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Hoover-Fong, J.,Sobreira, N.,Jurgens, J.,Modaff, P.,Blout, C.,Moser, A.,Kim, O.H.,Cho, T.J.,Cho, S.,Kim, S.,Jin, D.K.,Kitoh, H.,Park, W.Y.,Ling, H.,Hetrick, Kurt N.,Doheny, Kimberly F.,Valle, D.,Pauli University of Chicago Press [etc.] 2014 American journal of human genetics Vol.94 No.1
Spondylometaphyseal dysplasias (SMD) constitute a rare group of bone disorders. Two members of the SMD group have distinctive ophthalmologic manifestations: SMD with cone-rod dystrophy (SMD-CRD; MIM 608940) and axial SMD with retinal degeneration (MIM 602271). Additional features of SMD-CRD include rhizomelia, lower extremity bowing, evolving anterior vertebral protrusions, metaphyseal cupping, and progressive visual impairment with pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. Affected siblings have been described, thus suggesting autosomal recessive inheritance. Here eight individuals from 6 unrelated families with SMD-CRD were submitted to the Baylor-Hopkins Center for Mendelian Genomics (BHCMG). Patients 1, 2, 4-6 (Walters et al, 2004) and 7 (Kitoh et al, 2011) were described previously. Patient 8 has not reached final adult height, but is short for his age (Z=-7.6) with lower extremity bowing and diagnosis of retinal dystrophy affecting both cones and rods made at age 45 months. Using WES and targeted Sanger sequencing, we found 8 rare PCYT1A variants (1 nonsense, 1 frame shifting indel, and 6 missense variants) present either in the homozygous or compound heterozygous state in all 8 individuals. PCYT1A encodes the alpha isoform of an enzyme known as CTP (phosphocholine cytidylytransferase), essential for phosphotidylcholine synthesis. Mutations in genes involved in fatty acid metabolism have been implicated in other dysplasias (e.g. RCDP and Conradi-Hunermann), as well as retinal disease where there are deficient or abnormal fatty acids (e.g. eicosapentanoic and docosahexanoic acid). Further examination of phospholipid metabolism may lead to the genetic etiology of other SMDs, particularly those with ocular manifestations.
Tang, W.K.,Wong, K.B.,Lam, Y.M.,Cha, S.S.,Cheng, C.H.K.,Fong, W.P. North-Holland Pub ; Elsevier Science Ltd 2008 FEBS letters Vol.582 No.20
The crystal structure of seabream antiquitin in complex with the cofactor NAD<SUP>+</SUP> was solved at 2.8A resolution. The mouth of the substrate-binding pocket is guarded by two conserved residues, Glu120 and Arg300. To test the role of these two residues, we have prepared the two mutants E120A and R300A. Our model and kinetics data suggest that antiquitin's specificity towards the substrate α-aminoadipic semialdehyde is contributed mainly by Glu120 which interacts with the α-amino group of the substrate. On the other hand, Arg300 does not have any specific interaction with the α-carboxylate group of the substrate, but is important in maintaining the active site conformation.
Jang, Dae-Sik,Park, Eun-Jung,Kang, Young-Hwa,Su, Bao-Ning,Hawthorne, Michael-E.,Vigo, Jose-Schunke,Graham, James-G.,Cabieses, Fernando,Fong, Harry H.S.,Mehta, Rajendra-G.,Pezzuto, John-M.,Kinghorn, A. The Pharmaceutical Society of Korea 2003 Archives of Pharmacal Research Vol.26 No.8
Activity-guided fractionation of the EtOAc-soluble extract of the whole plants of Sida acuta using a bioassay based on the induction of quinone reductase (OR) in cultured Hepa 1c1c7 mouse hepatoma cells, led to the isolation of ten active compounds of previously known structure, quindolinone (1), cryptolepinone (2), 11-methoxyquindoline (3), N-trans-feruloyltyramine (4), vomifoliol (5), loliolide (6), 4-ketopinoresinol (7), scopoletin (8), evofolin-A (9), and evofolin-B (10), along with five inactive compounds of known structure, ferulic acid, sinapic acid, syringic acid, ($\pm$)-syringaresinol, and vanillic acid. These isolates were identified by physical and spectral data measurement. A new derivative of quindolinone, 5,10-dimethylquindolin-11-one (1a) was synthesized and characterized spectroscopically. Of the active substances, compounds 1-3 and 1a exhibited the most potent QR activity, with observed CD (concentration required to double induction) values ranging from 0.01 to 0.12 $\mu$ g/mL. Six compounds were then evaluated in a mouse mammary organ culture assay, with cryptolepinone (2), N-trans-feruloyltyramine (4), and 5,10-dimethylquindolin-11-one (1a) found to exhibit 83.3, 75.0, and 66.7% inhibition of 7,12-dimethylbenz[a]anthracene-induced preneoplastic lesions, respectively, at a dose of 10 $\mu\textrm{g}$/mL.