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71.
The melanocortin 1 receptor (MC1R) gene is a major determinant of human pigmentation and specific allelic variants have been associated with red hair and sun sensitive skin types as well as increased skin cancer risk in Caucasian individuals. We screened for allelic variants the entire MC1R coding region of 100 unrelated individuals sampled from an Italian population who has darker pigmentary traits than populations analyzed to date. Twenty MC1R variants were identified, eighteen located at non-synonymous sites and two at synonymous sites. We report four novel MC1R allelic variants: C35Y (g.104G>A), V38M (g.112G>A), L44V (g.130C>G) and I120T (g.359T>C). 相似文献
72.
Role of nitric oxide in the biology, physiology and pathophysiology of reproduction 总被引:13,自引:0,他引:13
Following its benchmark discovery, nitric oxide (NO) is nowknown to play important functional roles in a variety of physiologicalsystems. Within the vasculature, NO induces vasodilation, inhibitsplatelet aggregation, prevents neutrophil/platelet adhesionto endothelial cells, inhibits smooth muscle cell proliferationand migration, regulates programmed cell death (apoptosis) andmaintains endothelial cell barrier function. NO generated byneurons acts as a neurotransmitter, whereas NO generated bymacrophages in response to invading microbes acts as an antimicrobialagent. Because neurons, blood vessels and cells of the immunesystem are integral parts of the reproductive organs, and inview of the important functional role that NO plays in thosesystems, it is likely that NO is an important regulator of thebiology and physiology of the reproductive system. Indeed, inthe past 10 years, NO has established itself as a polyvalentmolecule which plays a decisive role in regulating multiplefunctions within the female as well as the male reproductivesystem. This review provides an overview of the role of NO invarious reproductive organs under physiological and pathologicalconditions. 相似文献
73.
We studied a patient with Klippel-Feil anomaly and subclavian steal due to isolation of the right subclavian artery. Other anomalies included hypoplasia of the right clavicle and right vertebral artery, low bifurcation of the left common carotid artery and left choanal atresia. The patient was mentally retarded with corticospinal, cerebellar, and brain stem signs. The entire brain and cervical spinal cord were small; there was no central nervous system malformation, hydrocephalus, or bony impingement on neural structures. Embryologic vascular disorders have been found to be responsible for various congenital systemic and neurologic anomalies such as intestinal atresia and hydranencephaly. Subclavian artery supply disruption sequence has been hypothesized to result in Klippel-Feil, Poland, and M?bius anomalies. In this case the vertebral and facial abnormalities may well be related to anomalous subclavian and carotid supply. An embryonic vascular "steal" has been thought to cause the sirenomelia anomaly. We postulate that the subclavian steal, during the embryonic period, may have been responsible for the small size of this patient's cerebral hemispheres, brain stem, cerebellum, and cervical spinal cord. 相似文献
74.
X-ray determination of crystalline hydroxyapatite to amorphous calcium-phosphate ratio in plasma sprayed coatings 总被引:5,自引:0,他引:5
A method to measure the amorphous calcium phosphate (ACP) content of plasma sprayed hydroxyapatite (HA) coatings is presented. The areas of the crystalline peaks and the broad amorphous "hump" in an X-ray diffraction scan of a mixture of crystalline and amorphous HA can be fitted using conventional nonlinear least-squares methods. The weight fraction of the amorphous component in a mixture of unknown proportions is obtained from the measured hump fraction using a linear expression requiring a single calibration constant. This calibration constant may be determined by applying the same sample preparation, X-ray measurement, and least-squares fitting methods to a single standard of known (weighed) proportions as used to measure the unknown(s). Application of this method to a set of 12 samples yields an "index of crystallinity" for plasma sprayed HA coatings with an estimated standard deviation of 1 wt % ACP across the entire compositional range. 相似文献
75.
Gross W. Heubner K. Hartmann Hallervorden W. Stich Keller H. Pette Just 《Journal of molecular medicine (Berlin, Germany)》1957,35(1):54-56
Ohne Zusammenfassung 相似文献
76.
Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders 总被引:3,自引:2,他引:3
Neri C; Albanese V; Lebre AS; Holbert S; Saada C; Bougueleret L; Meier-Ewert S; Le Gall I; Millasseau P; Bui H; Giudicelli C; Massart C; Guillou S; Gervy P; Poullier E; Rigault P; Weissenbach J; Lennon G; Chumakov I; Dausset J; Lehrach H; Cohen D; Cann HM 《Human molecular genetics》1996,5(7):1001-1009
77.
The postnatal development of the hippocampus of the inbred mice strains BALB/c, C57BL/6, and DBA/2 was studied in organotypic explant cultures using the roller-tube technique. In vivo, mice exhibit strain-specific mossy fiber distribution patterns. As a main result we found, that after cultivation of 3-4 weeks, similar strain-specific patterns became apparent in vitro, as visualized by a modified Timm staining. From this experiment we can conclude that a postnatal extrinsic influence cannot be the cause of the strain-specific hippocampal features. 相似文献
78.
The cauliflower mosaic virus translational transactivator interacts with the 60S ribosomal subunit protein L18 of Arabidopsis thaliana 总被引:2,自引:0,他引:2
The cauliflower mosaic virus (CaMV) open reading frame VI product (P6) is involved in several aspects of the infectious cycle. P6 specifically controls the synthesis of other CaMV proteins by transactivating their expression from the polycistronic 35S RNA. By far-Western assays, we have demonstrated that P6 interacts with proteins from both healthy and CaMV-infected leaves of Arabidopsis thaliana. These proteins are found in ribosome-enriched extracts, suggesting that they participate in the translation process. One of these proteins, identified by microsequencing, corresponds to the 60S ribosomal subunit protein L18 (RPL18). Its cDNA was cloned and expressed in Escherichia coli, and the resulting RPL18 protein was shown to interact with the minimal region required for translational transactivation, designated the miniTAV domain of P6. 相似文献
79.
Glucose Ingestion Attenuates Interleukin-6 Release from Contracting Skeletal Muscle in Humans 总被引:8,自引:1,他引:8
Mark A. Febbraio Adam Steensberg Charlotte Keller Rebecca L. Starkie Henning B. Nielsen Peter Krustrup Peter Ott Niels H. Secher Bente K. Pedersen 《The Journal of physiology》2003,549(2):607-612
To examine whether glucose ingestion during exercise affects the release of interleukin-6 (IL-6) from the contracting limb, seven men performed 120 min of semi-recumbent cycling on two occasions while ingesting either 250 ml of a 6.4 % carbohydrate (GLU trial) or sweet placebo (CON trial) beverage at the onset of, and at 15 min intervals throughout, exercise. Muscle biopsies obtained before and immediately after exercise were analysed for glycogen and IL-6 mRNA expression. Blood samples were simultaneously obtained from a brachial artery and a femoral vein prior to and during exercise and leg blood flow was measured by thermodilution in the femoral vein. Net leg IL-6 release, and net leg glucose and free fatty acid (FFA) uptake, were calculated from these measurements. The arterial IL-6 concentration was lower ( P < 0.05 ) after 120 min of exercise in GLU, but neither intramuscular glycogen nor IL-6 mRNA were different when comparing GLU with CON. However, net leg IL-6 release was attenuated ( P < 0.05 ) in GLU compared with CON. This corresponded with an enhanced ( P < 0.05 ) glucose uptake and a reduced ( P < 0.05 ) FFA uptake in GLU. These results demonstrate that glucose ingestion during exercise attenuates leg IL-6 release but does not decrease intramuscular expression of IL-6 mRNA. 相似文献
80.