Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=26763787
&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests
in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215
Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26763787
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Am+Soc+Nephrol
2016 ; 27
(6
): 1596-603
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Alternative Splicing in CKD
#MMPMID26763787
Stevens M
; Oltean S
J Am Soc Nephrol
2016[Jun]; 27
(6
): 1596-603
PMID26763787
show ga
Alternative splicing (AS) has emerged in the postgenomic era as one of the main
drivers of proteome diversity, with ?94% of multiexon genes alternatively spliced
in humans. AS is therefore one of the main control mechanisms for cell phenotype,
and is a process deregulated in disease. Numerous reports describe pathogenic
mutations in splice factors, splice sites, or regulatory sequences. Additionally,
compared with the physiologic state, disease often associates with an abnormal
proportion of splice isoforms (or novel isoforms), without an apparent driver
mutation. It is therefore essential to study how AS is regulated in physiology,
how it contributes to pathogenesis, and whether we can manipulate faulty splicing
for therapeutic advantage. Although the disease most commonly linked to
deregulation of AS in several genes is cancer, many reports detail pathogenic
splice variants in diseases ranging from neuromuscular disorders to diabetes or
cardiomyopathies. A plethora of splice variants have been implicated in CKDs as
well. In this review, we describe examples of these CKD-associated splice
variants and ideas on how to manipulate them for therapeutic benefit.
free
free
free
