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1.
Journal of Biomedical Engineering ; (6): 111-121, 2021.
Artículo en Chino | WPRIM | ID: wpr-879256

RESUMEN

The emergence of regular short repetitive palindromic sequence clusters (CRISPR) and CRISPR- associated proteins 9 (Cas9) gene editing technology has greatly promoted the wide application of genetically modified pigs. Efficient single guide RNA (sgRNA) is the key to the success of gene editing using CRISPR/Cas9 technology. For large animals with a long reproductive cycle, such as pigs, it is necessary to screen out efficient sgRNA


Asunto(s)
Animales , Sistemas CRISPR-Cas/genética , Repeticiones Palindrómicas Cortas Agrupadas y Regularmente Espaciadas/genética , Edición Génica , /genética , Porcinos
2.
Korean Journal of Pediatrics ; : 111-114, 2004.
Artículo en Coreano | WPRIM | ID: wpr-211006

RESUMEN

Tyrosinemia type 1 is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation in the gene coding for the enzyme fumarylacetoacetate hydrolase(FAH). As a result, maleylacetoacetate(MAA) and fumarylacetoacetate(FAA) are formed. The accumulated FAA is converted into succinylacetone(SA) and succinylacetoacetate(SAA) which are excreted in urine. The first report with typical clinical and biochemical findings was presented by Sakai in 1957. Clinically, the disorder is characterized by progressive liver damage with liver failure, a high risk of hepatocellular carcinoma and renal tubular dysfunction hypophosphataemic rickets. Some patients have porphyria-like episodes. Liver transplantation has been the ultimate treatment of tyrosinemia. However pharmacological therapy with 2-(2-nitro-4-trifluoromethylbenzoyl) -1,3-cyclohexanedione(NTBC) has offered a new therapeutic option in addition to dietary restriction of tyrosine and phenylalanine. We experienced a case of tyrosinemia type 1 with cytomegalovirus infection in a 4-month-old male who improved by dietary restriction of tyrosine and phenylalanine.


Asunto(s)
Humanos , Lactante , Masculino , Carcinoma Hepatocelular , Codificación Clínica , Infecciones por Citomegalovirus , Citomegalovirus , Hígado , Fallo Hepático , Trasplante de Hígado , Metabolismo , Fenilalanina , Raquitismo , Tirosina , Tirosinemias
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