abstract：:Inherited retinal degenerative diseases, a genetically and phenotypically heterogeneous group of disorders, affect the function of photoreceptor cells and are among the leading causes of blindness. Recent advances in molecular genetics and cell biology are elucidating the pathophysiological mechanisms underlying these...

journal_title：Science translational medicine

authors： Scholl HP,Strauss RW,Singh MS,Dalkara D,Roska B,Picaud S,Sahel JA

更新日期：2016-12-07 00:00:00

abstract：:In populations that have not been selected for family history of disease, it is unclear how commonly pathogenic variants (PVs) in disease-associated genes for rare Mendelian conditions are found and how often they are associated with clinical features of these conditions. We conducted independent, prospective analyses...

journal_title：Science translational medicine

authors： Natarajan P,Gold NB,Bick AG,McLaughlin H,Kraft P,Rehm HL,Peloso GM,Wilson JG,Correa A,Seidman JG,Seidman CE,Kathiresan S,Green RC

更新日期：2016-11-09 00:00:00

abstract：:Pathological angiogenesis is the hallmark of diseases such as cancer and retinopathies. Although tissue hypoxia and inflammation are recognized as central drivers of vessel growth, relatively little is known about the process that bridges the two. In a mouse model of ischemic retinopathy, we found that hypoxic regions...

journal_title：Science translational medicine

authors： Oubaha M,Miloudi K,Dejda A,Guber V,Mawambo G,Germain MA,Bourdel G,Popovic N,Rezende FA,Kaufman RJ,Mallette FA,Sapieha P

更新日期：2016-10-26 00:00:00

abstract：:Inhaled drugs offer advantages, such as rapid onset of action, but require formulations and delivery systems that reproducibly and conveniently administer the drug. CVT-301 is a powder formulation of levodopa delivered by a breath-actuated inhaler that has been developed for treating OFF episodes (motor fluctuations b...

journal_title：Science translational medicine

authors： Lipp MM,Batycky R,Moore J,Leinonen M,Freed MI

更新日期：2016-10-12 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：:New therapeutic approaches are urgently needed to improve survival outcomes for patients with necrotizing pneumonia caused by Staphylococcus aureus One such approach is adjunctive treatment with intravenous immunoglobulin (IVIG), but clinical practice guidelines offer conflicting recommendations. In a preclinical rabb...

journal_title：Science translational medicine

authors： Diep BA,Le VT,Badiou C,Le HN,Pinheiro MG,Duong AH,Wang X,Dip EC,Aguiar-Alves F,Basuino L,Marbach H,Mai TT,Sarda MN,Kajikawa O,Matute-Bello G,Tkaczyk C,Rasigade JP,Sellman BR,Chambers HF,Lina G

更新日期：2016-09-21 00:00:00

abstract：:Imaging, including its use for innovative tissue sampling, is slowly being recognized as playing a pivotal role in drug development, clinical trial design, and more effective delivery and monitoring of molecular therapies. The challenge is that, while a considerable number of new imaging technologies and new targeted ...

journal_title：Science translational medicine

authors： Weissleder R,Schwaiger MC,Gambhir SS,Hricak H

更新日期：2016-09-07 00:00:00

abstract：:Cardiac rhythm is extremely robust, generating 2 billion contraction cycles during the average human life span. Transcriptional control of cardiac rhythm is poorly understood. We found that removal of the transcription factor gene Tbx5 from the adult mouse caused primary spontaneous and sustained atrial fibrillation (...

journal_title：Science translational medicine

authors： Nadadur RD,Broman MT,Boukens B,Mazurek SR,Yang X,van den Boogaard M,Bekeny J,Gadek M,Ward T,Zhang M,Qiao Y,Martin JF,Seidman CE,Seidman J,Christoffels V,Efimov IR,McNally EM,Weber CR,Moskowitz IP

更新日期：2016-08-31 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：:We tested the hypothesis that ex vivo hepatocyte gene therapy can correct the metabolic disorder in fumarylacetoacetate hydrolase-deficient (Fah(-/-)) pigs, a large animal model of hereditary tyrosinemia type 1 (HT1). Recipient Fah(-/-) pigs underwent partial liver resection and hepatocyte isolation by collagenase dig...

journal_title：Science translational medicine

authors： Hickey RD,Mao SA,Glorioso J,Elgilani F,Amiot B,Chen H,Rinaldo P,Marler R,Jiang H,DeGrado TR,Suksanpaisan L,O'Connor MK,Freeman BL,Ibrahim SH,Peng KW,Harding CO,Ho CS,Grompe M,Ikeda Y,Lillegard JB,Russell SJ,Nybe

更新日期：2016-07-27 00:00:00

abstract：:Accumulating evidence has shown that repeated exposure to general anesthesia during critical stages of brain development results in long-lasting behavioral deficits later in life. To date, there has been no effective treatment to mitigate the neurotoxic effects of anesthesia on brain development. By performing calcium...

journal_title：Science translational medicine

authors： Huang L,Cichon J,Ninan I,Yang G

更新日期：2016-06-22 00:00:00

abstract：:Optogenetics offers promise for dissecting the complex neural circuits of the spinal cord and peripheral nervous system and has therapeutic potential for addressing unmet clinical needs. Much progress has been made to enable optogenetic control in normal and disease states, both in proof-of-concept and mechanistic stu...

journal_title：Science translational medicine

authors： Montgomery KL,Iyer SM,Christensen AJ,Deisseroth K,Delp SL

更新日期：2016-05-04 00:00:00

abstract：:In recent years, there has been a growing focus on the unreliability of published biomedical and clinical research. To introduce effective new scientific contributors to the culture of health care, we propose a "datathon" or "hackathon" model in which participants with disparate, but potentially synergistic and comple...

journal_title：Science translational medicine

authors： Aboab J,Celi LA,Charlton P,Feng M,Ghassemi M,Marshall DC,Mayaud L,Naumann T,McCague N,Paik KE,Pollard TJ,Resche-Rigon M,Salciccioli JD,Stone DJ

更新日期：2016-04-06 00:00:00

abstract：:Sporadic inclusion body myositis (sIBM) is the commonest severe myopathy in patients more than 50 years of age. Previous therapeutic trials have targeted the inflammatory features of sIBM but all have failed. Because protein dyshomeostasis may also play a role in sIBM, we tested the effects of targeting this feature o...

journal_title：Science translational medicine

authors： Ahmed M,Machado PM,Miller A,Spicer C,Herbelin L,He J,Noel J,Wang Y,McVey AL,Pasnoor M,Gallagher P,Statland J,Lu CH,Kalmar B,Brady S,Sethi H,Samandouras G,Parton M,Holton JL,Weston A,Collinson L,Taylor JP,Schia

更新日期：2016-03-23 00:00:00

abstract：:Recent studies highlighted long noncoding RNAs (lncRNAs) to play an important role in cardiac development. However, understanding of lncRNAs in cardiac diseases is still limited. Global lncRNA expression profiling indicated that several lncRNA transcripts are deregulated during pressure overload-induced cardiac hypert...

journal_title：Science translational medicine

authors： Viereck J,Kumarswamy R,Foinquinos A,Xiao K,Avramopoulos P,Kunz M,Dittrich M,Maetzig T,Zimmer K,Remke J,Just A,Fendrich J,Scherf K,Bolesani E,Schambach A,Weidemann F,Zweigerdt R,de Windt LJ,Engelhardt S,Dandekar T,

更新日期：2016-02-17 00:00:00

abstract：:Pharmacokinetic and pharmacodynamic models estimate the potency of antiviral agents but do not capture viral and immunologic factors that drive the natural dynamics of infection. We designed a mathematical model that synthesizes pharmacokinetics, pharmacodynamics, and viral pathogenesis concepts to simulate the activi...

journal_title：Science translational medicine

authors： Schiffer JT,Swan DA,Magaret A,Corey L,Wald A,Ossig J,Ruebsamen-Schaeff H,Stoelben S,Timmler B,Zimmermann H,Melhem MR,Van Wart SA,Rubino CM,Birkmann A

更新日期：2016-02-03 00:00:00

abstract：:More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impact of variants in the prion protein gene (PRNP) on the risk of prion ...

journal_title：Science translational medicine

authors： Minikel EV,Vallabh SM,Lek M,Estrada K,Samocha KE,Sathirapongsasuti JF,McLean CY,Tung JY,Yu LP,Gambetti P,Blevins J,Zhang S,Cohen Y,Chen W,Yamada M,Hamaguchi T,Sanjo N,Mizusawa H,Nakamura Y,Kitamoto T,Collins SJ,

更新日期：2016-01-20 00:00:00

abstract：:The U.S.-Latin America Cancer Research Network strives to expand translational research capabilities and forge new collaborations. ...

journal_title：Science translational medicine

authors： Investigators of the US–Latin America Cancer Research Network.

更新日期：2015-12-23 00:00:00

abstract：:Retinal prosthetic implants are the only approved treatment for retinitis pigmentosa, a disease of the eye that causes blindness through gradual degeneration of photoreceptors. An array of microelectrodes triggered by input from a camera stimulates surviving retinal neurons, with each electrode acting as a pixel. Unin...

journal_title：Science translational medicine

authors： Weitz AC,Nanduri D,Behrend MR,Gonzalez-Calle A,Greenberg RJ,Humayun MS,Chow RH,Weiland JD

更新日期：2015-12-16 00:00:00

abstract：:In acute and chronic inflammation, neutrophils and platelets, both of which promote monocyte recruitment, are often activated simultaneously. We investigated how secretory products of neutrophils and platelets synergize to enhance the recruitment of monocytes. We found that neutrophil-borne human neutrophil peptide 1 ...

journal_title：Science translational medicine

authors： Alard JE,Ortega-Gomez A,Wichapong K,Bongiovanni D,Horckmans M,Megens RT,Leoni G,Ferraro B,Rossaint J,Paulin N,Ng J,Ippel H,Suylen D,Hinkel R,Blanchet X,Gaillard F,D'Amico M,von Hundelshausen P,Zarbock A,Scheiermann

更新日期：2015-12-09 00:00:00

abstract：:Pluripotent stem cells are a scalable source of pancreatic cells for transplantation into patients with diabetes. Here, we describe how the field is gaining momentum toward a β cell replacement therapy. ...

journal_title：Science translational medicine

authors： Bruin JE,Rezania A,Kieffer TJ

更新日期：2015-12-02 00:00:00

abstract：:Graft-versus-host disease (GVHD) is the most common complication of hematopoietic stem cell transplant (HCT). However, our understanding of the molecular pathways that cause this disease remains incomplete, leading to inadequate treatment strategies. To address this, we measured the gene expression profile of nonhuman...

journal_title：Science translational medicine

authors： Furlan SN,Watkins B,Tkachev V,Flynn R,Cooley S,Ramakrishnan S,Singh K,Giver C,Hamby K,Stempora L,Garrett A,Chen J,Betz KM,Ziegler CG,Tharp GK,Bosinger SE,Promislow DE,Miller JS,Waller EK,Blazar BR,Kean LS

更新日期：2015-11-25 00:00:00

abstract：:Next-generation sequencing technologies have greatly expanded our understanding of cancer genetics. Antisense technology is an attractive platform with the potential to translate these advances into improved cancer therapeutics, because antisense oligonucleotide (ASO) inhibitors can be designed on the basis of gene se...

journal_title：Science translational medicine

authors： Hong D,Kurzrock R,Kim Y,Woessner R,Younes A,Nemunaitis J,Fowler N,Zhou T,Schmidt J,Jo M,Lee SJ,Yamashita M,Hughes SG,Fayad L,Piha-Paul S,Nadella MV,Mohseni M,Lawson D,Reimer C,Blakey DC,Xiao X,Hsu J,Revenko A

更新日期：2015-11-18 00:00:00

abstract：:Acquired ESR1 mutations are a major mechanism of resistance to aromatase inhibitors (AIs). We developed ultra high-sensitivity multiplex digital polymerase chain reaction assays for ESR1 mutations in circulating tumor DNA (ctDNA) and investigated the clinical relevance and origin of ESR1 mutations in 171 women with ad...

journal_title：Science translational medicine

authors： Schiavon G,Hrebien S,Garcia-Murillas I,Cutts RJ,Pearson A,Tarazona N,Fenwick K,Kozarewa I,Lopez-Knowles E,Ribas R,Nerurkar A,Osin P,Chandarlapaty S,Martin LA,Dowsett M,Smith IE,Turner NC

更新日期：2015-11-11 00:00:00

abstract：:Improved understanding of the role of inflammation in tendon disease is required to facilitate therapeutic target discovery. We studied supraspinatus tendons from patients experiencing pain before and after surgical subacromial decompression treatment. Tendons were classified as having early, intermediate, or advanced...

journal_title：Science translational medicine

authors： Dakin SG,Martinez FO,Yapp C,Wells G,Oppermann U,Dean BJ,Smith RD,Wheway K,Watkins B,Roche L,Carr AJ

更新日期：2015-10-28 00:00:00

abstract：:Promising therapies for cartilage repair are translated through large animal models toward human application. To guide this work, regulatory agencies publish recommendations ("guidance documents") to direct pivotal large animal studies. These are meant to aid in study design, outline metrics for judging efficacy, and ...

journal_title：Science translational medicine

authors： Pfeifer CG,Fisher MB,Carey JL,Mauck RL

更新日期：2015-10-21 00:00:00

abstract：:DEL-1 (developmental endothelial locus-1) is an endothelial cell-secreted protein that regulates LFA-1 (lymphocyte function-associated antigen-1) integrin-dependent leukocyte recruitment and inflammation in various tissues. We identified a novel regulatory mechanism of DEL-1 in osteoclast biology. Specifically, we sho...

journal_title：Science translational medicine

authors： Shin J,Maekawa T,Abe T,Hajishengallis E,Hosur K,Pyaram K,Mitroulis I,Chavakis T,Hajishengallis G

更新日期：2015-09-30 00:00:00

abstract：:A congenital or iatrogenic tissue defect often requires closure by open surgery or metallic components that can erode tissue. Biodegradable, hydrophobic light-activated adhesives represent an attractive alternative to sutures, but lack a specifically designed minimally invasive delivery tool, which limits their clinic...

journal_title：Science translational medicine

authors： Roche ET,Fabozzo A,Lee Y,Polygerinos P,Friehs I,Schuster L,Whyte W,Casar Berazaluce AM,Bueno A,Lang N,Pereira MJ,Feins E,Wasserman S,O'Cearbhaill ED,Vasilyev NV,Mooney DJ,Karp JM,Del Nido PJ,Walsh CJ

更新日期：2015-09-23 00:00:00

abstract：:The four dengue virus serotypes (DENV1 to DENV4) are mosquito-borne flaviviruses that cause up to ~100 million cases of dengue annually worldwide. Severe disease is thought to result from immunopathogenic processes involving serotype cross-reactive antibodies and T cells that together induce vasoactive cytokines, caus...

journal_title：Science translational medicine

authors： Beatty PR,Puerta-Guardo H,Killingbeck SS,Glasner DR,Hopkins K,Harris E

更新日期：2015-09-09 00:00:00

abstract：:Common variable immune deficiency (CVID) is the most common symptomatic primary immune deficiency, affecting ~1 in 25,000 persons. These patients suffer from impaired antibody responses, autoimmunity, and susceptibility to lymphoid cancers. To explore the cellular basis for these clinical phenotypes, we conducted high...

journal_title：Science translational medicine

authors： Roskin KM,Simchoni N,Liu Y,Lee JY,Seo K,Hoh RA,Pham T,Park JH,Furman D,Dekker CL,Davis MM,James JA,Nadeau KC,Cunningham-Rundles C,Boyd SD

更新日期：2015-08-26 00:00:00

abstract：:Obesity promotes breast cancer by enhancing the stiffness of breast adipose tissue through changes in the extracellular matrix (Seo et al., this issue). ...

journal_title：Science translational medicine

authors： Arendt LM,Kuperwasser C

更新日期：2015-08-19 00:00:00

abstract：:Immunological and inflammatory processes downstream of dystrophin deficiency as well as metabolic abnormalities, defective autophagy, and loss of regenerative capacity all contribute to muscle pathology in Duchenne muscular dystrophy (DMD). These downstream cascades offer potential avenues for pharmacological interven...

journal_title：Science translational medicine

authors： Rosenberg AS,Puig M,Nagaraju K,Hoffman EP,Villalta SA,Rao VA,Wakefield LM,Woodcock J

更新日期：2015-08-05 00:00:00

abstract：:Resveratrol is widely promoted as a potential cancer chemopreventive agent, but a lack of information on the optimal dose prohibits rationally designed trials to assess efficacy. To challenge the assumption that "more is better," we compared the pharmacokinetics and activity of a dietary dose with an intake 200 times ...

journal_title：Science translational medicine

authors： Cai H,Scott E,Kholghi A,Andreadi C,Rufini A,Karmokar A,Britton RG,Horner-Glister E,Greaves P,Jawad D,James M,Howells L,Ognibene T,Malfatti M,Goldring C,Kitteringham N,Walsh J,Viskaduraki M,West K,Miller A,Hemingwa

更新日期：2015-07-29 00:00:00

abstract：:Much of our knowledge of the mechanisms underlying plasticity in the visual cortex in response to visual impairment, vision restoration, and environmental interactions comes from animal studies. We evaluated human brain plasticity in a group of patients with Leber's congenital amaurosis (LCA), who regained vision thro...

journal_title：Science translational medicine

authors： Ashtari M,Zhang H,Cook PA,Cyckowski LL,Shindler KS,Marshall KA,Aravand P,Vossough A,Gee JC,Maguire AM,Baker CI,Bennett J

更新日期：2015-07-15 00:00:00

abstract：:Genetic hearing loss accounts for up to 50% of prelingual deafness worldwide, yet there are no biologic treatments currently available. To investigate gene therapy as a potential biologic strategy for restoration of auditory function in patients with genetic hearing loss, we tested a gene augmentation approach in mous...

journal_title：Science translational medicine

authors： Askew C,Rochat C,Pan B,Asai Y,Ahmed H,Child E,Schneider BL,Aebischer P,Holt JR

更新日期：2015-07-08 00:00:00

abstract：:Rapid advances in the forward engineering of genetic circuitry in living cells has positioned synthetic biology as a potential means to solve numerous biomedical problems, including disease diagnosis and therapy. One challenge in exploiting synthetic biology for translational applications is to engineer microbes that ...

journal_title：Science translational medicine

authors： Danino T,Prindle A,Kwong GA,Skalak M,Li H,Allen K,Hasty J,Bhatia SN

更新日期：2015-05-27 00:00:00

abstract：:Myofibroblast-derived αvβ1 integrin has emerged as a critical mediator of transforming growth factor-β activation in experimental models of tissue fibrosis (Reed et al., this issue). ...

journal_title：Science translational medicine

authors： Dietz HC

更新日期：2015-05-20 00:00:00

abstract：:Beginning with the 18th-century physician-scientist William Heberden, the elder, Science Translational Medicine introduces a new article series about historical figures whose transformational contributions to science, medicine, and society remain relevant today. ...

journal_title：Science translational medicine

authors： Edelman ER,LaMarco K

更新日期：2015-05-13 00:00:00

abstract：:An analysis of four regions in four countries suggests that the best way to mitigate disruption of the pharmaceutical industry is not to ignore or stem it but to sponsor initiatives that keep scientists engaged. ...

journal_title：Science translational medicine

authors： Munos B

更新日期：2015-05-06 00:00:00

abstract：:Trauma-induced critical illness is driven by acute inflammation, and elevated systemic interleukin-6 (IL-6) after trauma is a biomarker of adverse outcomes. We constructed a multicompartment, ordinary differential equation model that represents a virtual trauma patient. Individual-specific variants of this model repro...

journal_title：Science translational medicine

authors： Brown D,Namas RA,Almahmoud K,Zaaqoq A,Sarkar J,Barclay DA,Yin J,Ghuma A,Abboud A,Constantine G,Nieman G,Zamora R,Chang SC,Billiar TR,Vodovotz Y

更新日期：2015-04-29 00:00:00