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11.
There is now strong evidence that the chorioretinal degeneration associated with ornithine-delta-aminotransferase (OAT) deficiency is a consequence of hyperornithinemia. Therefore development of a metabolic system for clearing ornithine from the circulation is being pursued as a potential treatment. The skin is considered an attractive location for such a metabolic system because autologous cells can be safely and easily utilized. This study was undertaken to determine the ornithine metabolizing capacity of epidermal keratinocytes expressing normal and superphysiologic amounts of OAT. The data show that overexpression of OAT in keratinocytes cultured from a gyrate atrophy patient restores ornithine metabolism and results in a rate of ornithine disappearance from the medium that is significantly higher than the rate of disappearance from the medium bathing normal keratinocytes. In addition, OAT activity determined in soluble protein prepared from sonicates suggests that the capacity to maintain plasma ornithine within the normal range is contained within an accomplishable graft of keratinocytes overexpressing OAT. However, the actual rate of ornithine disappearance from the media was significantly less than predicted from enzyme activity assays. Following ornithine metabolite production by intact cells suggests that ornithine metabolism is limited primarily by clearance of downstream metabolites, as opposed to substrate delivery. 相似文献
12.
During the early development of skeletal muscle, cardiac isotypes of several contractile proteins are known to be transiently expressed. We report here that skeletal muscle developing in vivo, as well as primary cultures derived from skeletal muscle, express mRNA encoding the cardiac dihydropyridine-sensitive calcium channel. The mRNA is detectable at high concentration at the earliest stage tested in vivo and diminishes rapidly in concentration as myofibers mature. The concentration of the cardiac calcium channel mRNA also diminishes during the in vivo development of skeletal muscle in a genetically paralyzed mouse (mdg), indicating that muscle contractile activity is not necessary for the down-regulation. In contrast, mRNA for the skeletal muscle-specific calcium channel accumulates gradually in developing skeletal muscle. A similar temporal pattern of expression is also seen in primary cultures of skeletal myotubes. These results raise the question of whether the cardiac calcium channel may be functionally important during the early development of skeletal myofibers. 相似文献
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14.
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function 总被引:2,自引:0,他引:2
LS Robbins JH Nadeau KR Johnson MA Kelly L Roselli-Rehfuss E Baack KG Mountjoy RD Cone 《Canadian Metallurgical Quarterly》1993,72(6):827-834
Coat colors in the chestnut horse, the yellow Labrador retriever, the red fox, and one type of yellow mouse are due to recessive alleles at the extension locus. Similarly, dominant alleles at this locus are often responsible for dark coat colors in mammals, such as the melanic form of the leopard, Panthera pardus. We show here that the murine extension locus encodes the melanocyte-stimulating hormone (MSH) receptor. In mice, the recessive yellow allele (e) results from a frameshift that produces a prematurely terminated, nonfunctioning receptor. The sombre (Eso and Eso-3J) and tobacco darkening (Etob) alleles, which both have dominant melanizing effects, results from point mutations that produce hyperactive MSH receptors. The Eso-3J receptor is constitutively activated, while the Etob receptor remains hormone responsive and produces a greater activation of its effector, adenylyl cyclase, than does the wild-type allele. 相似文献
15.
KG Wiese M Korabiowska J Tyrak S Bartkowski J Stypukowska 《Canadian Metallurgical Quarterly》1993,21(4):157-162
The relation between 21 absolute body dimensions as well as 20 anthropometric indices and the length as well as the regularity of the menstrual cycle have been investigated in 156 patients of the hormone ambulance of the I. Universit?ts-Frauenklinik in Vienna. It turned out, that the length as well as the regularity of the menstrual cycle significantly negatively with the amount of the subcutaneous fat tissue. With an increasing amount of adipose tissue, the cycle became shorter and more regular. The importance of the subcutaneous fat tissue as a secondary hormonal gland has been discussed as one cause for these significant connections. Regarding the length- and height dimensions and the menstrual cycle patterns, no statistically significantly relationship could be observed between these two trait system. This is also true for the relationship between body built and the bleeding duration. 相似文献
16.
17.
LG Lee SL Spurgeon CR Heiner SC Benson BB Rosenblum SM Menchen RJ Graham A Constantinescu KG Upadhya JM Cassel 《Canadian Metallurgical Quarterly》1997,25(14):2816-2822
We have synthesized a set of four energy transfer dyes and demonstrated their use in automated DNA sequencing. The donor dyes are the 5- or 6-carboxy isomers of 4'-aminomethylfluorescein and the acceptor dyes are a novel set of four 4,7-dichloro-substituted rhodamine dyes which have narrower emission spectra than the standard, unsubstituted rhodamines. A rigid amino acid linker, 4-aminomethylbenzoic acid, was used to separate the dyes. The brightness of each dye in an automated sequencing instrument equipped with a dual line argon ion laser (488 and 514 nm excitation) was 2-2.5 times greater than the standard dye-primers with a 2 times reduction in multicomponent noise. The overall improvement in signal-to-noise was 4- to 5-fold. The utility of the new dye set was demonstrated by sequencing of a BAC DNA with an 80 kb insert. Measurement of the extinction coefficients and the relative quantum yields of the dichlororhodamine components of the energy transfer dyes showed their values were reduced by 20-25% compared with the dichlororhodamine dyes alone. 相似文献
18.
LA Parada G Bardi M Hallén I H?gerstrand KG Tranberg F Mitelman B Johansson 《Canadian Metallurgical Quarterly》1997,21(11):1381-1386
Hepatoblastomas usually occur in children < 3 years of age, and only occasional adult cases have been described. To date, 20 cytogenetically abnormal childhood hepatoblastomas have been reported. Karyotypic investigations have shown that most hepatoblastomas are diploid or hyperdiploid, often displaying trisomies for chromosomes 2 and 20. We have cytogenetically investigated an adult hepatoblastoma for which no previous karyotypic data exist. A hypertriploid stemline with multiple numerical and structural chromosomal aberrations, including +2 and +20, was found. In addition, the tumor displayed extensive clonal evolution with 11 subclones. Although the tumor thus displayed some chromosomal abnormalities commonly observed in childhood tumors, providing further support for the importance of these abnormalities in the development of hepatoblastoma, the level of genomic complexity seen in the present case has never been described in childhood hepatoblastomas and may suggest a different etiology or pathogenesis. 相似文献
19.
Role of pH and Ionic Strength on Water Relationships in Washed Minced Chicken-breast Muscle Gels 总被引:4,自引:0,他引:4
ABSTRACT The relationship between pH, ionic strength, and water balance of chicken-breast muscle gels was investigated. An increase in gel pH (pH 6.4 to 7.4) without added NaCl led to dramatic increases in water-holding capacity and water uptake (P < 0.05). Gels at 150 mM NaCl exhibited less ability to adsorb water than salt-free gels (P < 0.05 at pH 6.8 to 7.4) and had lower water-holding capacities (P < 0.05) and fold scores at and below pH 7. Varying salt concentration of the gel-bathing solutions had dramatic effect on the water uptake of the gels. The results show that strong water-absorbing gels can be produced at low ionic strengths and suggest that the negative charge of the muscle proteins is the driving force for water uptake and retention. 相似文献
20.
DP Berry KG Harding MR Stanton B Jasani HP Ehrlich 《Canadian Metallurgical Quarterly》1998,102(1):124-31; discussion 132-4
The closure of ungrafted sacrococcygeal pilonidal sinus excisional wounds was studied in 15 patients. Wound punch biopsies were taken on a regular basis, and histologic sections were made. To document changes, computer-assisted morphometric image analysis was employed. Initial average wound depth was 37.8 +/- 4.6 mm, and complete closure (0 wound depth) was reached by 68 days. Wound contraction contributed 88 percent to wound closure, whereas the deposition of scar only contributed 12 percent. Maximum cells density within granulation tissue was reached by day 18. Myofibroblasts, identified by alpha-smooth muscle actin immunostaining, first appeared on day 11. Unlike those observed in laboratory animals, myofibroblasts were a minor cell population of granulation tissue, never exceeding 10 percent of the cells. The pattern of collagen fiber organization was documented by polarized light microscopy of Sirius red-stained sections. Early granulation tissue collagen fibers demonstrated a fine greenish birefringence, whereas more mature granulation tissue collagen fibers were thicker, displaying orange-yellowish birefringence. Myofibroblasts were associated exclusively with thicker collagen fibers, whereas fibroblasts were associated with both fine and thick collagen fibers. It is proposed that human wound contraction involves a volume change whereby normal dermal and adipose tissues are pulled into the defect by forces generated within fibroblasts. 相似文献