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排序方式: 共有349条查询结果,搜索用时 31 毫秒
1.
2.
Oscillatory motion of the normal cervical spinal cord 总被引:2,自引:0,他引:2
3.
4.
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
5.
Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse 总被引:1,自引:3,他引:1
6.
7.
PO Ajiboye OA Abiodun MF Tunde-Ayinmode OIN Buhari EO Sanya KW Wahab 《African health sciences》2013,13(3):624-631
Back ground
Stroke produces a wide range of mental and emotional disorders. Neuropsychiatric complications associated with stroke may have negative effects on the social functioning, overall quality of life and the recovery of motor functioning of stroke survivors.Objective
To determine the prevalence and nature of psychiatric morbidity among stroke patients attending neurology outpatient clinic of the University of Ilorin Teaching Hospital (UITH), Ilorin-Nigeria.Methods
All patients with stroke aged 18 years and above at an outpatient neurology clinic in Ilorin, Nigeria were assessed for mental and emotional disorders using the Schedule for Clinical Assessment in Neuropsychiatry (SCAN) over one year (March 2009 to February 2010).Results
Overall prevalence of psychiatric morbidity was 36.0% (30/83) among 83 patients who constituted the study population. Specific diagnoses recorded were depression (19.2%), generalised anxiety disorder (9.6%), harmful alcohol use (2.4%); dementia, somatoform disorder, phobia and delusional disorder each had a prevalence of 1.2%. Clinical and sociodemographic variables were not significantly associated with psychiatric morbidity.Conclusion
Psychiatric disorders are often associated with stroke. Identifying and treating stroke patients with these psychiatric co-morbidities could thus help to improve the overall quality of life of these patients. 相似文献8.
Dina V. Markovskaya Svetlana V. Cherepanova Evgeny Yu. Gerasimov Angelina V. Zhurenok Aleksandra V. Selivanova Dmitry S. Selishchev Ekaterina A. Kozlova 《RSC advances》2020,10(3):1341
Photocatalysts based on zinc hydroxide and a solid solution of CdS and ZnS were prepared via the precipitation method and used for photocatalytic hydrogen production from aqueous solutions of inorganic (Na2S/Na2SO3) and organic (ethanol) sacrificial agents. The photocatalysts were tested in cyclic experiments for hydrogen evolution and studied using X-ray diffraction (XRD), UV-Vis diffuse reflectance spectroscopy, high-resolution transmission electron microscopy (HRTEM), energy-dispersive X-ray spectroscopy (EDX), and X-ray photoelectron spectroscopy (XPS) techniques. Different transformations of the β-Zn(OH)2 co-catalyst were observed in the presence of inorganic and organic sacrificial agents; namely, ZnS was formed in Na2S/Na2SO3 solution, whereas the formation of ε-Zn(OH)2 was detected in solution with ethanol. The composite Zn(OH)2/Cd1−xZnxS photocatalysts have great potential in various photocatalysis processes (e.g., hydrogen production, CO2 reduction, and the oxidation of organic contaminants) under visible light.The nature of the sacrificial agent affects the transformations of a Zn(OH)2 co-catalyst during photocatalytic hydrogen production. 相似文献
9.
Timofey M. Karnaukhov Grigory B. Veselov Svetlana V. Cherepanova Aleksey A. Vedyagin 《Materials》2022,15(6)
A sol-gel technique was applied to prepare the two-component oxide system Cu-Mg-O, where MgO plays the role of oxide matrix, and CuO is an active chemical looping component. The prepared samples were characterized by scanning electron microscopy, low-temperature nitrogen adsorption, and X-ray diffraction analysis. The reduction behavior of the Cu-Mg-O system was examined in nine consecutive reduction/oxidation cycles. The presence of the MgO matrix was shown to affect the ability of CuO towards reduction and re-oxidation significantly. During the first reduction/oxidation cycle, the main characteristics of the oxide system (particle size, crystallization degree, etc.) undergo noticeable changes. Starting from the third cycle, the system exhibits a stable operation, providing the uptake of similar hydrogen amounts within the same temperature range. Based on the obtained results, the two-component Cu-Mg-O system can be considered as a prospective chemical looping agent. 相似文献
10.
W. Schröder OA Dr. P. Mallmann H. van der Ven K. Diedrich D. Krebs 《Archives of gynecology and obstetrics》1990,248(2):67-74
Summary Using an indirect lymphokin-assay, the leucocyte-migration-inhibition-test (LMI-test), the cellular sensitization of fertile
and infertile patients before and after homologous and heterologous intrauterine insemination (IUI) was investigated. In this
assay several preparations of spermatozoa (“washed”-, “swim-up”- and “pellet”-spermatozoa) in different concentrations (1,
5 and 10×106 sperms/ml culture medium) and seminal plasma were tested as antigen. In all investigated groups a cellular immune response
against spermatic antigen was demonstrable and seemed to be dose dependent. In contrast to fertile women who reacted with
an enhancement of the macrophage migration for low concentrations the same concentration of antigen induced an inhibition
of macrophage migration in fertile patients. For high concentrations of spermatic antigens there was a difference in the intensity
of cell-mediated immune response between fertile and infertile women. Since infertile patients demonstrated an increased level
of cell-mediated immune response it is possible that infertility may be caused by this altered immunological reaction. This
response changes after multiple IUI-treatment and that change might be caused by the high concentration of spermatic antigens
as there was a difference in the intensity of cell-mediated immune response between fertile and infertile women. Since infertile
patients demonstrated an increased level of cell-mediated immune response it is possible that infertility may be caused by
this altered immunological reaction. This response changes after multiple IUI-treatment and that change might be caused by
the high concentration of spermatozoa. The immunological response of infertile patients seems to be similar in those receiving
husband and donor IUI. 相似文献