scholarly journals Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

2010 ◽  
Vol 31 (10) ◽  
pp. 1163-1173 ◽  
Author(s):  
Angelika C. Roehl ◽  
Julia Vogt ◽  
Tanja Mussotter ◽  
Antje N. Zickler ◽  
Helene Spöti ◽  
...  
2021 ◽  
Author(s):  
Yongli Zhang ◽  
Tao Wu ◽  
Wen Li ◽  
Yunjiao Zhao ◽  
Hairong Long ◽  
...  

Previous study suggests Lactobacillus casei exhibit antihyperglycemic activity, however, the molecular mechanism has rarely been elucidated. Here, the anti-diabetic effects and underlying mechanisms of Lactobacillus casei LC89 were investigated in...


Diabetes ◽  
2012 ◽  
Vol 62 (3) ◽  
pp. 987-992 ◽  
Author(s):  
M. E. Travers ◽  
D. J. G. Mackay ◽  
M. Dekker Nitert ◽  
A. P. Morris ◽  
C. M. Lindgren ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Adrian Mc Cormack ◽  
Juliet Taylor ◽  
Leah Te Weehi ◽  
Donald R. Love ◽  
Alice M. George

Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses theCRHR1, MAPT,andKANSL1genes, as well as a microdeletion in chromosome 7q31.33 that is localised within theGRM8gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.


Author(s):  
Venkataraman Balaji ◽  
Jayaraman Selvaraj ◽  
Sampath Sathish ◽  
Chinnaiyan Mayilvanan ◽  
Karundevi Balasubramanian

A siddha polyherbal preparation consisting of 5 medicinal plants, namely, Asparagus racemosus, Emblica officinalis, Salacia oblonga, Syzygium aromaticum, and Tinospora cordifolia, in equal ratio, was formulated to examine the molecular mechanism by which it exhibits antidiabetic effects in the liver of high-fat and fructose-induced type 2 diabetic rats. The polyherbal preparation treated type 2 diabetic rats showed an increase in insulin receptor, Akt, and glucose transporter2 mRNA levels compared with diabetic rats. Insulin receptor, insulin receptor substrate-2, Akt, phosphorylated Akt substrate of 160kDaThreonine642, α-Actinin-4, β-arrestin-2, and glucose transporter2 proteins were also markedly decreased in diabetic rats, whereas the polyherbal preparation treatment significantly improved the expression of these proteins more than that of metformin-treated diabetic rats. The expression pattern of insulin signaling molecules analyzed in the present study signifies the therapeutic efficacy of the siddha polyherbal preparation.


2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Hongyin Du ◽  
Cuisong Zhou ◽  
Hui Wu ◽  
Tianyue Shan ◽  
Zhenjue Wu ◽  
...  

The inducible coactivator PGC-1αplays master regulator in mitochondrial biogenesis and thermogenesis in brown adipose tissues (BATs). BAT is a natural antiobesity organ which dissipates chemical energy in the form of heat through specialized mitochondrial protein UCP-1. Eletroacupuncture (EA) has been widely used as an alternative treatment for obesity and its related disorders such as type 2 diabetes. The molecular mechanism of electroacupuncture on treatment of obesity is still unclear. We hypothesized that electroacupuncture induced PGC-1αexpression to increase the energy expenditure in BAT. Rats were randomly divided into control group and electroacupuncture treatment group. We investigated the effects of electroacupuncture at Zusanli (ST36) acupoint on the expressions of PGC-1αand its associated genes in the BAT of rats using real-time PCR and western blotting. We found that electroacupuncture effectively induces the expression of PGC-1αand UCP-1 by 4-fold and 5-fold in the BAT of rats, respectively. Our results indicated that the molecular mechanism of electroacupuncture for the treatment of obesity may be, or at least partially, through induction of both PGC-1αand UCP-1 expressions to increase energy expenditure in BAT.


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