Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease.

abstract：:MG53 promotes sarcolemmal repair in the mdx mouse model of Duchenne muscular dystrophy (Weisleder et al., this issue) and identifies a new protein therapeutic for muscle disease. ...

journal_title：Science translational medicine

authors： Burkin DJ,Wuebbles RD

更新日期：2012-06-20 00:00:00

abstract：:A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological evidence of heteroto...

journal_title：Science translational medicine

authors： Parker WE,Orlova KA,Parker WH,Birnbaum JF,Krymskaya VP,Goncharov DA,Baybis M,Helfferich J,Okochi K,Strauss KA,Crino PB

更新日期：2013-04-24 00:00:00

abstract：:Adding an electrical pulse to a microfluidic device that squeezes cells through narrow channels efficiently delivers DNA to the nucleus. ...

journal_title：Science translational medicine

authors： King KR

更新日期：2017-03-22 00:00:00

abstract：:The aim of treatment in congenital adrenal hyperplasia is to suppress excess adrenal androgens while achieving physiological glucocorticoid replacement. However, current glucocorticoid replacement regimes are inadequate because doses sufficient to suppress excess androgens almost invariably induce adverse metabolic ef...

journal_title：Science translational medicine

authors： Nixon M,Mackenzie SD,Taylor AI,Homer NZ,Livingstone DE,Mouras R,Morgan RA,Mole DJ,Stimson RH,Reynolds RM,Elfick AP,Andrew R,Walker BR

更新日期：2016-08-17 00:00:00

abstract：:Women with Marfan syndrome (MFS) are at high risk for pregnancy-associated aortic dissection. Pathogenic models that singularly invoke hemodynamic stress are difficult to reconcile with predominant postnatal occurrence of aortic tear, often occurring weeks to months after delivery. In consideration of events that peak...

journal_title：Science translational medicine

authors： Habashi JP,MacFarlane EG,Bagirzadeh R,Bowen C,Huso N,Chen Y,Bedja D,Creamer TJ,Rykiel G,Manning M,Huso D,Dietz HC

更新日期：2019-05-01 00:00:00

abstract：:The invasive nature of glioblastoma (GBM) represents a major clinical challenge contributing to poor outcomes. Invasion of GBM into healthy tissue restricts chemotherapeutic access and complicates surgical resection. Here, we test the hypothesis that an effective anti-invasive agent can "contain" GBM and increase the ...

journal_title：Science translational medicine

authors： Munson JM,Fried L,Rowson SA,Bonner MY,Karumbaiah L,Diaz B,Courtneidge SA,Knaus UG,Brat DJ,Arbiser JL,Bellamkonda RV

更新日期：2012-03-28 00:00:00

abstract：:Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition characterized by developmentally atypical and impairing inattention, hyperactivity, and impulsiveness. We identified de novo and rare copy number variations (CNVs) in 248 unrelated ADHD patients using million-feature genotyping arrays...

journal_title：Science translational medicine

authors： Lionel AC,Crosbie J,Barbosa N,Goodale T,Thiruvahindrapuram B,Rickaby J,Gazzellone M,Carson AR,Howe JL,Wang Z,Wei J,Stewart AF,Roberts R,McPherson R,Fiebig A,Franke A,Schreiber S,Zwaigenbaum L,Fernandez BA,Roberts W

更新日期：2011-08-10 00:00:00

abstract：:An oncolytic vaccinia virus expressing CXCL11 combined with PD-L1 blockade significantly reduces tumor burden and improves survival in murine cancer models. ...

journal_title：Science translational medicine

authors： Jonas BA

更新日期：2017-04-19 00:00:00

abstract：:As the prevalence of Alzheimer's disease (AD) grows, so do the costs it imposes on society. Scientific, clinical, and financial interests have focused current drug discovery efforts largely on the single biological pathway that leads to amyloid deposition. This effort has resulted in slow progress and disappointing ou...

journal_title：Science translational medicine

authors： Lo AW,Ho C,Cummings J,Kosik KS

更新日期：2014-06-18 00:00:00

abstract：:Advanced ovarian cancer is frequently treated with combination chemotherapy, but high recurrence rates show the need for therapies that can produce durable responses and extend overall survival. Bispecific antibodies that interact with tumor antigens on cancer cells and activating receptors on immune cells offer an in...

journal_title：Science translational medicine

authors： Crawford A,Haber L,Kelly MP,Vazzana K,Canova L,Ram P,Pawashe A,Finney J,Jalal S,Chiu D,Colleton CA,Garnova E,Makonnen S,Hickey C,Krueger P,DelFino F,Potocky T,Kuhnert J,Godin S,Retter MW,Duramad P,MacDonald D,

更新日期：2019-06-19 00:00:00

abstract：:Biallelic mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a disease characterized by calcification in the skin, eyes, and blood vessels. The function of ATP-binding cassette C6 (ABCC6) and the pathogenesis of PXE remain unclear. We used mouse models and patient fibroblasts to demonstrate genetic interaction a...

journal_title：Science translational medicine

authors： Ziegler SG,Ferreira CR,MacFarlane EG,Riddle RC,Tomlinson RE,Chew EY,Martin L,Ma CT,Sergienko E,Pinkerton AB,Millán JL,Gahl WA,Dietz HC

更新日期：2017-06-07 00:00:00

abstract：:Recent studies have established the involvement of the fat mass and obesity-associated gene (FTO) in metabolic disorders such as obesity and diabetes. However, the precise molecular mechanism by which FTO regulates metabolism remains unknown. Here, we used a structure-based virtual screening of U.S. Food and Drug Admi...

journal_title：Science translational medicine

authors： Peng S,Xiao W,Ju D,Sun B,Hou N,Liu Q,Wang Y,Zhao H,Gao C,Zhang S,Cao R,Li P,Huang H,Ma Y,Wang Y,Lai W,Ma Z,Zhang W,Huang S,Wang H,Zhang Z,Zhao L,Cai T,Zhao YL,Wang F,Nie Y,Zhi G,Yang YG,Zhang EE,

更新日期：2019-04-17 00:00:00

abstract：:Acute graft-versus-host disease (aGVHD) results from a robust response of donor T cells transferred during hematopoietic stem cell transplantation (HSCT) to allogeneic peptide-major histocompatibility complex antigens. Previous investigations have not identified T cell subsets that selectively mediate either protectiv...

journal_title：Science translational medicine

authors： Morris GP,Uy GL,Donermeyer D,Dipersio JF,Allen PM

更新日期：2013-06-05 00:00:00

abstract：:Disease-free infection in HIV-infected adults is associated with human leukocyte antigen-mediated suppression of viremia, whereas in the sooty mangabey and other healthy natural hosts of simian immunodeficiency virus (SIV), viral replication continues unabated. To better understand factors preventing HIV disease, we i...

journal_title：Science translational medicine

authors： Muenchhoff M,Adland E,Karimanzira O,Crowther C,Pace M,Csala A,Leitman E,Moonsamy A,McGregor C,Hurst J,Groll A,Mori M,Sinmyee S,Thobakgale C,Tudor-Williams G,Prendergast AJ,Kloverpris H,Roider J,Leslie A,Shingadia D

更新日期：2016-09-28 00:00:00

abstract：:Increased iron in cancer cells drives selective sensitization of tumors to ascorbate treatment to prolong survival. ...

journal_title：Science translational medicine

authors： Venere M

更新日期：2017-04-12 00:00:00

abstract：:Diabetic patients frequently suffer from continuous pain that is poorly treated by currently available analgesics. We used mouse models of type 1 and type 2 diabetes to investigate a possible role for the hyperpolarization-activated cyclic nucleotide-gated 2 (HCN2) ion channels as drivers of diabetic pain. Blocking or...

journal_title：Science translational medicine

authors： Tsantoulas C,Laínez S,Wong S,Mehta I,Vilar B,McNaughton PA

更新日期：2017-09-27 00:00:00

abstract：:We outline the fundamental properties of a highly participatory rapid learning system that can be developed in part from meaningful use of electronic health records (EHRs). Future widespread adoption of EHRs will make increasing amounts of medical information available in computable form. Secured and trusted use of th...

journal_title：Science translational medicine

authors： Friedman CP,Wong AK,Blumenthal D

更新日期：2010-11-10 00:00:00

abstract：:Clinical proteomics has yielded some early positive results-the identification of potential disease biomarkers-indicating the promise for this analytical approach to improve the current state of the art in clinical practice. However, the inability to verify some candidate molecules in subsequent studies has led to ske...

journal_title：Science translational medicine

authors： Mischak H,Allmaier G,Apweiler R,Attwood T,Baumann M,Benigni A,Bennett SE,Bischoff R,Bongcam-Rudloff E,Capasso G,Coon JJ,D'Haese P,Dominiczak AF,Dakna M,Dihazi H,Ehrich JH,Fernandez-Llama P,Fliser D,Frokiaer J,Garin

更新日期：2010-08-25 00:00:00

abstract：:Advances in health information technology and electronic medical records have the tremendous potential to accelerate translational and clinical research. However, privacy concerns threaten to be a rate-limiting factor. By recognizing and responding to patient privacy concerns, policy-makers, researchers, and informati...

journal_title：Science translational medicine

authors： Shelton RH

更新日期：2011-02-09 00:00:00

abstract：:The tumor microenvironment is host to a complex network of cytokines that contribute to shaping the intratumoral immune reaction. Chromosomal gains and losses, coupled with expression analysis, of 59 cytokines and receptors and their functional networks were investigated in colorectal cancers. Changes in local express...

journal_title：Science translational medicine

authors： Mlecnik B,Bindea G,Angell HK,Sasso MS,Obenauf AC,Fredriksen T,Lafontaine L,Bilocq AM,Kirilovsky A,Tosolini M,Waldner M,Berger A,Fridman WH,Rafii A,Valge-Archer V,Pagès F,Speicher MR,Galon J

更新日期：2014-03-19 00:00:00

abstract：:Short-term starvation (or fasting) protects normal cells, mice, and potentially humans from the harmful side effects of a variety of chemotherapy drugs. Here, we show that treatment with starvation conditions sensitized yeast cells (Saccharomyces cerevisiae) expressing the oncogene-like RAS2(val19) to oxidative stress...

journal_title：Science translational medicine

authors： Lee C,Raffaghello L,Brandhorst S,Safdie FM,Bianchi G,Martin-Montalvo A,Pistoia V,Wei M,Hwang S,Merlino A,Emionite L,de Cabo R,Longo VD

更新日期：2012-03-07 00:00:00

abstract：:Systemic lupus erythematosus (SLE) and discoid lupus erythematosus (DLE) of the skin are autoimmune diseases characterized by inappropriate immune responses against self-proteins; the key elements that determine disease pathogenesis and progression are largely unknown. Here, we show that mice lacking immune inhibitory...

journal_title：Science translational medicine

authors： Han X,Vesely MD,Yang W,Sanmamed MF,Badri T,Alawa J,López-Giráldez F,Gaule P,Lee SW,Zhang JP,Nie X,Nassar A,Boto A,Flies DB,Zheng L,Kim TK,Moeckel GW,McNiff JM,Chen L

更新日期：2019-12-11 00:00:00

abstract：:Rapidly spreading antibiotic resistance and the low discovery rate of new antimicrobial compounds demand more effective strategies for early drug discovery. One bottleneck in the drug discovery pipeline is the identification of the modes of action (MoAs) of new compounds. We have developed a rapid systematic metabolom...

journal_title：Science translational medicine

authors： Zampieri M,Szappanos B,Buchieri MV,Trauner A,Piazza I,Picotti P,Gagneux S,Borrell S,Gicquel B,Lelievre J,Papp B,Sauer U

更新日期：2018-02-21 00:00:00

abstract：:In 2013, chikungunya virus (CHIKV) transmission was documented in the Western Hemisphere, and the virus has since spread throughout the Americas with more than 1.8 million people infected in more than 40 countries. CHIKV targets the joints, resulting in symmetric polyarthritis that clinically mimics rheumatoid arthrit...

journal_title：Science translational medicine

authors： Miner JJ,Cook LE,Hong JP,Smith AM,Richner JM,Shimak RM,Young AR,Monte K,Poddar S,Crowe JE Jr,Lenschow DJ,Diamond MS

更新日期：2017-02-01 00:00:00

abstract：:Preclinical data suggest the possibility of repurposing a drug for early intervention in envenoming by snake venom rich in metalloproteinases (Albulescu et al., this issue). ...

journal_title：Science translational medicine

authors： Koh CY,Bendre R,Kini RM

更新日期：2020-05-06 00:00:00

abstract：:Merkel cell polyomavirus (MCV) causes ~80% of primary and metastatic Merkel cell carcinomas (MCCs). By comparing digital transcriptome subtraction deep-sequencing profiles, we found that transcripts of the cellular survivin oncoprotein [BIRC5a (baculoviral inhibitor of apoptosis repeat-containing 5)] were up-regulated...

journal_title：Science translational medicine

authors： Arora R,Shuda M,Guastafierro A,Feng H,Toptan T,Tolstov Y,Normolle D,Vollmer LL,Vogt A,Dömling A,Brodsky JL,Chang Y,Moore PS

更新日期：2012-05-09 00:00:00

abstract：:Despite the very low risk-to-benefit ratio of vaccines, fear of negative side effects has discouraged many people from getting vaccinated, resulting in reemergence of previously controlled diseases such as measles, pertussis, and diphtheria. Part of this fear stems from the lack of public awareness of the many preclin...

journal_title：Science translational medicine

authors： Ahmed SS,Plotkin SA,Black S,Coffman RL

更新日期：2011-07-27 00:00:00

abstract：:Heparin-based anticoagulant drugs have been widely used for the prevention of blood clotting during surgical procedures and for the treatment of thromboembolic events. However, bleeding risks associated with these anticoagulants demand continuous monitoring and neutralization with suitable antidotes. Protamine, the on...

journal_title：Science translational medicine

authors： Shenoi RA,Kalathottukaren MT,Travers RJ,Lai BF,Creagh AL,Lange D,Yu K,Weinhart M,Chew BH,Du C,Brooks DE,Carter CJ,Morrissey JH,Haynes CA,Kizhakkedathu JN

更新日期：2014-10-29 00:00:00

abstract：:Arrhythmogenic cardiomyopathy (ACM) is characterized by frequent cardiac arrhythmias. To elucidate the underlying mechanisms and discover potential chemical modifiers, we created a zebrafish model of ACM with cardiac myocyte-specific expression of the human 2057del2 mutation in the gene encoding plakoglobin. A high-th...

journal_title：Science translational medicine

authors： Asimaki A,Kapoor S,Plovie E,Karin Arndt A,Adams E,Liu Z,James CA,Judge DP,Calkins H,Churko J,Wu JC,MacRae CA,Kléber AG,Saffitz JE

更新日期：2014-06-11 00:00:00

abstract：:Evaluating individual research performance is a complex task that ideally examines productivity, scientific impact, and research quality--a task that metrics alone have been unable to achieve. In January 2011, the French Academy of Sciences published a report on current bibliometric (citation metric) methods for evalu...

journal_title：Science translational medicine

authors： Sahel JA

更新日期：2011-05-25 00:00:00