排序方式: 共有7条查询结果,搜索用时 46 毫秒
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Walder RY Landau D Meyer P Shalev H Tsolia M Borochowitz Z Boettger MB Beck GE Englehardt RK Carmi R Sheffield VC 《Nature genetics》2002,31(2):171-174
Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion. 相似文献
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Mary F. Argus J. C. Arcos J. A. Walder 《Cellular and molecular life sciences : CMLS》1962,18(11):519-521
Résumé La combinaison des substrats — acides pyruvique et fumarique — inhibent le gonflement de mitochondries isolées du coeur de rat, en accord avec le maintien de l'intégrité de la structure mitochondriale par l'adénosine triphosphate produite. On constate la diminution successive de cette inhibition dans des rats déficients en thiamine, par suite du blocage au niveau de la décarboxylation pyruvique. De plus cette carence vitaminique provoque une décroissance graduelle du nombre des mitochondries dans le tissu cardiaque.
Supported by the Grants H-4012 from the National Heart Institute and K62-3 from the Hospital Division, U.S. Public Health Service. We thank MissV. Meyer for the heart size deteminations. 相似文献
Supported by the Grants H-4012 from the National Heart Institute and K62-3 from the Hospital Division, U.S. Public Health Service. We thank MissV. Meyer for the heart size deteminations. 相似文献
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Curran JE Jowett JB Elliott KS Gao Y Gluschenko K Wang J Abel Azim DM Cai G Mahaney MC Comuzzie AG Dyer TD Walder KR Zimmet P MacCluer JW Collier GR Kissebah AH Blangero J 《Nature genetics》2005,37(11):1234-1241
Chronic inflammation has a pathological role in many common diseases and is influenced by both genetic and environmental factors. Here we assess the role of genetic variation in selenoprotein S (SEPS1, also called SELS or SELENOS), a gene involved in stress response in the endoplasmic reticulum and inflammation control. After resequencing SEPS1, we genotyped 13 SNPs in 522 individuals from 92 families. As inflammation biomarkers, we measured plasma levels of IL-6, IL-1beta and TNF-alpha. Bayesian quantitative trait nucleotide analysis identified associations between SEPS1 polymorphisms and all three proinflammatory cytokines. One promoter variant, -105G --> A, showed strong evidence for an association with each cytokine (multivariate P = 0.0000002). Functional analysis of this polymorphism showed that the A variant significantly impaired SEPS1 expression after exposure to endoplasmic reticulum stress agents (P = 0.00006). Furthermore, suppression of SEPS1 by short interfering RNA in macrophage cells increased the release of IL-6 and TNF-alpha. To investigate further the significance of the observed associations, we genotyped -105G --> A in 419 Mexican American individuals from 23 families for replication. This analysis confirmed a significant association with both TNF-alpha (P = 0.0049) and IL-1beta (P = 0.0101). These results provide a direct mechanistic link between SEPS1 and the production of inflammatory cytokines and suggest that SEPS1 has a role in mediating inflammation. 相似文献
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Lennart Zabeau Cathy J. Jensen Sylvie Seeuws Koen Venken Annick Verhee Dominiek Catteeuw Geert van Loo Hui Chen Ken Walder Jacob Hollis Simon Foote Margaret J. Morris José Van der Heyden Frank Peelman Brian J. Oldfield Justin P. Rubio Dirk Elewaut Jan Tavernier 《Cellular and molecular life sciences : CMLS》2015,72(3):629-644
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