Zobrazeno 1 - 10
of 18
pro vyhledávání: '"W J, Craigen"'
Autor:
H, Dai, V W, Zhang, A W, El-Hattab, C, Ficicioglu, M, Shinawi, M, Lines, A, Schulze, M, McNutt, G, Gotway, X, Tian, S, Chen, J, Wang, W J, Craigen, L-J, Wong
Publikováno v:
Clinical genetics. 91(4)
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to h
Publikováno v:
Oncogene. 28:3563-3572
Mitochondrial membrane permeabilization is central to apoptotic signaling and is directly regulated by the Bcl-2 family of proteins, consisting of anti-apoptotic members and pro-apoptotic members, although the precise mechanisms involved remain elusi
Publikováno v:
Molecular Microbiology
Summary Peptide chain termination occurs when a stop codon is decoded by a release factor. In Escherichia coli two codon-specific release factors (RF1 and RF2) direct the termination of protein synthesis, while in eukaryotes a single factor is requir
Autor:
M Y Tsai, W J Craigen, A L Beaudet, K M Gibson, B R Powell, M Tuchman, K Johnston, C. F. Lee, R Schwartz, V Kamali
Publikováno v:
Scopus-Elsevier
In this rapid radiochemical assay for 3-hydroxy-3-methylglutaryl-coenzyme A lyase (I) activity in cell extracts, DL-3[glutaryl-3-14C]hydroxy-3-methylglutaryl-coenzyme A is used as substrate and the radiochemical product, [3-14C]acetoacetic acid, is c
Autor:
S A, Yatsenko, A N, Yatsenko, K, Szigeti, W J, Craigen, P, Stankiewicz, S W, Cheung, J R, Lupski
Publikováno v:
Clinical genetics. 66(2)
We present molecular genetic investigations of a 4-year-old boy with craniofacial dysmorphism and developmental delay. Trivial mitral and tricuspid regurgitation without gross structural abnormality was diagnosed by echocardiography. High-resolution
Autor:
M S, van der Knaap, C, Jakobs, G F, Hoffmann, W L, Nyhan, W O, Renier, J A, Smeitink, C E, Catsman-Berrevoets, O, Hjalmarson, H, Vallance, K, Sugita, C M, Bowe, J T, Herrin, W J, Craigen, N R, Buist, D S, Brookfield, R A, Chalmers
Publikováno v:
Annals of neurology. 45(1)
D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxygluta
Publikováno v:
The Journal of biological chemistry. 273(46)
Voltage-dependent anion channels (VDACs) are pore-forming proteins found in the outer mitochondrial membrane of all eucaryotes. VDACs are the major pathway for metabolites through the outer mitochondrial membrane and, in mammals, bind several cytosol
Autor:
C J, Gallione, D J, Klaus, E Y, Yeh, T T, Stenzel, Y, Xue, K B, Anthony, K A, McAllister, M A, Baldwin, J N, Berg, A, Lux, J D, Smith, C P, Vary, W J, Craigen, C J, Westermann, M L, Warner, Y E, Miller, C E, Jackson, A E, Guttmacher, D A, Marchuk
Publikováno v:
Human mutation. 11(4)
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT. Endoglin, a TGF-beta
Publikováno v:
American journal of medical genetics. 72(1)
A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or nor
Publikováno v:
American journal of medical genetics. 71(2)
Schöpf-Schulz-Passarge syndrome is a rare form of ectodermal dysplasia comprising hypotrichosis, hypodontia, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy. To date, ten cases have been reported; all except one are compatible wit