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| Smalley,Susan V.; Preiss,Yudith; Suazo,José; Vega,Javier Andrés; Angellotti,Isidora; Lagos,Carlos F.; Rivera,Enzo; Kleinsteuber,Karin; Campion,Javier; Martínez,J. Alfredo; Maiz,Alberto; Santos,José Luis. |
| Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Early diagnosis is critical, because treatment with chenodeoxycholic acid may prevent neurological damage. We studied the CYP27A1 gene in two Chilean CTX patients by sequencing its nine exons, exon-intron boundaries, and cDNA from peripheral blood mononuclear cells. Patient 1 is a compound heterozygote for the novel substitution c.256-1G > T that causes exon 2... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cerebrotendinous Xanthomatosis; Splicing; Mutation; Exon skipping. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100030 |
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| Siriphorn Rotarayanont; Pawini Dankittikool; Chutima Saesea; Bhutri Sornboon; Tawatchai Wichayapol; Jaruwan Oonnankart. |
| SSSIVb gene, which is the group of Soluble Starch Synthase enzyme, concerns to synthesis amylopectin in the seed of rice. In this research, we will examine the process of mRNA splicing intron 6, 7, 8 and 9 of SSSIVb gene and observe the expression of gene in development of seed at 5, 10 and 15 days after flowering (DAF) in 5 varieties of the rice which are RD10, Chai Nat 1, Niew Phrae 1, San-pah-tawng 1 and Suphan Buri 60. All of those varieties have different quality of cooking. From the experimental, we found that Chai Nat 1 had splicing in 5 DAF rice seeds but no expression in 10 and 15 DAF rice seeds. In Suphan Buri 60 had splicing in 10 DAF rice seeds but no expression in 5 and 15 DAF rice seeds. And RD 10, Niew Phrae 1, San Pah Tawng 1 had splicing... |
| Tipo: Collection |
Palavras-chave: Rice; MRNA; Splicing; Starch synthase gene; Amylopectin; Cooking quality; ข้าว; MRNA; การตัดต่อยีน; ยีนสร้างแป้ง; อมิโลเพคติน; คุณภาพการหุงต้ม; การแสดงออกของยีน. |
| Ano: 2012 |
URL: http://anchan.lib.ku.ac.th/agnet/handle/001/5351 |
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| Rocas,M.; Jakubauskiene,E.; Kanopka,A.. |
| Polychlorinated dibenzo-p-dioxins (PCDDs) and related halogenated aromatic hydrocarbons (e.g., PCDFs), often called "dioxins", are ubiquitously present environmental contaminants. Some of them, notably 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), are among the most toxic synthetic compounds known. The biological effects of dioxins are mediated via the aryl hydrocarbon receptor (AhR). Mutations in the AhR transactivation domain are linked to sensitivity to the acute lethality of TCDD. We present here a study of AhR gene polymorphism in normal and cancer human tissues affecting pre-mRNA splicing in the AhR gene-coding transactivation domain region (exon 10, intron 10, exon 11 region), previously shown to be associated with AhR dysfunction. We tested 126 pairs... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ah receptor; Polymorphism; Splicing; Cancer; Dioxins. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011001100006 |
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