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排序方式: 共有230条查询结果,搜索用时 209 毫秒
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Vertebrate development: genes and segmentation 总被引:1,自引:0,他引:1
204.
Deletion mapping of the t complex of chromosome 17 of the mouse 总被引:3,自引:0,他引:3
205.
Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension 总被引:22,自引:0,他引:22
Barroso I Gurnell M Crowley VE Agostini M Schwabe JW Soos MA Maslen GL Williams TD Lewis H Schafer AJ Chatterjee VK O'Rahilly S 《Nature》1999,402(6764):880-883
206.
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy 总被引:20,自引:0,他引:20
Strømme P Mangelsdorf ME Shaw MA Lower KM Lewis SM Bruyere H Lütcherath V Gedeon AK Wallace RH Scheffer IE Turner G Partington M Frints SG Fryns JP Sutherland GR Mulley JC Gécz J 《Nature genetics》2002,30(4):441-445
Mental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily genetic, major advances have been made in unraveling their molecular basis. The human X chromosome alone is estimated to harbor more than 100 genes that, when mutated, cause mental retardation. At least eight autosomal genes involved in idiopathic epilepsy have been identified, and many more have been implicated in conditions where epilepsy is a feature. We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia. Two recurrent mutations, present in seven families, result in expansion of polyalanine tracts of the ARX protein. These probably cause protein aggregation, similar to other polyalanine and polyglutamine disorders. In addition, we have identified a missense mutation within the ARX homeodomain and a truncation mutation. Thus, it would seem that mutation of ARX is a major contributor to X-linked mental retardation and epilepsy. 相似文献
207.
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation 总被引:1,自引:0,他引:1
Meloni I Muscettola M Raynaud M Longo I Bruttini M Moizard MP Gomot M Chelly J des Portes V Fryns JP Ropers HH Magi B Bellan C Volpi N Yntema HG Lewis SE Schaffer JE Renieri A 《Nature genetics》2002,30(4):436-440
X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities, owing to mutations in a gene on the X chromosome. The latest XLMR update lists up to 136 conditions leading to 'syndromic', or 'specific', mental retardation (MRXS) and 66 entries leading to 'nonspecific' mental retardation (MRX). For 9 of the 66 MRX entries, the causative gene has been identified. Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by Alport syndrome (ATS) and mental retardation (MR), indicated Xq22.3 as a region containing one mental retardation gene. Comparing the extent of deletion between individuals with ATS-MR and individuals with ATS alone allowed us to define a critical region for mental retardation of approximately 380 kb, containing four genes. Here we report the identification of two point mutations, one missense and one splice-site change, in the gene FACL4 in two families with nonspecific mental retardation. Analysis of enzymatic activity in lymphoblastoid cell lines from affected individuals of both families revealed low levels compared with normal cells, indicating that both mutations are null mutations. All carrier females with either point mutations or genomic deletions in FACL4 showed a completely skewed X-inactivation, suggesting that the gene influences survival advantage. FACL4 is the first gene shown to be involved in nonspecific mental retardation and fatty-acid metabolism. 相似文献
208.
Gilman AG Simon MI Bourne HR Harris BA Long R Ross EM Stull JT Taussig R Bourne HR Arkin AP Cobb MH Cyster JG Devreotes PN Ferrell JE Fruman D Gold M Weiss A Stull JT Berridge MJ Cantley LC Catterall WA Coughlin SR Olson EN Smith TF Brugge JS Botstein D Dixon JE Hunter T Lefkowitz RJ Pawson AJ Sternberg PW Varmus H Subramaniam S Sinkovits RS Li J Mock D Ning Y Saunders B Sternweis PC Hilgemann D Scheuermann RH DeCamp D Hsueh R Lin KM Ni Y Seaman WE Simpson PC O'Connell TD Roach T Simon MI 《Nature》2002,420(6916):703-706
The Alliance for Cellular Signaling is a large-scale collaboration designed to answer global questions about signalling networks. Pathways will be studied intensively in two cells--B lymphocytes (the cells of the immune system) and cardiac myocytes--to facilitate quantitative modelling. One goal is to catalyse complementary research in individual laboratories; to facilitate this, all alliance data are freely available for use by the entire research community. 相似文献
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Mistranslation and ageing in Neurospora 总被引:11,自引:0,他引:11