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autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation

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Iron Overload in Hereditary Tyrosinemia Type 1 Induces Liver Injury through the Sp1/Tfr2/Hepcidin Axis.

Bao WD1, Fan Y1, Deng YZ1, Long LY1, Wang JJ1, Guan DX1, Qian ZY1, An P1, Feng YY1, He ZY2, Wang XF3, Koeffler HP4, Hu R5, Wang J6, Wang X7, Wang F8, Li JJ1, Xie D9.
Journal of hepatology.J Hepatol.2016 Mar 21. pii: S0168-8278(16)30078-2. doi: 10.1016/j.jhep.2016.03.007. [Epub ahead of print]
BACKGROUND & AIMS: Iron is an essential metal for fundamental metabolic processes, but little is known regarding the involvement of iron in other nutritional disorders. In the present study, we investigated disordered iron metabolism in a murine model of hereditary tyrosinemia type I (HT1), a di
PMID 27013087

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

Ijaz S, Zahoor MY, Imran M, Afzal S, Bhinder MA, Ullah I, Cheema HA, Ramzan K, Shehzad W.
Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2016 Mar 1;29(3):327-32. doi: 10.1515/jpem-2015-0289.
BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare inborn error of tyrosine catabolism with a worldwide prevalence of one out of 100,000 live births. HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, c
PMID 26565546

Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo.

Yin H1, Song CQ2,3, Dorkin JR1,4, Zhu LJ3,5,6, Li Y7, Wu Q1, Park A2, Yang J1, Suresh S1, Bizhanova A2, Gupta A5, Bolukbasi MF5,8, Walsh S1, Bogorad RL1, Gao G9, Weng Z6, Dong Y10, Koteliansky V11,12, Wolfe SA5,8, Langer R1,13,14,15, Xue W2,3,5, Anderson DG1,13,14,15.
Nature biotechnology.Nat Biotechnol.2016 Mar;34(3):328-33. doi: 10.1038/nbt.3471. Epub 2016 Feb 1.
The combination of Cas9, guide RNA and repair template DNA can induce precise gene editing and the correction of genetic diseases in adult mammals. However, clinical implementation of this technology requires safe and effective delivery of all of these components into the nuclei of the target tissue
PMID 26829318

畑郁江,重松陽介
日本マス・スクリーニング学会誌 = Journal of Japanese Society for Mass-screening 15(3), 27-31, 2005-12-01
NAID 10020471974

畑郁江,重松陽介
日本マス・スクリーニング学会誌 = Journal of Japanese Society for Mass-screening 15(2), 59, 2005-09-27
NAID 10020472116

Determination of urinary succinylacetone by capillary electrophoresis for the diagnosis of tyrosinemia type I

CANSEVER M. Serif,ERIM F. Bedia
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 818(2), 309-311, 2005-04-25
NAID 10016980925