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111.
PD Dr. R.C. Betz 《Medizinische Genetik》2009,21(4):505-510
The monogenic inherited isolated alopecias comprise a group of clinically and genetically heterogeneous forms of hairlessness or hair loss. Clinical classification of the isolated alopecias is based on the onset of the disorder, the regions affected, and the structure of the hair shaft. Men and women are equally affected, and the mode of inheritance is autosomal dominant or autosomal recessive. Since the identification of the keratin gene KRT86 as a cause of the so-called monilethrix in 1997, mutations in nine other genes have been identified for various isolated alopecias. These include other keratin genes for monilethrix (KRT81 and KRT83), the hairless gene for atrichia congenita/papular atrichia, the corneodesmosin gene for the autosomal dominant form of hypotrichosis simplex, and the genes desmoglein 4, lipase H, and the G-protein-coupled receptor P2RY5 (LPAR6) for the autosomal recessive forms of hypotrichosis. Molecular genetic and pathophysiological studies of these rare disorders of hair development have contributed significantly to our understanding of the basic mechanisms of hair loss as well as the physiological mechanisms of hair growth. 相似文献
112.
AC Martin IA Laing G Zhang S Brennan K Winfield PD Sly SM Stick J Goldblatt PN LeSouef 《Respiratory research》2005,6(1):1-4
Early acquisition of Pseudomonas aeruginosa is associated with a poorer prognosis in patients with cystic fibrosis. We investigated whether polymorphisms in CD14, the lipopolysaccharide receptor, increase the risk of early infection. Forty-five children with cystic fibrosis were investigated with annual bronchoalveolar lavage (BAL) and plasma sCD14 levels. Plasma sCD14 levels were significantly lower in children from whom P.aeruginosa was subsequently isolated (492.75 μg/ml vs. 1339.43 μg/ml, p = 0.018). Those with the CD14 -159CC genotype had a significantly increased risk of early infection with P.aeruginosa suggesting that CD14 C-159T plays a role in determining the risk of early infection with P.aeruginosa. 相似文献
113.
PD Dr. M.J. Koch 《Medizinische Genetik》2007,19(4):392-398
Dental development takes place in stages over a long period of time. From the 6ths embryonal week, when the dental lamina develops, tooth number and shape are formed, followed by the production of dental hard tissues. Genetic dental developmental defects are not rare. Mostly these defects affect the tooth number, predominantly resulting in a decrease tooth number (hypodontia) which can occur isolated or as a finding in genetic syndromes such as Rieger syndrome, Witkop syndrome or several ectodermal dysplasias. Genetic defects of dental hard tissues are less frequent, different types of isolated enamel defects (amelogenesis imperfecta) are known. Dentinogenesis imperfecta or other dentinal defects are either caused by different mutations of the DSPP gene or a part of osteogenesis imperfecta. 相似文献
114.
Robert E. Hoagland C. Douglas Boyette Hamed K. Abbas 《Biocontrol Science and Technology》2007,17(7):721-731
The fungus Myrothecium verrucaria (MV) has previously been shown to have potential as a bioherbicide for kudzu (Pueraria lobata) control. It has also been shown that MV wild-type (MV-wt) often forms sectors, when grown on various nutrient media. Experiments compared MV-wt and MV sector efficacy when grown on agar or on rice grains. In greenhouse evaluations of sectors, applied as foliar sprays in water or in other formulations (corn oil, surfactant, and corn oil plus surfactant) for efficacy against kudzu seedlings, some sectors possessed bioherbicidal activity equal that of MV-wt, but others exhibited lower activity. Without a dew period, aqueous formulations of MV-wt, a yellow sector, and a white sector provided zero control, but all three isolates were active without a dew period when formulated in corn oil, Silwet L-77 surfactant, and in surfactant plus corn oil. Generally, the yellow sector was less effective than the other two isolates in any formulations, and the MV-wt and white sector provided approximately 100% mortality of the test plants. Dew (10 h) increased weed control to 100, 33, and 65%, respectively, for MV-wt, the yellow sector and the white sector. All isolates provided nearly 100% control in the oil and surfactant formulations with a dew period compared to treatments receiving no dew. Soil incorporation studies were also performed to compare MV-wt efficacy of preparations grown on agar versus growth on rice grains. Higher efficacies (1.75-3.3-fold increase) were obtained from rice grain preparations compared to preparations grown on agar, when preparations were incorporated at several rates into soil prior to planting. Cell-free extracts of the MV-rice cultures were also phytotoxic to kudzu seedlings up to the eight- to 10-leaf growth stage. Thus, formulation, growth media, and the application method are important determinants in the efficacy of MV and MV sectors on kudzu seedlings. 相似文献
115.
Hoagland TA Mannen KA Dinger JE Ott KM Woody CO Riesen JW Daniels W 《Theriogenology》1986,26(4):407-418
The endocrine control of compensatory hypertrophy was investigated in 12 Morgan stallions, four each at one, two and three years of age. Half were assigned to be unilaterally castrated (UC) in January and half to remain intact (IN). Nine blood samples were taken from each stallion at half-hour intervals 30, 90, and 150 d after unilateral castration for radioimmunoassay of serum concentrations of luteinizing hormone (LH), follicle stimulating hormone (FSH), and testosterone. Mean serum LH concentration was greater (P<0.06) in UC than IN stallions; however, the difference was greatest at 30 d and least at 150 d. Serum LH was greater (P<0.01) in two- and three-year-olds than in one-year-olds. The mean log(10) for serum FSH concentration was greater (P<0.06) in UC than IN stallions. Mean serum testosterone concentrations were similar in UC and IN stallions for all sample days, suggesting that the single testes of the UC stallions produced as much testosterone as the two testes of the IN stallions. Two- and three-year-old stallions had greater (P<0.01) serum testosterone than one-year-old stallions. Unilateral castration of stallions was associated with a significant increase in serum LH and FSH concentrations and, perhaps, higher intratesticular testosterone, which may explain, in part, the compensatory hypertrophy noted in the remaining testis. 相似文献
116.
The Public Land Survey (PLS) witness tree data provide one of the few quantitative data sets of pre-and early-European settlement
composition and structure of the forests and woodlands in the western United States. However, quantifying the areal extent
of individual woody species from PLS records has proven difficult due to the coarse sampling structure of the data. Several
attempts have been made to convert the discrete PLS witness tree data into continuous distributions through the use of various
interpolation techniques. While these methods may adequately represent the spatial patterns of individual species over large
areas, they fail to consider the numerous environmental covariates that can influence the distribution of individual tree
species at finer scales. A more statistically rigorous method calls for combining species–environment relationships to estimate
the areal extent of individual species from point data. In this study, we utilize weights-of-evidence (WofE), a discrete multivariate
method, to estimate the probable historical distribution of six important woody plant taxa of the cross timbers of south-central
Oklahoma. We successfully created posterior probability distribution maps for Quercus stellata, Q. marilandica, Q. velutina, Carya texana, C. illinoinensis, and Juniperus spp. Each posterior probability map was classified into four predictive categories, thereby enabling better estimations of
the historical distribution of individual taxon from coarse-resolution PLS data. Model validation indicated that the WofE
method effectively estimated the posterior probabilities of all taxa under consideration. 相似文献
117.
PD Dr. P.N. Robinson M. Arslan-Kirchner P. Gehle J. Schmidtke Prof. Dr. Y. von Kodolitsch 《Medizinische Genetik》2011,23(3):407-420
Marfan syndrome (MFS) is an autosomal dominant, pleiotropic disease of the connective tissue with a prevalence of about 1 in 5000 persons. MFS is characterized by manifestations in the cardiovascular system, eye, skeleton, lung, skin, and dura mater that show a high degree of intra- and interfamilial variability. Many manifestations develop during or shortly before puberty; severe complications rarely occur before adulthood. Many patients with MFS display a so-called marfanoid habitus with tall stature, dolichostenomelia (long, narrow extremities), dolichocephaly (disproportionately long and narrow head), as well as other skeletal abnormalities such as scoliosis and pes planus. Scoliosis occurs in approximately 60% of those affected, pectus deformities in up to two thirds. Ectopia lentis is seen in many patients with MFS and is almost always bilateral. MFS is characterized by a high risk for complications such as severe scoliosis or pectus deformities, spontaneous pneumothorax, retinal detachment, or glaucoma secondary to lens luxation. The most severe complications occur in the cardiovascular system, including in particular acute dissection of the ascending aorta, which generally follows a long period of progressive aortic dilatation. Before the introduction of modern treatment modalities, the average life expectancy of persons with MFS was estimated to be 32 years. Today, with medical care in multidisciplinary centers, an average life expectancy of over 60 years can be achieved. This article offers a review of established and novel concepts for the diagnosis and treatment of MFS and other hereditary diseases of the aorta. 相似文献
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