共查询到17条相似文献,搜索用时 0 毫秒
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Li Ning Arthur J. Moss Wojciech Zareba Jennifer Robinson Spencer Rosero Dan Ryan Ming Qi 《Annals of noninvasive electrocardiology》2003,8(3):246-250
Background: The Jervell and Lange‐Nielsen syndrome (JLNS) is the autosomal recessive form of long QT syndrome (LQTS)—a familial cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. JLNS is associated with sensorineural deafness and has been shown to occur with homozygous mutations in KCNQ1 or KCNE1 in JLNS families in which QTc prolongation is inherited as a dominant trait. This study investigated the molecular pathology of a family with clinical evidence of JLNS. Methods and Results: Single‐strand conformation polymorphism, denaturing high performance liquid chromatography, and DNA sequencing analyses were used to screen for KCNQ1 mutations. Novel compound heterozygous nonsense mutations R518X/Q530X in the C‐terminus of KCNQ1 were identified in both affected dizygotic twins; both the parents and a sibling each carried only one of the mutant alleles and were asymptomatic with modestly prolonged QTc intervals (0.46, 0.50, and 0.45 seconds, respectively). These two nonsense mutations lead to premature termination of C‐terminus with truncation of the postulated assembly domain. Conclusion: Novel compound heterozygous nonsense mutations in C‐terminus of KCNQ1 can cause JLNS. A.N.E 2003;8(3):246‐250 相似文献
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Wang L Ogawa S Hangaishi A Qiao Y Hosoya N Nanya Y Ohyashiki K Mizoguchi H Hirai H 《Blood》2003,102(7):2597-2604
An unbalanced translocation der(1;7)(q10; p10) is a nonrandom chromosomal aberration commonly observed in myelodysplastic syndrome and acute myeloid leukemia. We molecularly analyzed the breakpoints of der(1;7)(q10;p10) by quantitative fluorescent in situ hybridization (FISH) analyses using centromeric satellite DNAs mapped to chromosomes 1 and 7 as probes. We found that the signal intensities of 2 centromere alphoid probes, D1Z7 on chromosome 1 and D7Z1 on chromosome 7, were almost invariably reduced on the derivative chromosome compared with those on their normal counterparts. These results suggest that this translocation results from the recombination between the 2 alphoids, which was further confirmed by fiber FISH experiments. Because the relative reduction in the intensities of D1Z7 and D7Z1 signals on the derivative chromosomes was highly variable among patients, it was estimated that the breakpoints in these patients were randomly distributed over several megabase pairs within each alphoid cluster except for its extreme end to the short arm. Our results provide a novel insight into the structural basis for generation of this translocation as well as its leukemogenic roles. 相似文献
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A Novel Chromosomal Translocation t(4; 14)(p16.3; q32) in Multiple Myeloma Involves the Fibroblast Growth-Factor Receptor 3Gene 总被引:15,自引:1,他引:14
Richelda Raffaella; Ronchetti Domenica; Baldini Luca; Cro Lilla; Viggiano Luigi; Marzella Rosalia; Rocchi Mariano; Otsuki Takemi; Lombardi Luigia; Maiolo Anna Teresa; Neri Antonino 《Blood》1997,90(10):4062-4070
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Anna Koslov Pavel Trefil Jitka Mucksov Veronika Krchlíkov Jií Plachý Jakub Krijt Markta Reiniov Dana Ku
erov Josef Geryk Jií Kalina Filip enigl Daniel Elleder Viktor Koich Jií Hejnar 《Viruses》2021,13(12)
The chicken Tva cell surface protein, a member of the low-density lipoprotein receptor family, has been identified as an entry receptor for avian leukosis virus of classic subgroup A and newly emerging subgroup K. Because both viruses represent an important concern for the poultry industry, we introduced a frame-shifting deletion into the chicken tva locus with the aim of knocking-out Tva expression and creating a virus-resistant chicken line. The tva knock-out was prepared by CRISPR/Cas9 gene editing in chicken primordial germ cells and orthotopic transplantation of edited cells into the testes of sterilized recipient roosters. The resulting tva −/− chickens tested fully resistant to avian leukosis virus subgroups A and K, both in in vitro and in vivo assays, in contrast to their susceptible tva +/+ and tva +/− siblings. We also found a specific disorder of the cobalamin/vitamin B12 metabolism in the tva knock-out chickens, which is in accordance with the recently recognized physiological function of Tva as a receptor for cobalamin in complex with transcobalamin transporter. Last but not least, we bring a new example of the de novo resistance created by CRISPR/Cas9 editing of pathogen dependence genes in farm animals and, furthermore, a new example of gene editing in chicken. 相似文献
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Shoichiro Kanazawa M.D. Barry Herzlich M.D. Victor Herbert M.D. J.D. 《The American journal of gastroenterology》1985,80(12):964-969
The effect of human bile on the binding of free cobalamin (Cbl) and of intrinsic factor-Cbl (IF-Cbl) complexes to intestine receptors was examined in in vitro receptor extracts made from guinea pig small bowel epithelial cells. Cbl and IF-Cbl complex binding to the receptors was measured in the effluent from a Sephadex G-200 column. Intrinsic factor-Cbl binding to the receptors in the control samples was 4.32 +/- 0.07 ng/animal (mean +/- SEM); addition of bile, saturated with excess 57Co-Cbl enhanced binding to 5.26 +/- 0.16 ng/animal (p less than 0.001). These data suggest that bile enhances binding of IF-Cbl complex onto ileal receptors. Whether bile also serves as "releasing factor" by releasing Cbl from intrinsic factor in vivo remains to be determined. 相似文献
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Still Ivan H.; Chernova Olga; Hurd David; Stone Richard M.; Cowell John K. 《Blood》1997,90(8):3136-3141
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To get insight into the regulation of human interleukin-12 (IL-12) synthesis, we determined the chromatin organization of the IL-12(p35) promoter region. First, we determined positioning of nucleosomes within the IL-12(p35) promoter using the indirect end-labeling technique in the THP-1 monocytic cell line. On stimulation with bacterial lipopolysaccharide (LPS) and interferon-gamma (IFN-gamma), hypersensitivity to digestion with DNase I, micrococcal nuclease, and specific restriction enzymes was detected in the region encompassing nucleotide (nt) -310 to -160, indicating selective inducible chromatin remodeling involving disruption of a single nucleosome (named nuc-2). Using p35 promoter deletion mutants and reporter gene assays, we demonstrated that the -396/-241 region contained critical cis-acting elements. Within this latter region, we characterized physically and functionally 2 Sp1-binding sites, which were acting as key regulatory elements for both basal and LPS/IFN-gamma-inducible p35 gene expression: Sp1#1 lies within the remodeled nuc-2 region and Sp1#2 is located in the nucleosome-free region immediately upstream of nuc-2. Finally, we extended the chromatin structure analysis to dendritic cells (DCs) derived from human monocytes and observed the same nucleosomal organization and remodeling as in the THP-1 cell line. Moreover, we found that in DCs, LPS and IFN-gamma synergized in the induction of nucleosomal remodeling and that chromatin remodeling at the p35 locus immediately preceded IL-12(p35) mRNA synthesis. Taken together, our results demonstrate that IL-12(p35) gene activation in the course of DC maturation involves selective and rapid remodeling of a single positioned nucleosome within a region of the promoter containing critical Sp1-binding sites. 相似文献
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Consistent Fusion of ZNF198 to the Fibroblast Growth Factor Receptor-1 in the t(8;13)(p11;q12) Myeloproliferative Syndrome 总被引:9,自引:3,他引:6
Reiter Andreas; Sohal Jastinder; Kulkarni Shashikant; Chase Andrew; Macdonald Donald H.C.; Aguiar Ricardo C.T.; Goncalves Cristina; Hernandez Jesus M.; Jennings Barbara A.; Goldman John M.; Cross Nicholas C.P. 《Blood》1998,92(5):1735-1742
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Nurdan iftci Leman Kaya Emine amtosun Ayehan Aknc 《Journal of clinical research in pediatric endocrinology》2022,14(2):233
The enzyme 17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) catalyzes the biosynthesis of testosterone (T) from Δ4- androstenedione, and plays an important role in the final steps of androgen synthesis. 17β-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessive 46,XY sex developmental disorder (DSD). Patients with 46,XY karyotype can exhibit a wide phenotypic spectrum, varying from complete external female genitalia to male genitalia with hypospadias. Here we report a case of 17β-HSD3 deficiency diagnosed in the infantile period who was later found to have a novel HSD17B3 gene variation. The 14-month old patient, who exhibited a female phenotype, presented with a bilateral lump in the inguinal area. Imaging revealed bilateral testicular gonads in the inguinal area. Hormonal evaluation showed low levels of basal and stimulated serum T, a high level of androstenedione (A), and a low T/A ratio. Chromosomal analysis showed 46,XY karyotype. Sequence analysis of the HSD17B3 gene revealed a c.673_1G>C homozygous class 2 (splice site) variation in intron 9. The consanguineous parents were sequenced, and both were heterozygous for the same mutation. This variation has not been previously reported in the literature. In conclusion, a 46,XY DSD should be considered in patients with a female phenotype who exhibit gonad(s) in the inguinal area at an early age. Furthermore, in patients with insufficient T synthesis and high levels of androstenedione, 17β-HSD3 should be considered, and molecular analysis should be done for a definitive diagnosis and subsequent genetic counseling. 相似文献
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Multicenter prospective study to optimize the efficacy of triple therapy with telaprevir in patients with genotype 1b hepatitis C virus infection according to an algorithm based on the drug Adherence,IL‐28B Gene Allele and Viral Response Trial (AG & RGT) 下载免费PDF全文
Kayoko Sugawara Youhei Koushima Mie Inao Nobuaki Nakayama Sumiko Nagoshi Koji Yakabi Masaya Tamano Shinichi Asabe Ko Nishikawa Youji Harada Chuichi Sekine Yuji Fukuya Junji Funyu Yoshiaki Hashimoto Satoshi Mochida 《Hepatology research》2015,45(11):1091-1099
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Boucher BJ 《Diabetologia》2004,47(10):1858; author reply 1859