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排序方式: 共有102条查询结果,搜索用时 15 毫秒
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Wright FA Strug LJ Doshi VK Commander CW Blackman SM Sun L Berthiaume Y Cutler D Cojocaru A Collaco JM Corey M Dorfman R Goddard K Green D Kent JW Lange EM Lee S Li W Luo J Mayhew GM Naughton KM Pace RG Paré P Rommens JM Sandford A Stonebraker JR Sun W Taylor C Vanscoy LL Zou F Blangero J Zielenski J O'Neal WK Drumm ML Durie PR Knowles MR Cutting GR 《Nature genetics》2011,43(6):539-546
A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10(-8)) near EHF and APIP (chr11p13) in p.Phe508del homozygotes (n = 1,978). The association replicated in p.Phe508del homozygotes (P = 0.006) from a separate family based study (n = 557), with P = 1.49 × 10(-9) for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family based study identified a significant quantitative trait locus on chromosome 20q13.2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder. 相似文献
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Transthyretin (formerly called prealbumin) plays important physiological roles as a transporter of thyroxine and retinol-binding
protein. X-ray structural studies have provided information on the active conformation of the protein and the site of binding
of both ligands. Transthyretin is also one of the precursor proteins commonly found in amyloid deposits. Both wild-type and
single-amino-acid-substituted variants have been identified in amyloid deposits, the variants being more amyloidogenic. Sequencing
of the gene and the resulting production of a transgenic mouse model have resulted in progress toward solving the mechanism
of amyloid formation and detecting the variant gene in individuals at risk.
Received 23 January 2001; received after revision 4 April 2001; accepted 30 April 2001 相似文献
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Gardner MJ Shallom SJ Carlton JM Salzberg SL Nene V Shoaibi A Ciecko A Lynn J Rizzo M Weaver B Jarrahi B Brenner M Parvizi B Tallon L Moazzez A Granger D Fujii C Hansen C Pederson J Feldblyum T Peterson J Suh B Angiuoli S Pertea M Allen J Selengut J White O Cummings LM Smith HO Adams MD Venter JC Carucci DJ Hoffman SL Fraser CM 《Nature》2002,419(6906):531-534
The mosquito-borne malaria parasite Plasmodium falciparum kills an estimated 0.7-2.7 million people every year, primarily children in sub-Saharan Africa. Without effective interventions, a variety of factors-including the spread of parasites resistant to antimalarial drugs and the increasing insecticide resistance of mosquitoes-may cause the number of malaria cases to double over the next two decades. To stimulate basic research and facilitate the development of new drugs and vaccines, the genome of Plasmodium falciparum clone 3D7 has been sequenced using a chromosome-by-chromosome shotgun strategy. We report here the nucleotide sequences of chromosomes 10, 11 and 14, and a re-analysis of the chromosome 2 sequence. These chromosomes represent about 35% of the 23-megabase P. falciparum genome. 相似文献
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Floyd JA Gold DA Concepcion D Poon TH Wang X Keithley E Chen D Ward EJ Chinn SB Friedman RA Yu HT Moriwaki K Shiroishi T Hamilton BA 《Nature genetics》2003,35(3):221-228
Endogenous retroviruses have shaped the evolution of mammalian genomes. Host genes that control the effects of retrovirus insertions are therefore of great interest. The modifier-of-vibrator-1 locus (Mvb1) controls levels of correctly processed mRNA from genes mutated by endogenous retrovirus insertions into introns, including the Pitpn(vb) tremor mutation and the Eya1(BOR) model of human branchiootorenal syndrome. Positional complementation cloning identifies Mvb1 as the nuclear export factor Nxf1, providing an unexpected link between the mRNA export receptor and pre-mRNA processing. Population structure of the suppressive allele in wild Mus musculus castaneus suggests selective advantage. A congenic Mvb1(CAST) allele is a useful tool for modifying gene expression from existing mutations and could be used to manipulate engineered mutations containing retroviral elements. 相似文献
8.
The phytochromes are a family of plant photoreceptor proteins that control several adaptive developmental strategies. For example, the phytochromes perceive far-red light (wavelengths between 700 and 800 nm) reflected or scattered from the leaves of nearby vegetation. This provides an early warning of potential shading, and triggers a series of 'shade-avoidance' responses, such as a rapid increase in elongation, by which the plant attempts to overgrow its neighbours. Other, less immediate, responses include accelerated flowering and early production of seeds. However, little is known about the molecular events that connect light perception with increased growth in shade avoidance. Here we show that the circadian clock gates this rapid shade-avoidance response. It is most apparent around dusk and is accompanied by altered expression of several genes. One of these rapidly responsive genes encodes a basic helix-loop-helix protein, PIL1, previously shown to interact with the clock protein TOC1 (ref. 4). Furthermore PIL1 and TOC1 are both required for the accelerated growth associated with the shade-avoidance response. 相似文献
9.
Urinary bladder hyporeflexia and reduced pain-related behaviour in P2X3-deficient mice 总被引:48,自引:0,他引:48
Cockayne DA Hamilton SG Zhu QM Dunn PM Zhong Y Novakovic S Malmberg AB Cain G Berson A Kassotakis L Hedley L Lachnit WG Burnstock G McMahon SB Ford AP 《Nature》2000,407(6807):1011-1015
Extracellular ATP is implicated in numerous sensory processes ranging from the response to pain to the regulation of motility in visceral organs. The ATP receptor P2X3 is selectively expressed on small diameter sensory neurons, supporting this hypothesis. Here we show that mice deficient in P2X3 lose the rapidly desensitizing ATP-induced currents in dorsal root ganglion neurons. P2X3 deficiency also causes a reduction in the sustained ATP-induced currents in nodose ganglion neurons. P2X3-null mice have reduced pain-related behaviour in response to injection of ATP and formalin. Significantly, P2X3-null mice exhibit a marked urinary bladder hyporeflexia, characterized by decreased voiding frequency and increased bladder capacity, but normal bladder pressures. Immunohistochemical studies localize P2X3 to nerve fibres innervating the urinary bladder of wild-type mice, and show that loss of P2X3 does not alter sensory neuron innervation density. Thus, P2X3 is critical for peripheral pain responses and afferent pathways controlling urinary bladder volume reflexes. Antagonists to P2X3 may therefore have therapeutic potential in the treatment of disorders of urine storage and voiding such as overactive bladder. 相似文献
10.
自从产业革命以来,城市便是西方文化中一个奇特的关联到爱与恨的主题。一方面,我们对城市在文明兴起中的重要作用表示敬意;另一方面,我们为城市中连绵的大烟囱、堆积如山的垃圾和漫溢的阴沟而掩住鼻孔,责难它们恰恰是旷野的对立面。美国的哲学家、博物学家亨利·大维·梭罗写道,大自然“孤独地挥舞着,远离人类居住的城镇。”但是如果一位外星人来访,它会不会表示异议?它会不会像观察雨林和珊瑚礁一样,把城市看作是地球上另一个生态系统?它会不会注意到城市里的所有事物最终受制于同样的生物和物理进程,正是这一进程形成了每一处… 相似文献