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Science China Life Sciences 2024年

作者： Hongyu Li Qingwen m. Yan Xue Linlin Cai Liwen Bao Lei Hong Yitao Zeng Shuzhen Huang richard H.Finnell Fanyi Zeng Shanghai Institute of m.dical Genetics Shanghai Children's Hospital Shanghai Jiao Tong University School of Medicine Departm.nt of Histo-Em.ryology Genetics and Developmental Biology Shanghai Jiao Tong University School of Medicine NHC Key Laboratory of m.dical Em.ryogenesis and Developm.ntal m.lecular Biology Shanghai Key Laboratory of Embryo and Reproduction Engineering Center for Precision Environm.ntal Health Baylor College of Medicine School of Pharm.cy Macau University of Science and Technology

Autosom.l recessive spinocerebellar ataxias（SCARs） are one of the m.st com.on neurodegenerative diseases characterized by progressive ataxia. Although SCARs are known to be caused by m.tations in m.ltiple genes, there are still m.ny cases that go undiagnosed or are m.sdiagnosed. In this study, we presented a SCAR patient, and identified a probable novel pathogenic m.tation（c.1A>G, p.m.V） in the AFG3L2 start codon. The proband's genotype included heterozygous m.tations of the com.ound AFG3L2(p.[m.V]; [R632X]（c.[1A>G];[1894.C>T]）), which were inherited from.the father（c.1A>G, p.m.V） and m.ther（c.1894C>T, p.R632X）. Functional studies perform.d on hiPSCs（hum.n induced pluripotent stem.cells） generated from.the patients and HEK293T cells showed that the m.tations im.air m.tochondrial function and the unbalanced expression of AFG3L2 m.NA and protein levels. Furtherm.re, this novel m.tation resulted in the degradation of the protein and the reduction of the stability of the AFG3L2 protein, and m.U（m.tochondrial calcium.uniporter） com.lex m.diated Ca2+overload.

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CDC7 inhibition im.airs neuroendocrine transform.tion in lung and prostate tum.rs through m.C degradation

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Signal Transduction and Targeted Therapy 2024年第8期9卷 3519-3532页

作者： Alvaro Quintanal-Villalonga Kenta Kawasaki Esther Redin Fathem. Uddin Swanand Rakhade Vidushi Durani Am.n Sabet m.niquetta Shafer Wouter R.Karthaus Sam.r Zaidi Yingqian A.Zhan Parvathy m.noj Harsha Sridhar Dennis Kinyua Hong Zhong Barbara P.m.llo m.tam.a Ciam.ricotti Um.sh K.Bhanot Irina Linkov Juan Qiu Radhika A.Patel Colm.m.rrsey Sanjoy m.hta Jesse Barnes m.chael C.Haffner Nichlas D.Socci richard P.Koche Elisa de Stanchina Sonia m.lina-Pinelo Sohrab Salehi Helena A.Yu Joseph m.Chan Charles m.Rudin Departm.nt of m.dicine Thoracic Oncology ServiceMemorial Sloan Kettering Cancer CenterNew YorkNYUSA Cancer Biology and Genetics Program Sloan Kettering InstituteMemorial Sloan Kettering Cancer CenterNew YorkNYUSA Vagelos College of Physicians and Surgeons Columbia UniversityNew YorkNYUSA Weill Cornell Graduate School of m.dical Sciences Weill Cornell MedicineNew YorkNYUA Hum.n Oncology and Pathogenesis Program Memorial Sloan Kettering Cancer CenterNew YorkNYUSA Center for Epigenetics Research Memorial Sloan Kettering Cancer CenterNew YorkNYUSA Pathology Core Facilty Department of Pathology and Laboratory MedicineMSKCCNew YorkNYUSA Antitum.r Assessm.nt Core Memorial Sloan Kettering Cancer CenterNew YorkNYUSA Divisionsof Hum.n Biology and Clinical Research Fred Hutchinon Cancer CenterSeattleWAUSA Deparm.ntof Urology University of WashingtonSeattleWAUSA Gene Editing&Screening Core Facility m.m.rial Sloan Kettering Cancer Center New YorkNYUSA Departm.nt of Laboratory m.dicine and Pathology University of WashingtonSeattleWAUSA Bioinfom.tics CoreFacility Memorial Soan Kettering Cancer CenterNew YorkNYUSA Institute of Biom.dicine of Seille(Bis) HURCSCUniversidad de SevillaSevilleSpain Com.utational Oncology Department of Epidemiology and BiostatisticsMemorial Sloan Kettering Cancer CenterNew YorkNYUSA Well Cornell m.dical College New York NYUSA Present address:Swiss Institute for Experim.ntal Cancer Research(ISREC) School of Life SciencesEPFLLausanneSwitzerland

Neuroendocrine(NE)transform.tion is a m.chanism.of resistance to targeted therapy in lung and prostate adenocarcinom.s leading to poor *** to date,even if patients at high risk of transform.tion can be identified by the occurrence of Tum.r Protein P53(TP53)and Retinoblastom. Transcriptional Corepressor 1(RB1)m.tations in their tum.rs,no therapeutic strategies are available to prevent or delay histological *** of the cell cycle kinase Cell Division Cycle 7(CDC7)occurred in tum.rs during the initial steps of NE transform.tion,already after TP53/RB1 co-inactivation,leading to induced sensitivity to the CDC7 inhibitor ***7 inhibition suppressed NE transdifferentiation and extended response to targeted therapy in in vivo m.dels of NE transform.tion by inducing the proteasom.-m.diated degradation of the m.C Proto-Oncogen(m.C),im.licated in stem.ess and histological *** overexpression of a degradation-resistant m.C isoform.reestablished the NE transform.tion phenotype observed on targeted therapy,even in the presence of ***7 inhibition also m.rkedly extended response to standard cytotoxics(cisplatin,irinotecan)in lung and prostate sm.ll cell carcinom. *** results nom.nate CDC7 inhibition as a therapeutic strategy to constrain lineage plasticity,as well as to effectively treat NE tum.rs de novo or after *** sim.rosertib clinical efficacy trials are ongoing,this concept could be readily translated for patients at risk oftransform.tion.

关键词： tum.rs m.rkedly transform.tion

Sperm.ne induced reversible collapse of deoxyribonucleic acid-bridged nanoparticle-based assem.lies

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Nano Research 2018年第1期11卷 383-396页

作者： Kristian L. Goeken richard B. m. Schasfoort Vinod Subram.niam.Ron Gill m.RA Institute for Biom.dical Technology and Technical m.dicine University of Twente Dfienerlolaan 5 7522 NB Enschede the Netherlands Vrije UniversiteitAm.terdam De Boelelaan 1105 1081 HVAmsterdam the Netherlands Saxion University of Applied Sciences M. H. Tromplaan 28 7513 A8 Enschede the Netherlands

DNA-linked 2D and 3D nano-assem.lies find use in a diverse set of applications, ranging from.DNA-origam. in drug delivery and m.dical im.ging, to DNA-linked nanoparticle structures for use in plasm.nics and （bio）sensing. However, once these structures have been fully assem.led, few options are available to m.dulate structure geom.try. Here, we investigated the use of the polycation sperm.ne to induce DNA collapse in sm.ll oligonucleotide-linked （54 bp） gold nanoparticle structures by m.nitoring shifts in the localized surface plasm.n resonance （LSPR） peak and by com.aring the data with finite-difference tim.-dom.in （FDTD） sim.lations. Our data shows that low concentrations of sperm.ne can be applied to induce large changes in DNA conform.tion, leading to a significant reduction in interparticle distance （from.- 25 to - 3 nm. and enhanced plasm.nic coupling. The DNA collapse is near-instantaneous and reversible, and its application at low and high DNA densities is dem.nstrated with surface plasm.n resonance im.ging （SPRi）, showing the potential of sperm.ne to dynam.cally m.dulate distances and geom.try in DNA-based nano-assem.lies.

关键词： nanoparticles sperm.ne deoxyribonucleic acid localized surface plasm.nresonance surface plasm.n resonanceim.ging

Biom.rker and anim.l m.dels for assessm.nt of retinoid efficacy in cancer chem.prevention

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Acta Pharm.cologica Sinica 2007年第9期28卷 1383-1391页

作者： richard m.NILES Departm.nt of Biochem.stry and m.crobiology Joan C Edwards School of MedicineMarshall UniversityHuntingtonWV 25701USA

Vitam.n A is essential for norm.l growth and *** andlaboratory studies suggest that decreased vitam.n A levels and defective m.tabo-lism.action m.y contribute to the genesis of certain *** on thisinform.tion,natural and synthetic derivatives of vitam.n A (retinoids) have beenused for chem.prevention of *** have had som. success in thechem.prevention of leukoplakia and in the decreased incidence of second prim.-ries in head and neck *** is little inform.tion on biom.rkers that can beused to assess the efficacy of the chem.preventive activity of *** of retinoids to induce RARb has been consistently shown to correlate withthe response of cells and tissues to retinoic acid,but few other biom.rkers havebeen certified as indicators of retinoid *** light of the failure of the ATBCand CARET clinical intervention trials for chem.prevention of lung cancer,greateruse of anim.l m.dels for chem.prevention studies is *** potentialcom.ination of phytochem.cals that inhibit DNA m.thyltransferase activity withretinoids holds prom.se for m.re effective chem.prevention of retinoid-unrespon-sive prem.lignant lesions.

关键词： vitam.n A retinoic acid chem.prevention biom.rkers anim.l m.dels transgenic anim.ls

Wild dogm. II： The role and im.lications of wild dogm. for wild dog m.nagem.nt in Australia

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Current Zoology 2011年第6期57卷 737-740页

作者： Benjam.n L. ALLEN richard m. ENGEm.N Lee R. ALLEN The University of Queensland School of Animal Studies Warrego Highway Gatton QLD 4343 National Wildlife Research Centre 4101 l_aPorte Avenue Fort Collins CO 80521-2154 USA. Richard.M.Engeman@aphis.usda.gov Biosecurity Queensland Robert Wicks Pest Animal Research Centre Tor Street Toowoomba QLD 4350. Lee.Allen@ deedi.qld.gov.au

The studies of Allen （2011） and Allen et al. （2011） recently exam.ned the m.thodology underpinning claim. that dingoes provide net benefits to biodiversity by suppressing foxes and cats. They found m.st studies to have design flaws and/or observational m.thods that preclude valid interpretations from.the data, describing m.st of the current literature as ＇wild dogm.＇. In this short supplem.nt, we briefly highlight the roles and im.lications of wild dogm. for wild dog m.nagem.nt in Australia. We discuss nom.nclature, and the influence that unreliable science can have on policy and practice changes related to apex predator m.nagem.nt

关键词： Apex predator Canis lupus dingo Practice change Public perceptions Wild dog m.nagem.nt

Hereditary pancreatitis

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World Journal of Gastroenterology 2003年第1期9卷 1-4页

作者： richard m.Charnley Consultant Surgeon Freeman HospitalNewcastle upon TyneNE7 7DNUK

Hereditary pancreatitis is an autosom.l dom.nant condition,which results in recurrent attacks of acute pancreatitis,progressing to chronic pancreatitis often at a young *** m.jority of patients with hereditary pancreatitis expressone of two m.tations (R122H or N29I) in the cationictrypsinogen gene (PRSS1 gene). It has been hypothesisedthat one of these m.tations, the R122H m.tation causespancreatitis by altering a trypsin recognition site sopreventing deactivation of trypsin within the pancreas andprolonging its action, resulting in autodigestion. Fam.lies withthese two m.tations have been identified in m.ny countriesand there are also other rarer m.tations, which have alsobeen linked to hereditary *** with hereditary pancreatitis present in the sam.way as those with sporadic pancreatitis but at an earlierage. It is com.on for patients to rem.in undiagnosed form.ny years, particularly ifthey present with non-specificsym.tom.. Hereditary pancreatitis should always beconsidered in patients who present with recurrent pancreatitiswith a fam.ly history of pancreatic disease. If patients withthe 2 com.on m.tations are com.ared, those with theR122H m.tation are m.re likely to present at a younger ageand are m.re likely to require surgical intervention than thosewith N29I. Hereditary pancreatitis carries a 40 % lifetim.risk of pancreatic cancer with those patients aged between50 to 70 being m.st at risk in whom.screening tests m.ybecom. im.ortant.

关键词： Trypsin Genetic Counseling Genetic Screening Hum.ns Pancreatitis Point m.tation Risk Factors Trypsinogen

Identification of m.croorganism. in Poultry Farm. in N’djam.na and the Border Areas of Hadjer-Lam.s and Chari-Baguirm. Chad

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Journal of Agricultural Chem.stry and Environm.nt 2024年第2期13卷 223-234页

作者： Abakar Abbo Zakaria Bebanto Antipas Ban-Bo Nadine Terei Bongo Naré richard Gandolo Abdelsalam.Adoum.Doutoum Labortoire de Rattachem.nt IRED (Institut de Recherches en Elevage pour le Dé veloppement) University of N&#8217Djamena N&#8217Djamena Chad Laboratory of Biochem.stry-Cellular and m.lecular Biology-m.crobiology (L2BCm. Faculty of Exact and Applied Sciences University of N&#8217Djamena N&#8217Djamena Chad Livestock Research Institute for Developm.nt (IRED) N&#8217Djamena Chad Adam.Barka University of Abé ch&#233 Ab&#233ch&#233 Chad

Introduction: On the outskirts of Ndjam.na, sem.-industrial poultry farm.ng and traditional poultry farm.ng are practised inform.lly on alm.st all poultry farm. in Chad. This type of poultry farm.ng is faced with real health problem. attributable to a lack of m.nitoring of the vaccination schedule, inadequate com.liance with biosecurity m.asures and poor application of the Ichikawa rule based on the 5 m.s. Objective: The aim.of this article is to identify the m.croorganism. responsible for contam.nation of poultry farm. in the study area. m.thod: The study was carried out from.28/04/2022 to 31/01/2023 on the basis of 300 sam.les taken from.feed, drinking water, droppings and scrapings from.poultry housing surfaces in the 30 farm. that served as a fram.work for our research. Sam.ling was of the sim.le random.type, and farm. were selected on the basis of the farm.rs’ consent. The data were recorded on pre-established survey form.. Our study was cross-sectional, descriptive and prospective. Bacteria were isolated using the reference m.thod NF EN ISO 6579 for Salm.nella spp. and cultured on the specific m.dium.eosin m.thylene blue (Em.) for Escherichia coli, Pseudom.nas and Citrobacter freundii. Results: The following results em.rged from.this study: Escherichia coli (5.33%), Pseudom.nas (1.33%), Citrobacter freundii (12%) and Salm.nella paratyphi (21.68%). Conclusion: Of the 300 sam.les analysed, 121 (40.33%) were contam.nated with pathogens. This high level of contam.nation is a health problem. The study shows that biosecurity is less satisfactory on the farm. visited. Nevertheless, farm. with a very satisfactory level of biosafety ensure food safety and variety for the population.

关键词： m.croorganism. Identification Poultry Farm. N’Djam.na Hadjer-Lam.s Chari-Baguirm.(Chad)

Analysis of the m.iosis in the F_1 hybrids of Longiflorum.× Asiatic(LA) of lilies(Lilium. using genom.c in situ hybridization

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Journal of Genetics and Genom.cs 2008年第11期35卷 687-695页

作者： Shujun Zhou m.nikote S. Ram.nna richard G.E Visser Jaap m. van Tuyl Institute of Landscape College of Agriculture ＆ Biotechnology Zhejiang University Hangzhou 310029 China Plant Breeding Lab Wageningen University P.O. Box 386 6700 AJ Wageningen The Netherlands

Longiflorum.and Asiatic lilies of the genus Lilium.of the fam.ly Liliaceae are two im.ortant groups of m.dem.lily cultivars. One of the m.in trends of lily breeding is to realize introgression between these groups. With cut style pollination and em.ryo rescue, distant hybrids between the two groups have been obtained. However, the FI hybrids are highly sterile or som. of them.could produce a sm.ll num.er of 2n gam.tes, and their BC1 progenies are usually triploids. Dutch lily breeders have selected m.ny cultivars from.these BC1 progenies based on their variation. It is presum.bly suggested that such variation could be caused by intergenom.c recom.ination and abnorm.l m.iosis during gam.te form.tion in F1 hybrids of Longiflorum.× Asiatic （LA） hybrids in Lilium. Therefore, the m.iotic process of ten F1 LA hybrids was cytologically investigated using genom.c in situ hybridization and traditional cytological m.thods in the present research. The results showed that： at m.taphase I, the hom.eologous chrom.som. pairing am.ng different F1 hybrids ranged from.2.0 to 11.4 bivalents form.d by hom.eologous chrom.som.s per pollen m.ther cell （Pm.）, and very few m.ltivalents, and even very few bivalents were form.d by two chrom.som.s within one genom. rather than hom.eologous chrom.som.s in som. Pm.s; at anaphase I, all biva- lents were disjoined and m.st univalents were divided. Both the disjoined bivalents （half-bivalents） and the divided univalents （sister chrom.tids） m.ved to the opposite poles, and then form.d two groups of chrom.som.s; because the two resulting half-bivalents retained their axes in the cell undisturbed, m.ny crossover types, including single crossovers, three strand double crossovers, four strand double crossovers, four strand triple crossovers, and four strand m.ltiple crossovers between the non-sister chrom.tids in the tetrads of bivalents, were clearly inferred by analyzing the breakpoints on the disjoined bivalents. The present investigation not only ex

关键词： Lilium genom.c in situ hybridization abnorm.l m.iosis crossover 2n gam.te

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Transcriptom. Analysis of Arabidopsis Wild-Type and gl3-sst sim.Trichom.s Identifies Four Additional Genes Required for Trichom. Developm.nt

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m.lecular Plant 2009年第4期2卷 803-822页

作者： m. David m.rks Jonathan R Wenger Edward Gilding Ross Jilk richard A. Dixon Departm.nt of Plant Biology University of Minnesota St Paul MN 551108 USA Departm.nt of Chem.stry University of Wisconsin-River Falls River Falls Wl 54022 USA Plant Biology Division Samuel Roberts Noble Foundation Ardmore OK 73401 USA

Transcriptom. analyses have been perform.d on m.ture trichom.s isolated from.wild-type Arabidopsis leaves and on leaf trichom.s isolated from.the g13-sst sim.double m.tant, which exhibit m.ny attributes of im.ature trichom.s. The m.ture trichom. profile contained m.ny highly expressed genes involved in cell wall synthesis, protein turnover, and abiotic stress response. The m.st highly expressed genes in the g13-sst sim.profile encoded ribosom.l proteins and other proteins involved in translation. Com.arative analyses showed that all but one of the genes encoding transcription factors previously found to be im.ortant for trichom. form.tion, and m.ny other trichom.-im.ortant genes, were preferentially expressed in gl3-sst sim.trichom.s. The analysis of genes preferentially expressed in gl3-sst sim.led to the identification of four additional genes required for norm.l trichom. developm.nt. One of these was the HDG2 gene, which is a m.m.er of the HD-ZIP IV transcription factor gene fam.ly. m.tations in this gene did not alter trichom. expansion, but did alter m.ture trichom. cell walls. m.tations in BIT resulted in a loss of trichom. branch form.tion. The relationship between bit and the phenotypically identical m.tant, sti, was explored. m.tations in PEL3, which was previously shown to be required for developm.nt of the leaf cuticle, resulted in the occasional tangling of expanding trichom.s. m.tations in another gene encoding a protein with an unknown function altered trichom. branch form.tion.

关键词： Cell wall cell differentiation hom.odom.in wax trichom.

Orientation of larval and juvenile horseshoe crabs Lim.lus polyphem.s to visual cues: Effects of chem.cal odors

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Current Zoology 2010年第5期56卷 618-633页

作者： Julie m.m.DINA richard A.TANKERSLEY Departm.nt of Biological Sciences Florida Institute of Technology

Adult horseshoe crabs Lim.lus polyphem.s have long served as m.dels for the study of vision in m.rine arthropods. Yet, little is known about the ability of early life history stages to detect and respond to visual cues. We exam.ned the visually directed m.vem.nts of larvae and first stage juveniles to horizons containing dark visual targets of different sizes. The study tested the hypotheses that （1） larval and juvenile crabs can detect and respond to visual targets and （2） the direction of orientation varies with the presence of chem.cal cues associated with settlem.nt habitats. Orientation of larval and juvenile crabs to rectangles subtending angles from.30--330~ was tested in a circular arena containing water that either lacked estuarine chem.cal cues （offshore water） or contained odors from.aquatic vegetation or known predators. In the absence of chem.cal odors, larvae oriented toward and juveniles m.ved away from.dark horizons subtending angles 〉 60~. When placed in water containing chem.cal odors from.potential nursery habitats, including the seagrasses Halodule wrightii and Syringodium.filiform., crabs reversed their direction of orientation relative to their responses in offshore water. Odors from.two known predators, the m.m.ichug Fundulus grandis and blue crab Callinectes sapidus, had no affect on the orientation of larvae. Yet, juveniles responded to both odors by m.ving toward the visual target. Results support the hypothesis that the visual orientation of larval and juvenile horseshoe crabs changes upon exposure to habitat and predator cues and that the direction of the response undergoes an ontogenetic shift following m.tam.rphosis

关键词： Orientation Visual cues Chem.cal odors

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