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SlC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

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World Journal of Otorhinolaryngology 2013年第2期3卷 26-34页

作者： Taku Ito Julie Muskett Parna Chattaraj Byung Yoon Choi Kyu Yup lee Christopher K Zalewski Kelly A King Xiangming li Philine Wangemann Thomas Shawker Carmen C Brewer seth l alper Andrew J Griffith Otolaryngology Branch National Institute on Deafness and Other Communication Disorders National Institutes of Health Rockville MD 20850 United States laboratory of Molecular Genetics National Institute on Deafness and Other Communication Disorders National Institutes of Health Rockville MD 20850 United States Anatomy and Physiology Department Kansas State University Manhattan KS 66506 United States Diagnostic Radiology Department Warren G. Magnuson Clinical Center National Institutes of Health Bethesda MD 20892 United States Renal Division Beth Israel Deaconess Medical Center Harvard Medical School Boston MA 02215 United States

Pendred syndrome(PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct(EVA), and mutations of the SlC26A4 gene. However, not all EVA patients have PSor SlC26A4 mutations. Two mutant alleles of SlC26A4 are detected in 1/4 of North American or European EVA populations, one mutant allele is detected in another 1/4 of patient populations, and no mutations are detected in the other 1/2. The presence of two mutant alleles of SlC26A4 is associated with abnormal iodide organification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The presence of a single mutant allele of SlC26A4 is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an Slc26a4 mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or inner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of SlC26A4 have a second, undetected mutant allele of SlC26A4, and the probability of a sibling having EVA is consistent with its segregation as an autosomal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. SlC26A4 mutation testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling.

关键词： SlC26A4 Pendred syndrome Genetic test-ing Goiter Hearing loss Vestibular aqueduct Genotype-phenotype correlation

两种富含甘氨酸的RNA结合蛋白参与选择性剪接实现对水稻耐热性的昼夜节律调控（英文）

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Science Bulletin 2024年第1期 59-71页

作者：杨闯罗安妮芦海平 seth Jon Davis 刘建祥 State Key laboratory of Plant Environmental Resilience College of Life Sciences Zhejiang University Department of Biology University of York

Rice(Oryza sativa l.) production is threatened by global warming associated with extreme high temperatures, and rice heat sensitivity is differed when stress occurs between daytime and nighttime. However,the underlying molecular mechanism are largely unknown. We show here that two glycine-rich RNA binding proteins, Os GRP3 and Os GRP162, are required for thermotolerance in rice, especially at nighttime. The rhythmic expression of Os GRP3/Os GRP162 peaks at midnight, and at these coincident times,is increased by heat stress. This is largely dependent on the evening complex component Os *** next found that the double mutant of Os GRP3/Os GRP162 is strikingly more sensitive to heat stress in terms of survival rate and seed setting rate when comparing to the wild-type plants. Interestingly,the defect in thermotolerance is more evident when heat stress occurred in nighttime than that in daytime. Upon heat stress, the double mutant of Os GRP3/Os GRP162 displays globally reduced expression of heat-stress responsive genes, and increases of m RNA alternative splicing dominated by *** study thus reveals the important role of Os GRP3/Os GRP162 in thermotolerance in rice, and unravels the mechanism on how Os GRP3/Os GRP162 regulate thermotolerance in a diurnal manner.

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Integrative genomic and transcriptomic profiling of pulmonary sarcomatoid carcinoma identifies molecular subtypes associated with distinct immune features and clinical outcomes

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Cancer Innovation 2024年第3期3卷 81-94页

作者： Sahil seth Runzhe Chen Yang liu Junya Fujimoto lingzhi Hong Alexandre Reuben Susan Varghese Carmen Behrens Tina McDowell luisa Solis Soto Cara Haymaker Annikka Weissferdt Neda Kalhor Jia Wu Xiuning le Natalie I Vokes Chao Cheng John V.Heymach Don l.Gibbons P.Andrew Futreal Ignacio IWistuba Humam Kadara Jianhua Zhang Cesar Moran Jianjun Zhang Department of Genomic Medicine The University of Texas MD Anderson Cancer CenterHoustonTexasUSA TRACTION The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Graduate School of Biomedical Sciences The University of Texas MD Anderson and the University of Texas Health Science CenterHoustonTexasUSA Department of Thoracic/Head and Neck Medical Oncology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Translational Molecular Pathology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Epidemiology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Pathology The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Imaging Physics The University of Texas MD Anderson Cancer CenterHoustonTexasUSA Department of Medicine Baylor College of MedicineHoustonTexasUSA

Background:Pulmonary sarcomatoid carcinoma(PSC)is a rare and aggressive subtype of non-small cell lung cancer(NSClC),characterized by the presence of epithelial and sarcoma-like *** molecular and immune landscape of PSC has not been well ***:Multiomics profiling of 21 pairs of PSCs with matched normal lung tissues was performed through targeted high-depth DNA panel,whole-exome,and RNA *** describe molecular and immune features that define subgroups of PSC with disparate genomic and immunogenic features as well as distinct clinical ***:In total,27 canonical cancer gene mutations were identified,with TP53 the most frequently mutated gene,followed by ***,most TP53 and KRAS mutations were earlier genomic events mapped to the trunks of the tumors,suggesting branching evolution in most PSC *** identified two distinct molecular subtypes of PSC,driven primarily by immune infiltration and *** Immune High(IM-H)subtype was associated with superior survival,highlighting the impact of immune infiltration on the biological and clinical features of localized ***:We provided detailed insight into the mutational landscape of PSC and identified two molecular subtypes associated with ***-H tumors were associated with favorable recurrence-free survival and overall survival,highlighting the importance of tumor immune infiltration in the biological and clinical features of PSCs.

关键词： genomic immune pulmonary sarcomatoid carcinoma survival

Bromide ion mediated modification to digestive ripening process： Preparation of ultra-small Pd, Pt, Rh and Ru nanoparticles

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Nano Research 2016年第7期9卷 2007-2017页

作者： Jhumur seth Bhagavatula l. V. Prasad Physical and Material Chemis try Division National Chemical Laboratory (CSIR-NCL) Dr. Homi Bhabha Road Pune 411008 India

Nanoparticles of catalytically important transition metals, such as Pd, Pt, Rh, and Ru have been prepared by the well-known ＂digestive ripening＂（DR） and ＂modified digestive ripening＂（mDR） methods. In the traditional DR process, a polydisperse colloidal dispersion is refluxed in the presence of a surface-active molecule, such as alkanethiol. The mDR method involved a small modification in the procedure, wherein refluxing was performed with an alkanethiol and a tetra-alkylammonium bromide surfactant. This minor modification led to a dramatic change in the final particle size distributions, giving access to nano- particles in the 〈3 nm size regime; this was not possible with the traditional DR process. Bromide ions, which are present during refluxing, proved to be an important ingredient in the modification process. These bromide ions are revealed to act as etchants, resulting in ultra-small nanoparticles. All transition metal nanoparticles investigated displayed catalytic activity in the reduction reaction of p-nitro phenol. Pd nanoparticles, synthesized by a modified digestive ripening method, exhibited the best catalytic activity among the systems investigated.

关键词： digestive ripening ultra-small nanoparticles halide ions catalysis

Physical,Anatomical,and Photochemical Analyses of Some ExoticWood Species Submitted to Heat Treatment

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Journal of Renewable Materials 2021年第8期9卷 1485-1501页

作者： alper Aytekin Hikmet Yazıcı Bartın University Department of Management Information SystemsBartın74100Turkey Zonguldak Bulent Ecevit University Çaycuma Vocational SchoolZonguldak67100Turkey

The objective of this study was to evaluate the effect of heat treatment on decorative properties including glossiness,color coordinates including lightness(l),blue-yellow(b^(*))and red-green(a^(*)),hardness(shore-D)morphological characterization and thermal properties of some exotic wood *** treatment of anigre(Aningeria altissima),cedrorana(Cedrelinga catenaeformis),cemara(Casuarina sumatrana)and coronilla(Scutia buxifolia)wood materials were performed in an oven with a programmable controller at 210°C for 3 *** obtained samples were conditioned in a climate cabin and the decorative properties,morphological characterization with scanning electron microscopy(SEM)and thermal properties with thermogravimetric analyzer(TGA)of the obtained samples were *** test results showed that color got darker with heat treatment,specifically l and b^(*)decreased,and a^(*)increased for anigre and cedrorana but a^(*)decreased for cemara and *** glossiness for all samples generally increased from 20°to 85°but heat treatment decreased the *** density generally decreased with heat treatment and decrease ratio in the density was found to be in range from 5.6%to 10.6%.According to the SEM analysis,some cracks,pit aspiration and layer decomposition in the micro level of the wood structure were *** showed that heat treatment makes thermally more stable *** a result,it can be said that heat treatment improved the decorative properties of the exotic wood.

关键词： Heat treatment color gloss hardness anigre wood cedrorana wood cemara wood coronilla wood

Metabolic pathway engineering

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Synthetic and Systems Biotechnology 2018年第1期3卷 1-2页

作者： Hal S.alper Josél.Avalos McKetta Department of Chemical Engineering The University of Texas at AustinUSA Department of Chemical and Biological Engineering Andlinger Center for Energy and the EnvironmentPrinceton UniversityUSA

Organisms can be engineered to produce a wide variety of compounds by either enhancing endogenous metabolic pathways,or by introducing exogenous pathways that are either borrowed from other organism,or de novo-designed pathways unknown to *** overexpression of bottleneck enzymes and deletion of competing pathways remain at the core of metabolic pathway engineering,there are many other key elements that need to be considered to successfully develop strains for the production of valuable products.

关键词： products. introducing valuable

Incorporating within- and between-patch resource selection in identification of critical habitat for brood-rearing greater sage-grouse

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Ecological Processes 2015年第1期4卷 57-71页

作者： Matthew R Dzialak Chad V Olson Stephen l Webb seth M Harju Jeffrey B Winstead Hayden-Wing Associates LLCNatural Resource ConsultantsLaramieWY 2308 South 8th StreetUSA The Samuel Roberts Noble Foundation 2510 Sam Noble ParkwayArdmoreOK 73401USA

Introduction:Incorporating information on animal behavior in resource-based predictive modeling(e.g.,occurrence mapping)can elucidate the relationship between process and spatial pattern and depict habitat in terms of its structure as well as its *** this paper,we assigned location data on brood-rearing greater sage-grouse(Centrocercus urophasianus)to either within-patch(encamped)or between-patch(traveling)behavioral modes by estimating a movement-based relative displacement *** were to estimate and validate spatially explicit models of within-versus between-patch resource selection for application in habitat management and compare these models to a non-behaviorally adjusted ***:A single model,the vegetation and water resources model,was most plausible for both the encamped and traveling modes,including the non-behaviorally adjusted *** encamped,sage-grouse selected for taller shrubs,avoided bare ground,and were closer to mesic *** sage-grouse selected for greater litter cover and herbaceous *** for proximity to mesic areas was common to both encamped and traveling modes and to the non-behaviorally adjusted *** non-behaviorally adjusted map was similar to the encamped model and validated ***,we observed different selection patterns during traveling that could have been masked had behavioral state not been accounted ***:Characterizing habitat that structured between-patch movement broadens our understanding of the habitat needs of brood-rearing sage-grouse,and the combined raster surface offers a reliable habitat management tool that is readily amenable to application by GIS users in efforts to focus sustainable landscape management.

关键词： Behavioral mode Brood-rearing Centrocercus urophasianus Conditional logistic regression Conservation planning Information-theoretic approach Relative displacement index Species occurrence model

landscape features and weather influence nest survival of a ground-nesting bird of conservation concern,the greater sage-grouse,in humanaltered environments

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Ecological Processes 2012年第1期1卷 83-97页

作者： Stephen l Webb Chad V Olson Matthew R Dzialak seth M Harju Jeffrey B Winstead Dusty lockman Hayden-Wing Associates LLC2308 South 8th StreetLaramieWY82070USA KC Harvey Environmental LLC376 Gallatin Park DriveBozemanMT59715USA

Introduction:Ground-nesting birds experience high levels of nest ***,birds can make selection decisions related to nest site location and characteristics that may result in physical,visual,and olfactory impediments to ***:We studied daily survival rate[DSR]of greater sage-grouse(Centrocercus urophasianus)from 2008 to 2010 in an area in Wyoming experiencing large-scale alterations to the *** used generalized linear mixed models to model fixed and random effects,and a correlation within nesting attempts,individual birds,and ***:Predation of the nest was the most common source of nest failure(84.7%)followed by direct predation of the female(13.6%).Generally,landscape variables at the nest site(≤30 m)were more influential on DSR of nests than features at larger spatial *** of shrub canopy cover at the nest site(15-m scale)and distances to natural gas wells and mesic areas had a positive relationship with DSR of nests,whereas distance to roads had a negative relationship with DSR of *** added to the vegetation model,maximum wind speed on the day of nest failure and a 1-day lag in precipitation(i.e.,precipitation the day before failure)improved model fit whereby both variables negatively influenced DSR of ***:Nest site characteristics that reduce visibility(i.e.,shrub canopy cover)have the potential to reduce depredation,whereas anthropogenic(i.e.,distance to wells)and mesic landscape features appear to facilitate ***,predators may be more efficient at locating nests under certain weather conditions(i.e.,high winds and moisture).

关键词： behavior Centrocercus urophasianus conservation depredation generalized linear mixed models greater sage-grouse human development management nest survival weather

Reaching proficiency in laparoscopic splenectomy

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World Journal of Gastroenterology 2009年第32期15卷 4005-4008页

作者： Tarik Zafer Nursal Ali Ezer Sedat Belli alper Parlakgumus Kenan Caliskan Turgut Noyan Department of General Surgery University of BaskentDadaloglu Mah.01200Serin Evler 39.Sk.No.6 Yüregir/AdanaTurkey

AIM:To investigate the proficiency level reached in laparoscopic splenectomy using the learning curve ***:All patients in need of splenectomy for benign causes in whom laparoscopic splenectomy was attempted by a single surgeon during a time period of 6 years were included in the study (n=33). Besides demographics, operation-related variables and the response to surgery were recorded. The patients were allocated to groups of five, ranked according to the date of the operation. Operation duration, complications, postoperative length of stay, conversion to laparotomy and splenic weight were then compared between these ***: There was a significant difference regarding operation times between the groups (P = 0.001). An improvement was observed after the first 5 cases. The learning curve was flat up to the 25th case. Following the 25th case the operation times decreased still further. There was no difference between the groups regarding the other ***: Unlike the widely accepted "l" shape, the learning curve for laparoscopic splenectomy is a horizontal lazy "S" with two distinct slopes. Privileges may be granted after the first 5 cases. However proficiency seems to require 25 cases.

关键词：切除术腹腔镜脾操作时间学习曲线人口统计手术并发症