排序方式: 共有65条查询结果,搜索用时 15 毫秒
61.
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy 总被引:25,自引:0,他引:25
Evgrafov OV Mersiyanova I Irobi J Van Den Bosch L Dierick I Leung CL Schagina O Verpoorten N Van Impe K Fedotov V Dadali E Auer-Grumbach M Windpassinger C Wagner K Mitrovic Z Hilton-Jones D Talbot K Martin JJ Vasserman N Tverskaya S Polyakov A Liem RK Gettemans J Robberecht W De Jonghe P Timmerman V 《Nature genetics》2004,36(6):602-606
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disease and is characterized by considerable clinical and genetic heterogeneity. We previously reported a Russian family with autosomal dominant axonal CMT and assigned the locus underlying the disease (CMT2F; OMIM 606595) to chromosome 7q11-q21 (ref. 2). Here we report a missense mutation in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1, also called HSP27) that segregates in the family with CMT2F. Screening for mutations in HSPB1 in 301 individuals with CMT and 115 individuals with distal hereditary motor neuropathies (distal HMNs) confirmed the previously observed mutation and identified four additional missense mutations. We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy. Four mutations are located in the Hsp20-alpha-crystallin domain, and one mutation is in the C-terminal part of the HSP27 protein. Neuronal cells transfected with mutated HSPB1 were less viable than cells expressing the wild-type protein. Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments. 相似文献
62.
Dodé C Levilliers J Dupont JM De Paepe A Le Dû N Soussi-Yanicostas N Coimbra RS Delmaghani S Compain-Nouaille S Baverel F Pêcheux C Le Tessier D Cruaud C Delpech M Speleman F Vermeulen S Amalfitano A Bachelot Y Bouchard P Cabrol S Carel JC Delemarre-van de Waal H Goulet-Salmon B Kottler ML Richard O Sanchez-Franco F Saura R Young J Petit C Hardelin JP 《Nature genetics》2003,33(4):463-465
We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis. Moreover, we suggest that the KAL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling and propose that the gender difference in anosmin-1 dosage (because KAL1 partially escapes X inactivation) explains the higher prevalence of the disease in males. 相似文献
63.
Young ND Debellé F Oldroyd GE Geurts R Cannon SB Udvardi MK Benedito VA Mayer KF Gouzy J Schoof H Van de Peer Y Proost S Cook DR Meyers BC Spannagl M Cheung F De Mita S Krishnakumar V Gundlach H Zhou S Mudge J Bharti AK Murray JD Naoumkina MA Rosen B Silverstein KA Tang H Rombauts S Zhao PX Zhou P Barbe V Bardou P Bechner M Bellec A Berger A Bergès H Bidwell S Bisseling T Choisne N Couloux A Denny R Deshpande S Dai X Doyle JJ Dudez AM Farmer AD Fouteau S Franken C Gibelin C Gish J Goldstein S 《Nature》2011,480(7378):520-524
Legumes (Fabaceae or Leguminosae) are unique among cultivated plants for their ability to carry out endosymbiotic nitrogen fixation with rhizobial bacteria, a process that takes place in a specialized structure known as the nodule. Legumes belong to one of the two main groups of eurosids, the Fabidae, which includes most species capable of endosymbiotic nitrogen fixation. Legumes comprise several evolutionary lineages derived from a common ancestor 60 million years ago (Myr ago). Papilionoids are the largest clade, dating nearly to the origin of legumes and containing most cultivated species. Medicago truncatula is a long-established model for the study of legume biology. Here we describe the draft sequence of the M. truncatula euchromatin based on a recently completed BAC assembly supplemented with Illumina shotgun sequence, together capturing ~94% of all M. truncatula genes. A whole-genome duplication (WGD) approximately 58 Myr ago had a major role in shaping the M. truncatula genome and thereby contributed to the evolution of endosymbiotic nitrogen fixation. Subsequent to the WGD, the M. truncatula genome experienced higher levels of rearrangement than two other sequenced legumes, Glycine max and Lotus japonicus. M. truncatula is a close relative of alfalfa (Medicago sativa), a widely cultivated crop with limited genomics tools and complex autotetraploid genetics. As such, the M. truncatula genome sequence provides significant opportunities to expand alfalfa's genomic toolbox. 相似文献
64.
Signal-dependent regulation of splicing via phosphorylation of Sam68 总被引:28,自引:0,他引:28
65.
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy 总被引:24,自引:0,他引:24
Rovelet-Lecrux A Hannequin D Raux G Le Meur N Laquerrière A Vital A Dumanchin C Feuillette S Brice A Vercelletto M Dubas F Frebourg T Campion D 《Nature genetics》2006,38(1):24-26
We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides. Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA. 相似文献