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| 1 | 染色体异常与男性不育显示文摘不育问题惊人地困扰着15%想要组建新家庭的人群。尽管如此,不育的分子遗传因素大多还不清楚。不过,越来越多不育遗传因素正逐渐被发现。本综述主要讨论目前了解的男性不育的染色体因素,尤其是染色体非整倍体、染色体组型的结构和数量异常和Y染色体微缺失。染色体非整倍体是人类流产和发育残疾的主要原因。非整倍体主要起源于母体,但是人们正在关注单精子注射的安全性,因为不育男性的精子非整倍体水平明显比起配偶高。染色体组型结构和数量异常的男性产生非整倍体精子的风险也越来越高。本文还综述了精子非整倍体如何被翻译至胚胎非整倍体,以及植入前基因诊断在这些病例中的应用。如果可能,文章还会做一下临床方面的建议,并讨论一些新兴的阵列技术在植入前基因诊断中使用以及在男性不育的潜在应用。 | Gary L Harton Helen G Tempest | 2012 | Asian Journal of Andrology2012，14，1： | 25 |
| 2 | Counter-regulatory phosphatases TNAP and NPP1 temporally regulate tooth root cementogenesis显示文摘Cementum is critical for anchoring the insertion of periodontal ligament fibers to the tooth root. Several aspects of cementogenesis remain unclear, including differences between acellular cementum and cellular cementum, and between cementum and bone.Biomineralization is regulated by the ratio of inorganic phosphate(Pi) to mineral inhibitor pyrophosphate(PPi), where local Piand PPi concentrations are controlled by phosphatases including tissue-nonspecific alkaline phosphatase(TNAP) and ectonucleotide pyrophosphatase/phosphodiesterase 1(NPP1). The focus of this study was to define the roles of these phosphatases in cementogenesis. TNAP was associated with earliest cementoblasts near forming acellular and cellular cementum. With loss of TNAP in the Alpl null mouse, acellular cementum was inhibited, while cellular cementum production increased, albeit as hypomineralized cementoid. In contrast, NPP1 was detected in cementoblasts after acellular cementum formation, and at low levels around cellular cementum. Loss of NPP1 in the Enpp1 null mouse increased acellular cementum, with little effect on cellular cementum.Developmental patterns were recapitulated in a mouse model for acellular cementum regeneration, with early TNAP expression and later NPP1 expression. In vitro, cementoblasts expressed Alpl gene/protein early, whereas Enpp1 gene/protein expression was significantly induced only under mineralization conditions. These patterns were confirmed in human teeth, including widespread TNAP, and NPP1 restricted to cementoblasts lining acellular cementum. These studies suggest that early TNAP expression creates a low PPienvironment promoting acellular cementum initiation, while later NPP1 expression increases PPi, restricting acellular cementum apposition. Alterations in PPihave little effect on cellular cementum formation, though matrix mineralization is affected. | Laura E Zweifler Mudita K Patel Francisco H Nociti Jr Helen F Wimer Jose L Milln Martha J Somerman Brian L Foster | 2015 | International Journal of Oral Science2015，7，1： | 5 |
| 3 | Apple dwarfing rootstocks exhibit an imbalance in carbohydrate allocation and reduced cell growth and metabolism显示文摘Apple dwarfing rootstocks cause earlier shoot termination and reduced root and shoot mass.To identify physiological factors responsible for rootstock-induced growth restriction,we compared vascular-enriched gene expression between two dwarfing rootstocks(‘M27’and‘M9’)and the vigorous rootstock‘M793’using RNA sequencing and quantitative reverse transcriptase PCR.Differentially expressed genes common to both dwarfing rootstocks belonged to five main biological processes:(1)primary metabolism,(2)cell wall synthesis and modification,(3)secondary metabolism,(4)hormone signalling and response and(5)redox homeostasis.Genes promoting the biosynthesis of amino acids,lipids and cell walls were downregulated in dwarfing rootstocks,whereas genes promoting the breakdown of these compounds were upregulated.The only exception to this trend was the upregulation of starch synthesis genes in dwarfing rootstocks.Non-structural carbohydrate analysis demonstrated that starch concentrations in‘M9’roots,stems and grafted‘Royal Gala’(‘RG’)scions were double that of equivalent tissues from‘RG’homo-grafted trees(‘RG’/‘RG’).Fructose and glucose concentrations were much lower in all three tissues of the‘RG’/‘M9’trees.Together,these data indicate that dwarfing rootstocks are in a state of sugar depletion and reduced cellular activity despite having large starch reserves.Another significant finding was the over-accumulation of flavonoids and the downregulation of auxin influx transporters MdAUX1 and MdLAX2 in dwarfing rootstocks.We propose that both factors reduce polar auxin transport.The results of this study contribute novel information about the physiological state of dwarfing rootstocks. | Toshi M Foster Peter A McAtee Chethi N Waite Helen L Boldingh Tony K McGhie | 2017 | Horticulture Research2017，4，1： | 4 |
| 4 | Nat Genet:单基因突变导致过敏性皮炎的发生显示文摘最近,研究者们鉴定出了一类导致神经性皮炎发生的关键基因突变:CARDll。来自美国NIH过敏与传染病研究所的研究者们通过对四个没有血缘关系的患病家庭进行分析,发现了这一导致疾病产生的基因、 | Chi A Ma, Yuan Zhang, Michael A Weinreich, Jonathan J Lyons, Celeste G Nelson, Thomas DiMaggio, Kelly D Stone, Joshua D Milner Jeffrey R Stinson, Elisa Ruffo, Batsukh Dorjbal, Swadhinya Arjunaraja, Kelsey Voss, Andrew L Snow Jordan K Abbott, Pia J Hauk, Paul R Reynolds, Erwin W Gelfand Elisa Ruffo Salomé Glauzy, Natsuko Yamakawa, Eric Meffre Jennifer Stoddard, Julie Niemela, Sergio D Rosenzweig Yu Zhang, Helen F Matthews Joshua J McElwee Nina Jones Alejandro Palma, Matías Oleastro, Emma Prieto, Andrea R Bernasconi, Geronimo Dubra, Silvia Danielian, Jonathan Zaiat, Marcelo A Marti Brian Kim Megan A Cooper Neil Romberg | 2017 | 现代生物医学进展2017，17，27： | 3 |
| 5 | Magnetoelectric and converse magnetoelectric responses in Tb_xDy_(1-x)Fe_(2-y) alloy & Pb(Mg_(1/3)Nb_(2/3))_(1-x)Ti_xO_3 crystal laminated composites显示文摘Measured results of magnetoelectric (ME) and converse magnetoelectric (CME) effects of TbxDy1-xFe2-y/ Pb(Mg1/3Nb2/3)(1-x)TixO3/TbxDy1-xFe2-y (TD/PMNT/TD) and PMNT/TD/PMNT laminated composites are pre- sented. ME effect was determined by measuring laminate voltage output under a Helmholtz-gener- ated AC field biased by a DC field (0―1 kOe) (1 Oe = 79.58 A/m). The CME effect was measured by re- cording the voltage induced in a solenoid encompassing the ME sample while exposed to a DC bias field and PMNT layer driven by a 10 V AC source. The ME and CME responses in the two laminated structure are linear. The highest values of ME coefficients in TD/PMNT/TD and PMNT/TD/PMNT com- posites are 384 mV/Oe and 158 mV/Oe, respectively, while the highest values of CME coefficients in the two composites are 118 mG/V and 162 mG/V (1 G=10-4 T), respectively. | JIA YanMin LUO HaoSu OR Siu Wing WANG YaoJin CHAN Helen L W | 2008 | Chinese Science Bulletin2008，53，14： | 3 |
| 6 | 复合材料Terfenol-D/PMNT的磁电和逆磁电响应显示文摘给出了Terfenol-D/PMN-PT/Terfenol-D(TD/PMNT/TD)和PMNT/TD/PMNT两种层状复合材料的磁电和逆磁电响应的测试方法和测试结果.这两种复合结构的优化直流偏置磁场大小均为350Oe(1Oe=79.58A/m).在1kHz频率下,这两种复合材料的最大磁电电压系数分别为384mV/Oe和158mV/Oe,最大逆磁电系数分别为118mG/V和162mG/V(1G=10-4T).另外研究了这两种复合材料在谐振频率下的磁电响应.通过对两种复合结构的比较得知,磁致/压电/磁致复合结构具有好的磁电响应;而压电/磁致/压电复合结构具有好的逆磁电响应.这一结果有助于优化设计高性能压电/磁致复合磁电材料. | 贾艳敏 罗豪甦 Or Siu Wing 汪尧进 Chan Helen L W | 2008 | 科学通报2008，53，10： | 3 |
| 7 | Tumor cells educate mesenchymal stromal cells to release chemoprotective and immunomodulatory factors显示文摘Factors released by surrounding cells such as cancer-associated mesenchymal stromal cells(CA-MSCs)are involved in tumor progression and chemoresistance.In this study,we characterize the mechanisms by which naYve mesenchymal stromal cells(MSCs)can acquire a CA-MSCs phenotype.Ovarian tumor cells trigger the transformation of MSCs to CA-MSCs by expressing pro-tumoral genes implicated in the chemoresistance of cancer cells,resulting in the secretion of high levels of CXC chemokine receptors 1 and 2(CXCR1/2)ligands such as chemokine(C-X-C motif)ligand 1(CXCL1),CXCL2,and interleukin 8(IL-8).CXCR1/2 ligands can also inhibit the immune response against ovarian tumor cells.Indeed,through their released factors,CA-MSCs promote the differentiation of monocytes towards M2 macrophages,which favors tumor progression.When CXCR1/2 receptors are inhibited,these CA-MSC-activated macrophages lose their M2 properties and acquire an anti-tumoral phenotype.Both ex vivo and in vivo,we used a CXCR1/2 inhibitor to sensitize ovarian tumor cells to carboplatin and circumvent the pro-tumoral effects of CA-MSCs.Since high concentrations of CXCR1/2 ligands in patients*blood are associated with chemoresistance,CXCR1/2 inhibition could be a potential therapeutic strategy to revert carboplatin resistance. | Augustin Le Naour Melissa Prat Benolt Thibault Renaud Mével Léa Lemaitre Helene Leray Marie-Veronique Joubert Kimberley Coulson Muriel Golzio Lise Lefevre Eliane Mery Alejandra Martinez Gwénael Ferron Jean-Pierre Delord Agnès Coste Bettina Couderc | 2020 | Journal of Molecular Cell Biology2020，12，3： | 3 |
| 8 | Macrophage secretory products induce an inflammatory phenotype in hepatocytes显示文摘AIM:To investigate the influence of macrophages on hepatocyte phenotype and function.METHODS:Macrophages were differentiated from THP-1 monocytes via phorbol myristate acetate stimulation and the effects of monocyte or macrophageconditioned medium on HepG2 mRNA and protein expression determined.The in vivo relevance of these findings was confirmed using liver biopsies from 147 patients with hepatitis C virus(HCV)infection.RESULTS:Conditioned media from macrophages,but not monocytes,induced a transient morphological change in hepatocytes associated with upregulation of vimentin(7.8±2.5-fold,P=0.045)and transforming growth factor(TGF)-β1(2.6±0.2-fold,P<0.001)and downregulation of epithelial cadherin(1.7±0.02-fold,P=0.017)mRNA expression.Microarray analysis revealed significant upregulation of lipocalin-2(17-fold,P <0.001)and pathways associated with inflammation,and substantial downregulation of pathways related to hepatocyte function.In patients with chronic HCV,realtime polymerase chain reaction and immunohistochemistry confirmed an increase in lipocalin-2 mRNA(F0 1.0 ±0.3,F1 2.2±0.2,F2 3.0±9.3,F3/4 4.0±0.8,P= 0.003)and protein expression(F1 1.0±0.5,F2 1.3± 0.4,F3/4 3.6±0.4,P=0.014)with increasing liver injury.High performance liquid chromatography-tandem mass spectrometry analysis identified elevated levels of matrix metalloproteinase(MMP)-9 in macrophageconditioned medium,and a chemical inhibitor of MMP-9 attenuated the change in morphology and mRNA expression of TGF-β1(2.9±0.2 vs 1.04±0.1,P<0.001) in macrophage-conditioned media treated HepG2 cells.In patients with chronic HCV infection,hepatic mRNA expression of CD163(F0 1.0±0.2,F1/2 2.8±0.3,F3/4 5.3±1.0,P=0.001)and MMP-9(F0 1.0±0.4,F1/2 2.8±0.3,F3/4 4.1±0.8,P=0.011)was significantly associated with increasing stage of fibrosis.CONCLUSION:Secreted macrophage products alter the phenotype and function of hepatocytes,with increased expression of inflammatory mediators,suggesting that hepatocytes actively participate in liver injury. | Michelle Melino Victoria L Gadd Gene V Walker Richard Skoien Helen D Barrie Dinesh Jothimani Leigh Horsfall Alun Jones Matthew J Sweet Gethin P Thomas Andrew D Clouston Julie R Jonsson Elizabeth E Powell | 2012 | World Journal of Gastroenterology2012，18，15： | 3 |
| 9 | Diagnostic accuracy of tests for Helicobacter pylori in an Alaska Native population显示文摘AIM:To evaluate the accuracy of two non-invasivetests in a population of Alaska Native persons. Highrates of Helico bacter pylori(H. pylori) infection,H. pylori treatment failure,and gastric cancer in this population necessitate documentation of infection status atmultiple time points over a patient's life.METHODS:In 280 patients undergoing endoscopy,H. pylori was diagnosed by culture,histology,rapidurease test,13C urea breath test(UBT) ,and immuno-globulin G antibodies to H. pylori in serum. The performances of 13C-UBT and antibody test were compared to a gold standard defined by a positive H. pylori testby culture or,in case of a negative culture result,bypositive histology and a positive rapid urease test.RESULTS:The sensitivity and specificity of the 13C-UBT were 93% and 88%,respectively,relative to thegold standard. The antibody test had an equivalents ensitivity of 93% with a reduced specificity of 68%.The false positive results for the antibody test were as-sociated with previous treatment for an H. pylori infection [relative risk(RR) = 2.8]. High levels of antibodiesto H. pylori were associated with chronic gastritis and male gender,while high scores in the 13C-UBT testwere associated with older age and with the H. pyloribacteria load on histological examination(RR = 4.4) .CONCLUSION:The 13C-UBT out performed the anti-body test for H. pylori and could be used when a non-invasive test is clinically necessary to document treatment out come or when monitoring for reinfection. | Dana L Bruden Michael G Bruce Karen M Miernyk Julie Morris Debby Hurlburt Thomas W Hennessy Helen Peters Frank Sacco Alan J Parkinson Brian J McMahon | 2011 | World Journal of Gastroenterology2011，17，42： | 3 |
| 10 | Xylanase, protease and superdosing phytase interactions in broiler performance, carcass yield and digesta transit time显示文摘The interaction of xylanase, protease and superdosing(1,500 FTU/kg) phytase in a 2×2×2 factorial arrangement was studied in broilers fed sorghum-based diets. A total of 2,800 one-day-old unsexed Ross308 chicks were housed in 56 pens with 50 birds per pen, with or without inclusion of xylanase, protease and phytase, totaling 8 treatments and 7 replicates per treatment. Body weight(BW) and feed intake(FI)were measured at 21 and 42 days of age, and mortality corrected feed conversion ratio(FCR) was calculated for each period and cumulatively. Tibia ash and carcass yield were determined in 2 birds per replicate at 21 and 42 days of age, respectively. Digesta transit time was determined at 21, 28, 35 and 42 days of age using 5 birds per replicate. Results showed that superdosing phytase increased BW and FI at42 days of age(P < 0.05) and xylanase improved FCR(P < 0.05). Xylanase and phytase also positively influenced carcass yield and breast weight, respectively. Overall, inclusion of superdosing phytase increased transit time when included in a diet containing xylanase, and no change with protease inclusion. In conclusion, the beneficial effects of xylanase, protease and superdosing phytase in broiler performance were not additive. This limitation is likely not related to the lack of efficacy of any one of the individual enzymes but to a limitation of the bird to respond additively to successive additions of enzymes. | Tiago T.dos Santos Helen V.Masey O'Neill Gemma González-Ortiz Daniel Camacho-Fernández Carlos López-Coello | 2017 | Animal Nutrition2017，，2： | 2 |
| 11 | Perforated jejunal ulcer associated with gastric mucosa in a jejunal diverticulum显示文摘Jejunal diverticula are rare and subsequent complications even more so. The usual small bowel diverticulum encountered by general surgeons is a Meckel's. These are embryological remnants of the vitello-intestinal duct and are on the anti-mesenteric surface of the terminal ileum. They may contain heterotopic gastric or pancreatic mucosa. Herein we explore the case of a young girl who presented with features of peritonitis secondary to a complication from a jejunal diverticulum. The case, pathology, complications and treatment of jejunal diverticulosis and heterotopic gastric mucosa in the jejunum are explored. | John Bunni Helen L Barrett Tim A Cook | 2014 | World Journal of Clinical Cases2014，2，6： | 2 |
| 12 | Evolving role of magnetic resonance techniques in primary sclerosing cholangitis显示文摘Development of non-invasive methods to risk-stratify patients and predict clinical endpoints have been identified as one of the key research priorities in primary sclerosing cholangitis(PSC). In addition to serum and histological biomarkers, there has been much recent interest in developing imaging biomarkers that can predict disease course and clinical outcomes in PSC.Magnetic resonance imaging/magnetic resonance cholangiopancreatography(MRI/MRCP) continue to play a central role in the diagnosis and follow-up of PSC patients. Magnetic resonance(MR) techniques have undergone significant advancement over the last three decades both in MR data acquisition and interpretation. The progression from a qualitative to quantitative approach in MR acquisition techniques and data interpretation, offers the opportunity for the development of objective and reproducible imaging biomarkers that can potentially be incorporated as an additional endpoint in clinical trials. This review article will discuss how the role of MR techniques have evolved over the last three decades from emerging as an alternative diagnostic tool to endoscopic retrograde cholangiopancreatography, to being instrumental in the ongoing search for imaging biomarker of disease stage, progression and prognosis in PSC. | Emmanuel A Selvaraj Emma L Culver Helen Bungay Adam Bailey Roger W Chapman Michael Pavlides | 2019 | World Journal of Gastroenterology2019，25，6： | 2 |
| 13 | Causes of encephalitis and differences in their clinical presentations in England: a multicentre, population-based prospective study显示文摘 | Julia Granerod Helen E Ambrose Nicholas WS Davies Jonathan P Clewley Amanda L Walsh Dilys Morgan Richard Cunningham Mark Zuckerman Ken J Mutton Tom Solomon Katherine N Ward Michael PT Lunn Sarosh R Irani Angela Vincent David WG Brown Natasha S Crowcroft | 2010 | The Lancet Infectious Diseases2010，，12： | 2 |
| 14 | Exogenous cytokinin application to Actinidia chinensis var. deliciosa ‘Hayward’ fruit promotes fruit expansion through water uptake显示文摘Exogenous application of a cytokinin-like compound forchlorfenuron(CPPU)can promote fruit growth,although often at the expense of dry matter(DM),an important indicator of fruit quality.Actinidia chinensis var.deliciosa‘Hayward’fruit are very responsive to CPPU treatments,but the mechanism underlying the significant fruit weight increase and associated decrease in DM is unclear.In this study,we hypothesised that CPPU-enhanced growth increases fruit carbohydrate demand,but limited carbohydrate supply resulted in decreased fruit DM.During fruit development,CPPU effects on physical parameters,metabolites,osmotic pressure and transcriptional changes were assessed under conditions of both standard and a high carbohydrate supply.We showed that CPPU increased fruit fresh weight but the dramatic DM decrease was not carbohydrate limited.Enhanced glucose and fructose concentrations contributed to an increase in soluble carbohydrate osmotic pressure,which was correlated with increased water accumulation in CPPU-treated fruit and up-regulation of water channel aquaporin gene PIP2.4 at 49 days after anthesis.Transcipt analysis suggested that the molecular mechanism contributing to increased glucose and fructose concentrations was altered by carbohydrate supply.At standard carbohydrate supply,the early glucose increase in CPPU fruit was associated with reduced starch synthesis and increased starch degradation.When carbohydrate supply was high,the early glucose increase in CPPU fruit was associated with a general decrease in starch synthesis but up-regulation of vacuolar invertase and fructokinase genes.We conclude that CPPU affected fruit expansion by increasing the osmotically-driven water uptake and its effect was not carbohydrate supply-limited. | Simona Nardozza Helen L Boldingh Mark W Wohlers Andrew P Gleave Zhiwei Luo Guglielmo Costa Elspeth A MacRae Michael J Clearwater Annette C Richardson | 2017 | Horticulture Research2017，4，1： | 2 |
| 15 | Codon usage and gene function are related in sequences of Arabidopsis thaliana 显示文摘 | Helene C Fred6rique L Michel C Alain H | 1998 | Gene1998，209，： | 1 |
| 16 | Genetic structure of a population of the fungus Leptosphaeria maculans in a dis- ease nursery of Brassica napus in Australia 显示文摘 | Helen L Hayden B arbara J | 2005 | Current genetics2005，，48： | 1 |
| 17 | Silk-based biomaterials显示文摘 | Gregory H Altman Frank Diaz Caroline Jakuba Tara Calabro Rebecca L Horan Jingsong Chen Helen Lu John Richmond David L Kaplan | 2002 | Biomaterials2002，，3： | 1 |
| 18 | 显示文摘 | Helen L Gerhard J | 1998 | Chest1998，114，： | 1 |
| 19 | Comparison between different LiFePO4 synthesis routes and their influence on its physico-chemical properties显示文摘 | SLVSIN F FREDEREC L C CAROLE B HELENE R | 2003 | J Power Source2003，，： | 1 |
| 20 | Three-Dimensional Culture of Annulus Fibrosus Cells within PDLLA/Bioglass ? Composite Foam Scaffolds; Assessment of Cell Attachment, Proliferation and Extracellular Matrix Production 显示文摘 | Helen W Merry C L R Blaker J J | 2007 | Biomaterials2007，28，11： | 1 |
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