排序方式: 共有29条查询结果,搜索用时 125 毫秒
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Panizzi JR Becker-Heck A Castleman VH Al-Mutairi DA Liu Y Loges NT Pathak N Austin-Tse C Sheridan E Schmidts M Olbrich H Werner C Häffner K Hellman N Chodhari R Gupta A Kramer-Zucker A Olale F Burdine RD Schier AF O'Callaghan C Chung EM Reinhardt R Mitchison HM King SM Omran H Drummond IA 《Nature genetics》2012,44(6):714-719
Cilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and establishing laterality. Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affecting 1:15,000-30,000 births. Cilia motility requires the assembly of multisubunit dynein arms that drive ciliary bending. Despite progress in understanding the genetic basis of PCD, mutations remain to be identified for several PCD-linked loci. Here we show that the zebrafish cilia paralysis mutant schmalhans (smh(tn222)) encodes the coiled-coil domain containing 103 protein (Ccdc103), a foxj1a-regulated gene product. Screening 146 unrelated PCD families identified individuals in six families with reduced outer dynein arms who carried mutations in CCDC103. Dynein arm assembly in smh mutant zebrafish was rescued by wild-type but not mutant human CCDC103. Chlamydomonas Ccdc103/Pr46b functions as a tightly bound, axoneme-associated protein. These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 相似文献
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S. Pathak 《Cellular and molecular life sciences : CMLS》1972,28(2):221-223
Résumé Des préparations de moëlle osseuse ont permis d'établir le mombre diploïde (2N=42) et le nombre fondamental (NF=52) deBandicota b. bengalensis (Gray), les spécimens étudiés appartement à trois populations distinctes (Rohru, Varanasi, Belonia, Indes). Le nombre et la forme des autosomes sont les mêmes dans les trois échantillons alors que l'X peut être acrocentrique ou submétacentrique; L'Y est petit et submétacentrique. 相似文献
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Stretch sensitive intrinsic autoregulatory mechanisms for rhythmicity and contractility of the heart
C. L. Pathak 《Cellular and molecular life sciences : CMLS》1972,28(6):650-651
Résumé L'étirement mécanique est une force motrice fondamentale pour l'autorégulation intrinsèque du rhythme du cur en modifiant l'activité du «pacemaker» de la même manière que la distension du myocarde influe sur le réponse inotropique. L'étirement est un mécanisme biologique de base pour la rythmicité cardiaque et la contractilité et il met en interdépendance positive le retour veineux et le débit sanguin. La sensibilité à l'étirement est une propriété des réponses chronotropiques. Elle fait du cur une pompe autorégulatrice unique en son genre. 相似文献
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Racial differences in the fate of melanosomes in human epidermis 总被引:4,自引:0,他引:4
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Abhishek Pathak Biswajyoti Mukherjee Krishna Kant Pandey Aminul Islam Pavan Bijalwan Monojit Dutta Atanu Banerjee Anup Kumar Keshri 《矿物冶金与材料学报》2022,1(1):144-152
本研究试图通过优化等离子喷涂参数来开发一种Fe基非晶/晶体涂层,该涂层主要成分来自一种贫乏的铁基合金(Fe92.6C3.5P1.4Si2Mn0.5)。这种合金是钢铁厂高炉产出的生铁剩余废料。为了经济有效地重新利用这种残留物,这种合金在合成时对成分进行了最少的修改。同时,本研究还探讨了涂层的结构、机械、腐蚀和磨损性能对喷涂参数(等离子功率、主气体流速、送粉速度和间隔距离)的依赖性。X射线衍射表明,在最优的喷涂参数下沉积的涂层存在无定形/晶体相。在较低等离子功率和最高气体流速下沉积的涂层表现出更好的密度、硬度和耐磨性。所有涂层都表现出良好的耐腐蚀性(腐蚀环境:3.5wt% NaCl 溶液)。机械、磨损和摩擦学研究表明,单一的工艺参数优化无法提供良好的涂层性能;相反,所有工艺参数在优化涂层性能都具有独一无二的作用,它们主要通过控制飞行中的颗粒温度和速度分布,以及熔滴撞击基材之前的冷却模式来控制涂层性能。 相似文献
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Chang S Multani AS Cabrera NG Naylor ML Laud P Lombard D Pathak S Guarente L DePinho RA 《Nature genetics》2004,36(8):877-882
Mutational inactivation of the gene WRN causes Werner syndrome, an autosomal recessive disease characterized by premature aging, elevated genomic instability and increased cancer incidence. The capacity of enforced telomerase expression to rescue premature senescence of cultured cells from individuals with Werner syndrome and the lack of a disease phenotype in Wrn-deficient mice with long telomeres implicate telomere attrition in the pathogenesis of Werner syndrome. Here, we show that the varied and complex cellular phenotypes of Werner syndrome are precipitated by exhaustion of telomere reserves in mice. In late-generation mice null with respect to both Wrn and Terc (encoding the telomerase RNA component), telomere dysfunction elicits a classical Werner-like premature aging syndrome typified by premature death, hair graying, alopecia, osteoporosis, type II diabetes and cataracts. This mouse model also showed accelerated replicative senescence and accumulation of DNA-damage foci in cultured cells, as well as increased chromosomal instability and cancer, particularly nonepithelial malignancies typical of Werner syndrome. These genetic data indicate that the delayed manifestation of the complex pleiotropic of Wrn deficiency relates to telomere shortening. 相似文献
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C. L. Pathak 《Cellular and molecular life sciences : CMLS》1976,32(10):1295-1297
Summary It was observed the heart rate was minimum at zero transmural pressure. The mean heart rate at zero transmural pressure was 23±5/min. This mean heart rate increased from 23±5/min to a peak value of 40±6/min (74% acceleratin) when the transmural pressure was raised from 0 to +4 mm Hg and to a similar peak value of 36±8/min (56% acceleration) when the transmural pressure was lowered from 0 to –4 mm Hg. The peak values attained at ±4 mm Hg were higly significant (p<0.001). It is concluded that the heart rate at zero transmural pressure represents the basic intrinsic pacemaker frequency independent of neural, humoral, thermal and haemodynamically induced mechanical influences. 相似文献
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The conversion of a normal cell to a cancer cell occurs in several steps and typically involves the activation of oncogenes and the inactivation of tumour suppressor and pro-apoptotic genes. In many instances, inactivation of genes critical for cancer development occurs by epigenetic silencing, often involving hypermethylation of CpG-rich promoter regions. It remains to be determined whether silencing occurs by random acquisition of epigenetic marks that confer a selective growth advantage or through a specific pathway initiated by an oncogene. Here we perform a genome-wide RNA interference (RNAi) screen in K-ras-transformed NIH 3T3 cells and identify 28 genes required for Ras-mediated epigenetic silencing of the pro-apoptotic Fas gene. At least nine of these RESEs (Ras epigenetic silencing effectors), including the DNA methyltransferase DNMT1, are directly associated with specific regions of the Fas promoter in K-ras-transformed NIH 3T3 cells but not in untransformed NIH 3T3 cells. RNAi-mediated knockdown of any of the 28 RESEs results in failure to recruit DNMT1 to the Fas promoter, loss of Fas promoter hypermethylation, and derepression of Fas expression. Analysis of five other epigenetically repressed genes indicates that Ras directs the silencing of multiple unrelated genes through a largely common pathway. Last, we show that nine RESEs are required for anchorage-independent growth and tumorigenicity of K-ras-transformed NIH 3T3 cells; these nine genes have not previously been implicated in transformation by Ras. Our results show that Ras-mediated epigenetic silencing occurs through a specific, complex, pathway involving components that are required for maintenance of a fully transformed phenotype. 相似文献