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Awad MM Dalal D Cho E Amat-Alarcon N James C Tichnell C Tucker A Russell SD Bluemke DA Dietz HC Calkins H Judge DP 《American journal of human genetics》2006,79(1):136-142
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fibrofatty replacement of cardiac myocytes that typically manifests in the right ventricle. It is inherited as an autosomal dominant disease with reduced penetrance, although autosomal recessive forms of the disease also occur. We identified four probands with ARVD/C caused by mutations in DSG2, which encodes desmoglein-2, a component of the cardiac desmosome. No association between mutations in this gene and human disease has been reported elsewhere. One of these probands has compound-heterozygous mutations in DSG2, and the remaining three have isolated heterozygous missense mutations, each disrupting known functional components of desmoglein-2. We report that mutations in DSG2 contribute to the development of ARVD/C. 相似文献
105.
Bruncko M Tahir SK Song X Chen J Ding H Huth JR Jin S Judge RA Madar DJ Park CH Park CM Petros AM Tse C Rosenberg SH Elmore SW 《Bioorganic & medicinal chemistry letters》2010,20(24):7503-7506
We describe the development of a novel series of N-aryl-benzimidazolone HSP90 inhibitors (9) targeting the N-terminal ATP-ase site. SAR development was influenced by structure-based design based around X-ray structures of ligand bound HSP90 complexes. Lead compounds exhibited high binding affinities, ATP-ase inhibition and cellular client protein degradation. 相似文献
106.
Deepika Sharma Pradeep Kumar Vikramjeet Judge Rakesh Narang Erik De Clercq 《Journal of enzyme inhibition and medicinal chemistry》2013,28(5):1161-1168
In the present study we have synthesized (4-nitrophenyl)-[2-(substituted phenyl)-benzoimidazol-1-yl]-methanones, (2-bromophenyl)-[2-(substituted phenyl)-benzoimidazol-1-yl]-methanone analogues (1–14) and evaluated them for their antimicrobial and antiviral potential. The results of antimicrobial screening indicated that none of the synthesized compounds were effective against the tested bacterial strains. Compounds 3, 11, 13 and compounds 5, 11, 12 were found to be active against Aspergillus niger and Candida albicans respectively, and may be further developed as antifungal agents. Furthermore, evaluation against a panel of different viruses pointed out the selective activity of compounds 5 and 6 against vaccinia virus and Coxsackie virus B4. 相似文献
107.
Helen M. Dooley Debra S. Judge Lincoln H. Schmitt 《Primates; journal of primatology》2013,54(1):39-48
Kloss gibbons (Hylobates klossii) are endemic to the Mentawai Islands in Indonesia and are one of only two gibbon species in which mated pairs do not sing duets. This is the first long-term study of the factors influencing the singing activity of Kloss gibbons within a northern Siberut Island population and follows two previous studies in central Siberut nearly 30 years ago. We collected data on the presence/absence of male and female singing within the study area on 198 days and within a focal group on 47 days. Rainfall during the time period in which they normally sing inhibits singing in both males and females. Our study supports the hypothesis that male and female songs function in intrasexual resource defence, as singing is associated with singing by same-sex neighbours, and same-sex choruses are more likely to occur after one or more days of silence (from that sex), suggesting there is pressure for individuals to communicate with same-sex neighbours regularly. Singing was not coordinated within a mated pair, suggesting that vocal coordination of the pair has been lost with the loss of the duet and that Kloss gibbon songs do not convey information to neighbours about the strength of the pair bond. On days when males sang predawn, females were more likely to sing after dawn and earlier in the morning. Additionally, the number of groups singing in female choruses was positively associated with the number of males that had sung in the predawn male chorus. We suggest that female songs have an intersexual territory defence as well as an intrasexual function. 相似文献
108.
Surveys were distributed to New Zealand land users in 1998 and 2008 to acquire information about New Zealand frogs with the aim of compiling and mapping their distribution and inferred population trends without costly and time-consuming field surveys. The overall frog population trend was reported as declining, with possible causes reported as an increase in agriculture, an increase in the distribution of predatory fish and disease. The resultant maps could be used for four main purposes: 1) to identify regions where Litoria populations are known to occur, which can be eliminated when considering suitable regions for translocation of Leiopelma; 2) to identify growing or stable populations of Litoria species, which may assist future disease surveys, population monitoring and to identify sources of genetic material that may serve as an Ark for declining Australian populations; 3) to highlight populations that are in decline to enable effective targeting of detailed disease studies; and 4) to approximate the stability of amphibian populations in the absence of more accurate, but costly, scientific monitoring. 相似文献
109.
Habitat selection by marine snails is profoundly affected by variations in biotic and abiotic factors. In the supralittoral
fringe of Caribbean rocky shores, the littorinid Cenchritis muricatus endures a near-terrestrial existence through a combination of active microhabitat choice and, during dry periods, repose.
In this study, we sought to compare knobby periwinkle body size, thermal load, water loss, and stress protein expression among
common supralittoral microhabitats to determine the physiological consequences of habitat selection. In this study, we show:
(1) body temperatures in these snails exhibit daily fluctuations of more than 20°C and regularly exceed 46°C, (2) microhabitats
differ in thermal stress over small spatial scales, with snails on black rocks and within crevices experiencing more extreme
temperatures than snails on white rocks or grass, (3) water losses of 8.5% of total snail mass do not affect survival during
1 week, and (4) Hsp70, but not Hsp90, expression varies slightly among microhabitats but at a level much lower than physiologically
possible. During arousal following hydration, snails exhibited substantially higher levels of Hsp70s than snails on dry substrates
in the field. When inactive, Cenchritis appears to utilize a distinctly different physiological state consistent with aestivation metabolism and does not exhibit
significant up-regulation of inducible heat shock proteins (Hsps). In summary, studies lacking detailed thermal and hydration
history, and relying only upon Hsp levels, may misrepresent the true physiological consequences of microhabitat choice for
high-shore tropical gastropods. 相似文献
110.
Fritha H. Milne Debra S. Judge 《Proceedings. Biological sciences / The Royal Society》2011,278(1704):417-423
The higher costs of sons compared with daughters extends to a negative effect of brothers on the lifetime reproductive success of their siblings in subsistence and preindustrial societies. In societies with fewer resource constraints, one might expect that these effects would be limited or non-existent. This study investigates the costs of brothers and sisters in a contemporary western society of adult Australians. Girls with elder brothers had a delayed age at menarche. Younger brothers were associated with delayed onset of sexual activity in sisters, but not in brothers. Neither younger nor elder brothers influenced fitness parameters (number of pregnancies, number of children, age at first pregnancy or age at first birth) in siblings of either sex. This study provides evidence that brothers negatively affect their sisters'' onset of reproductive maturity and sexual activity; however, this delay is not associated with a fitness cost in contemporary Australia. We suggest this is due to the long period of independence prior to child bearing. 相似文献