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1.
S B Singaevski? S V Grishakov L D Tsvetkova S N Shnitko V A Starikov V I Buravtsov 《Vestnik khirurgii imeni I. I. Grekova》1992,148(5):154-158
Results of a complex clinico-functional examination of 48 patients after resection for lung cancer 8-10 years ago are presented. The satisfactory pumping function of the heart was revealed with practically normal volumes of the cardiac output. Among patients subjected to resection of a lobe of the lung two groups were determined: with relatively satisfactory parameters of the function of external respiration and blood circulation and with a pronounced degree of strain of the functioning of these systems. 相似文献
2.
Oscillatory motion of the normal cervical spinal cord 总被引:2,自引:0,他引:2
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Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations 总被引:9,自引:1,他引:9
Meyer J; Sudbeck P; Held M; Wagner T; Schmitz ML; Bricarelli FD; Eggermont E; Friedrich U; Haas OA; Kobelt A; Leroy JG; Van Maldergem L; Michel E; Mitulla B; Pfeiffer RA; Schinzel A; Schmidt H; Scherer G 《Human molecular genetics》1997,6(1):91-98
It has previously been shown that, in the heterozygous state, mutations in
the SOX9 gene cause campomelic dysplasia (CD) and the often associated
autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one
recurrent mutation were characterized in one SOX9 allele each, and in one
case, no mutation was found. Four missense mutations are all located within
the high mobility group (HMG) domain. They either reduce or abolish the
DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense
and three frameshift mutations identified, two leave the C-terminal
transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or
almost completely intact. When tested in cell transfection experiments, the
recurrent nonsense mutation Y440X, found in two patients who survived for
four and more than 9 years, respectively, exhibits some residual
transactivation ability. In contrast, a frameshift mutation extending the
protein by 70 residues at codon 507, found in a patient who died shortly
after birth, showed no transactivation. This is apparently due to
instability of the mutant SOX9 protein as demonstrated by Western blotting.
Amino acid substitutions and nonsense mutations are found in patients with
and without XY sex reversal, indicating that sex reversal in CD is subject
to variable penetrance. Finally, none of 18 female patients with XY gonadal
dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP
assays, providing evidence that SOX9 mutations do not usually result in XY
sex reversal without skeletal malformations.
相似文献
6.
I. V. Gar'kavtsev T. G. Tsvetkova S. M. Terekhov I. A. Aleksandrov S. P. Mitkevich 《Bulletin of experimental biology and medicine》1989,108(4):1481-1484
Institute of Medical Genetics, Academy of Medical Sciences of the USSR, Moscow. All-Union Mental Health Research Center, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR N. P. Bochkov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 108, No. 10, pp. 479–481. October, 1989. 相似文献
7.
Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse 总被引:1,自引:3,他引:1
8.
Colorectal cancer is the fourth commonest cancer worldwide. The survival rate is suboptimal for patients with metastatic disease. The introduction of anti-epidermal growth factor receptor (EGFR) antibodies has remarkably improved clinical outcomes. Two monoclonal antibodies targeting EGFR and one multikinase inhibitor have been approved by the FDA and Health Canada for the treatment of metastatic colorectal cancer; however, only about 10 % of patients respond to this treatment. Having wild-type KRAS is necessary but not sufficient to derive benefit from EGFR inhibition. Interestingly, patients with certain mutations such as p.G13D represent a cetuximab-sensitive subtype of KRAS mutant metastatic colorectal cancer. A few biomarkers have been identified, but we still do not know the best way to administer drugs. In this article we review the clinical data and expert opinions and summarize the recommendations. 相似文献
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10.
PO Ajiboye OA Abiodun MF Tunde-Ayinmode OIN Buhari EO Sanya KW Wahab 《African health sciences》2013,13(3):624-631