WordNet

the process of declining from a higher to a lower level of effective power or vitality or essential quality (同)devolution
passing from a more complex to a simpler biological form (同)retrogression
a crystal of snow (同)flake

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

Zhang W1, Zhang X, Wang H, Sharma AK, Edwards AO, Hughes BA.
American journal of physiology. Cell physiology.Am J Physiol Cell Physiol.2013 Mar 1;304(5):C440-9. doi: 10.1152/ajpcell.00363.2012. Epub 2012 Dec 19.
KCNJ13 encodes Kir7.1, an inwardly rectifying K(+) channel that is expressed in multiple ion-transporting epithelia. A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with snowflake vitreoretinal degeneration, an inherited autosomal-do
PMID 23255580

Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

Pattnaik BR1, Tokarz S, Asuma MP, Schroeder T, Sharma A, Mitchell JC, Edwards AO, Pillers DA.
PloS one.PLoS One.2013 Aug 19;8(8):e71744. doi: 10.1371/journal.pone.0071744. eCollection 2013.
Snowflake Vitreoretinal Degeneration (SVD) is associated with the R162W mutation of the Kir7.1 inwardly-rectifying potassium channel. Kir7.1 is found at the apical membrane of Retinal Pigment Epithelial (RPE) cells, adjacent to the photoreceptor neurons. The SVD phenotype ranges from RPE degeneratio
PMID 23977131

Edwards AO.
Eye (London, England).Eye (Lond).2008 Oct;22(10):1233-42. doi: 10.1038/eye.2008.38. Epub 2008 Feb 29.
The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases
PMID 18309337