排序方式: 共有26条查询结果,搜索用时 15 毫秒
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Krantz ID McCallum J DeScipio C Kaur M Gillis LA Yaeger D Jukofsky L Wasserman N Bottani A Morris CA Nowaczyk MJ Toriello H Bamshad MJ Carey JC Rappaport E Kawauchi S Lander AD Calof AL Li HH Devoto M Jackson LG 《Nature genetics》2004,36(6):631-635
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur. Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. We identified mutations in one gene in this region, which we named NIPBL, in four sporadic and two familial cases of CdLS. We characterized the genomic structure of NIPBL and found that it is widely expressed in fetal and adult tissues. The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster. 相似文献
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M Laird 《Experientia》1985,41(4):446-456
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Snodgrass C Tubiana C Vincent JB Sierks H Hviid S Moissl R Boehnhardt H Barbieri C Koschny D Lamy P Rickman H Rodrigo R Carry B Lowry SC Laird RJ Weissman PR Fitzsimmons A Marchi S;OSIRIS team 《Nature》2010,467(7317):814-816
The peculiar object P/2010?A2 was discovered in January 2010 and given a cometary designation because of the presence of a trail of material, although there was no central condensation or coma. The appearance of this object, in an asteroidal orbit (small eccentricity and inclination) in the inner main asteroid belt attracted attention as a potential new member of the recently recognized class of main-belt comets. If confirmed, this new object would expand the range in heliocentric distance over which main-belt comets are found. Here we report observations of P/2010?A2 by the Rosetta spacecraft. We conclude that the trail arose from a single event, rather than a period of cometary activity, in agreement with independent results. The trail is made up of relatively large particles of millimetre to centimetre size that remain close to the parent asteroid. The shape of the trail can be explained by an initial impact ejecting large clumps of debris that disintegrated and dispersed almost immediately. We determine that this was an asteroid collision that occurred around 10 February 2009. 相似文献
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Chekeni FB Elliott MR Sandilos JK Walk SF Kinchen JM Lazarowski ER Armstrong AJ Penuela S Laird DW Salvesen GS Isakson BE Bayliss DA Ravichandran KS 《Nature》2010,467(7317):863-867
Apoptotic cells release 'find-me' signals at the earliest stages of death to recruit phagocytes. The nucleotides ATP and UTP represent one class of find-me signals, but their mechanism of release is not known. Here, we identify the plasma membrane channel pannexin 1 (PANX1) as a mediator of find-me signal/nucleotide release from apoptotic cells. Pharmacological inhibition and siRNA-mediated knockdown of PANX1 led to decreased nucleotide release and monocyte recruitment by apoptotic cells. Conversely, PANX1 overexpression enhanced nucleotide release from apoptotic cells and phagocyte recruitment. Patch-clamp recordings showed that PANX1 was basally inactive, and that induction of PANX1 currents occurred only during apoptosis. Mechanistically, PANX1 itself was a target of effector caspases (caspases 3 and 7), and a specific caspase-cleavage site within PANX1 was essential for PANX1 function during apoptosis. Expression of truncated PANX1 (at the putative caspase cleavage site) resulted in a constitutively open channel. PANX1 was also important for the 'selective' plasma membrane permeability of early apoptotic cells to specific dyes. Collectively, these data identify PANX1 as a plasma membrane channel mediating the regulated release of find-me signals and selective plasma membrane permeability during apoptosis, and a new mechanism of PANX1 activation by caspases. 相似文献
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A new papillomavirus associated with alimentary cancer in cattle 总被引:8,自引:0,他引:8
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Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy 总被引:14,自引:0,他引:14
Robitaille J MacDonald ML Kaykas A Sheldahl LC Zeisler J Dubé MP Zhang LH Singaraja RR Guernsey DL Zheng B Siebert LF Hoskin-Mott A Trese MT Pimstone SN Shastry BS Moon RT Hayden MR Goldberg YP Samuels ME 《Nature genetics》2002,32(2):326-330
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Loci associated with FEVR map to 11q13-q23 (EVR1; OMIM 133780, ref. 1), Xp11.4 (EVR2; OMIM 305390, ref. 2) and 11p13-12 (EVR3; OMIM 605750, ref. 3). Here we have confirmed linkage to the 11q13-23 locus for autosomal dominant FEVR in one large multigenerational family and refined the disease locus to a genomic region spanning 1.55 Mb. Mutations in FZD4, encoding the putative Wnt receptor frizzled-4, segregated completely with affected individuals in the family and were detected in affected individuals from an additional unrelated family, but not in normal controls. FZD genes encode Wnt receptors, which are implicated in development and carcinogenesis. Injection of wildtype and mutated FZD4 into Xenopus laevis embryos revealed that wildtype, but not mutant, frizzled-4 activated calcium/calmodulin-dependent protein kinase II (CAMKII) and protein kinase C (PKC), components of the Wnt/Ca(2+) signaling pathway. In one of the mutants, altered subcellular trafficking led to defective signaling. These findings support a function for frizzled-4 in retinal angiogenesis and establish the first association between a Wnt receptor and human disease. 相似文献
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Scally A Dutheil JY Hillier LW Jordan GE Goodhead I Herrero J Hobolth A Lappalainen T Mailund T Marques-Bonet T McCarthy S Montgomery SH Schwalie PC Tang YA Ward MC Xue Y Yngvadottir B Alkan C Andersen LN Ayub Q Ball EV Beal K Bradley BJ Chen Y Clee CM Fitzgerald S Graves TA Gu Y Heath P Heger A Karakoc E Kolb-Kokocinski A Laird GK Lunter G Meader S Mort M Mullikin JC Munch K O'Connor TD Phillips AD Prado-Martinez J Rogers AS Sajjadian S Schmidt D Shaw K Simpson JT Stenson PD Turner DJ 《Nature》2012,483(7388):169-175
Gorillas are humans' closest living relatives after chimpanzees, and are of comparable importance for the study of human origins and evolution. Here we present the assembly and analysis of a genome sequence for the western lowland gorilla, and compare the whole genomes of all extant great ape genera. We propose a synthesis of genetic and fossil evidence consistent with placing the human-chimpanzee and human-chimpanzee-gorilla speciation events at approximately 6 and 10 million years ago. In 30% of the genome, gorilla is closer to human or chimpanzee than the latter are to each other; this is rarer around coding genes, indicating pervasive selection throughout great ape evolution, and has functional consequences in gene expression. A comparison of protein coding genes reveals approximately 500 genes showing accelerated evolution on each of the gorilla, human and chimpanzee lineages, and evidence for parallel acceleration, particularly of genes involved in hearing. We also compare the western and eastern gorilla species, estimating an average sequence divergence time 1.75 million years ago, but with evidence for more recent genetic exchange and a population bottleneck in the eastern species. The use of the genome sequence in these and future analyses will promote a deeper understanding of great ape biology and evolution. 相似文献