrophy; Other names: X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease, bronze Schilder disease: White matter, with reduced volume and increased signal intensity.