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61.
62.
Kennedy J Jackson G Ramsden S Taylor J Newman W Wright MJ Donnai D Elles R Briggs MD 《European journal of human genetics : EJHG》2005,13(5):547-555
The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which result in varying degrees of short stature, joint pain and stiffness and often resulting in early onset osteoarthritis. PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene. In a 36-month period, 100 families were screened for a mutation in COMP and we identified disease-causing mutations in 78% of PSACH families and 36% of MED families. Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making. 相似文献
63.
Inge Van de Walle Karen Silence Kevin Budding Liesbeth Van de Ven Kim Dijkxhoorn Elisabeth de Zeeuw Cafer Yildiz Sofie Gabriels Jean-Michel Percier Johanna Wildemann Jan Meeldijk Peter J. Simons Louis Boon Linda Cox Rob Holgate Rolf Urbanus Henny G. Otten Jeanette H.W. Leusen Peter Boross 《The Journal of allergy and clinical immunology》2021,147(4):1420-1429.e7
64.
Entry of genital Chlamydia trachomatis into polarized human epithelial cells. 总被引:3,自引:17,他引:3 下载免费PDF全文
P B Wyrick J Choong C H Davis S T Knight M O Royal A S Maslow C R Bagnell 《Infection and immunity》1989,57(8):2378-2389
To study the initial invasion process(es) of genital chlamydiae, a model system consisting of hormonally maintained primary cultures of human endometrial gland epithelial cells (HEGEC), grown in a polarized orientation on collagen-coated filters, was utilized. After Chlamydia trachomatis inoculation of the apical surface of polarized HEGEC, chlamydiae were readily visualized, by transmission electron microscopy, in coated pits and coated vesicles. This was true for HEGEC maintained in physiologic concentrations of estrogen (proliferative phase) and of estrogen plus progesterone (secretory phase), despite the finding that association of chlamydiae with secretory-phase HEGEC is significantly reduced (P = 0.025; A.S. Maslow, C.H. Davis, J. Choong, and P.B. Wyrick, Am. J. Obstet. Gynecol. 159:1006-1014, 1988). In contrast, chlamydiae were rarely observed in the clathrin-associated structures if the HEGEC were cultured on plastic surfaces. The same pattern of coated pit versus noncoated pit entry was reproducible in HeLa cells. The quantity of coated pits associated with isolated membrane sheets derived from HeLa cells, grown on poly-L-lysine-coated cover slips in medium containing the female hormones, was not significantly different as monitored by radiolabeling studies and by laser scanning microscopy. These data suggest that culture conditions which mimic in vivo cellular organization may enhance entry into coated pits for some obligate intracellular pathogens. 相似文献
65.
Jennifer Knight Barry A. Gusterson Gerard Cowley Paul Monaghan 《Ultrastructural pathology》1984,7(2):133-141
We would like to thank John Ellis for expert photographic assistance, Mervin Jones and Linda Lovell for expert animal husbandry, and Dr. Dorothy Easty for establishing the cell line LICR-LON-HN-5, without which this study would not have been possible.
We report a light microscopic and ultrastructural analysis of the comparative degrees of differentiation seen in keratinocytes derived from the tongue and epidermis with those of a well-differentiated human squamous carcinoma cell line (LICR-LON-HN5). When growing on plastic substrates, all cultures had a similar morphology, with multilayering and the production of cornified envelopes. When cultured on collagen gels the structure was more organized, with keratohyalin granules and keratin whorl formation in both the normal and the malignant cultures. Normal keratinocytes injected into athymic mice produced epidermal cysts, while cells from the cell line produced well-differentiated squamous cell carcinomas, which were partially solid and partially cystic. The tumor was well organized, with identifiable basal cells, spin-ous cells, keratohyalin granules, and a prominent basal lamina at the stromal/epithelial interface. This model is to be developed for comparative studies between normal and malignant cells, with particular reference to basement membrane production and to investigations of the relative importance of extrinsic and intrinsic factors in the control of squamous differentiation. 相似文献
We report a light microscopic and ultrastructural analysis of the comparative degrees of differentiation seen in keratinocytes derived from the tongue and epidermis with those of a well-differentiated human squamous carcinoma cell line (LICR-LON-HN5). When growing on plastic substrates, all cultures had a similar morphology, with multilayering and the production of cornified envelopes. When cultured on collagen gels the structure was more organized, with keratohyalin granules and keratin whorl formation in both the normal and the malignant cultures. Normal keratinocytes injected into athymic mice produced epidermal cysts, while cells from the cell line produced well-differentiated squamous cell carcinomas, which were partially solid and partially cystic. The tumor was well organized, with identifiable basal cells, spin-ous cells, keratohyalin granules, and a prominent basal lamina at the stromal/epithelial interface. This model is to be developed for comparative studies between normal and malignant cells, with particular reference to basement membrane production and to investigations of the relative importance of extrinsic and intrinsic factors in the control of squamous differentiation. 相似文献
66.
Eldeirawi K McConnell R Freels S Persky VW 《The Journal of allergy and clinical immunology》2005,116(1):42-48
BACKGROUND: There are wide global variations in the prevalence of asthma and wheezing. OBJECTIVES: We examined the associations of place of birth with doctor-diagnosed asthma, wheezing in the past 12 months, and other allergic conditions in Mexican American children. METHODS: The study used data on 4121 Mexican American children age 2 months to 16 years who participated in the Third National Health and Nutrition Examination Survey. RESULTS: The risk of asthma was associated with being born in the United States after adjusting for sex, age, history of ear infection, and having a regular place for health care (odds ratio, 2.19; 95% CI, 1.09-4.40). Among children with no previous history of ear infection, US-born children were more likely to report wheezing in the past 12 months than their peers born in Mexico after controlling for confounding variables (odds ratio, 2.05; 95% CI, 1.09-3.87). Mexican American children born in the United States were more likely to have positive skin reaction to cat, house mite, Alternaria alternata , peanut, Bermuda grass, and short ragweed but were less likely to have a positive skin test to German cockroaches after adjusting for sex, age, ear infection, having a regular place for health care, and area of residence. CONCLUSION: Our study indicated significant associations of place of birth with respiratory symptoms and allergic conditions in Mexican American children. These findings highlight the need for further studies to examine environmental factors that change by migration and explain the observed differential in the risk of asthma or wheezing. 相似文献
67.
Anopheles quadrimaculatus and Aedes aegypti (Black-eyed Liverpool strain) were fed on jirds and nude mice (jird-jird infection, jird-mouse infection, and mouse-jird infection) infected with subperiodic Brugia malayi and B. pahangi. Microfilariae of B. malayi from jird-mouse and mouse-jird infections developed normally in An. quadrimaculatus, whereas those from jird-jird infections did not develop. Microfilariae of both species from jirds and nude mice developed normally in Ae. aegypti and those of B. pahangi developed normally in An. quadrimaculatus. It is suggested that microfilariae from nude mice are modified physiologically, immunologically, or both so that they can develop in refractory An. quadrimaculatus, thus indicating that susceptibility and refractoriness of An. quadrimaculatus to B. malayi also is influenced by factors relating to the vertebrate host in addition to mosquito genetic factors. 相似文献
68.
69.
Barber Cassandra Burgess Raquel Mountjoy Margo Whyte Rob Vanstone Meredith Grierson Lawrence 《Advances in health sciences education : theory and practice》2022,27(2):475-489
Advances in Health Sciences Education - This study examines the way in which student characteristics and pre-admissions measures are statistically associated with the likelihood a student will... 相似文献
70.
Anselmi Laura Lau Yiu-Shing Sutton Matt Everton Anna Shaw Rob Lorrimer Stephen 《The European journal of health economics》2022,23(1):133-151
The European Journal of Health Economics - Risk-adjustment models are used to predict the cost of care for patients based on their observable characteristics, and to derive efficient and equitable... 相似文献