Achieving a nationwide learning health system.

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：:Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease caused by loss of activity of α-l-iduronidase and attendant accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate. Current treatments are suboptimal and do not address residual disease including corneal clouding, skeletal deformi...

journal_title：Science translational medicine

authors： Dierenfeld AD,McEntee MF,Vogler CA,Vite CH,Chen AH,Passage M,Le S,Shah S,Jens JK,Snella EM,Kline KL,Parkes JD,Ware WA,Moran LE,Fales-Williams AJ,Wengert JA,Whitley RD,Betts DM,Boal AM,Riedesel EA,Gross W,Ellinwo

更新日期：2010-12-01 00:00:00

abstract：:Paving the way for clinical trials, a new study shows that a glutamate receptor antagonist reduces repetitive behavior and social deficits in a mouse model of autism spectrum disorder. ...

journal_title：Science translational medicine

authors： Gomez-Mancilla B

更新日期：2012-04-25 00:00:00

abstract：:Lung cancer is more deadly than colon, breast, and prostate cancers combined, and treatment improvements have failed to improve prognosis significantly. Here, we identify a critical mediator of lung cancer progression, Rac1b, a tumor-associated protein with cell-transforming properties that are linked to the matrix me...

journal_title：Science translational medicine

authors： Stallings-Mann ML,Waldmann J,Zhang Y,Miller E,Gauthier ML,Visscher DW,Downey GP,Radisky ES,Fields AP,Radisky DC

更新日期：2012-07-11 00:00:00

abstract：:Local delivery of anticancer agents has the potential to maximize treatment efficacy and minimize the acute and long-term systemic toxicities. Here, we used unsupervised systematic evolution of ligands by exponential enrichment to identify four RNA aptamers that specifically recognized mouse and human myeloid cells in...

journal_title：Science translational medicine

authors： De La Fuente A,Zilio S,Caroli J,Van Simaeys D,Mazza EMC,Ince TA,Bronte V,Bicciato S,Weed DT,Serafini P

更新日期：2020-06-17 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

abstract：:Immune thrombocytopenia (ITP) is an autoimmune disorder of childhood characterized by immune-mediated destruction of platelets. The mechanisms underlying the pathogenesis of ITP and the therapeutic efficacy of intravenous immunoglobulins (IVIG) in this disorder remain unclear. We show that monocytes from patients with...

journal_title：Science translational medicine

authors： Sehgal K,Guo X,Koduru S,Shah A,Lin A,Yan X,Dhodapkar KM

更新日期：2013-07-10 00:00:00

abstract：:The role of neuronal Toll-like receptor 4 (TLR4) in nerve injury is being pursued actively. However, the endogenous activation of neuronal TLR4 during neuroinflammation, in absence of the participation of glial TLR4, remains elusive. Here, we identified lysozyme as an endogenous activator of neuronal TLR4 signaling du...

journal_title：Science translational medicine

authors： Yadav S,Surolia A

更新日期：2019-08-07 00:00:00

abstract：:Regular physical activity and especially aerobic exercise are associated with reduced risk of disease and enhanced longevity, but the molecular mechanisms of these health benefits remain obscure. A comprehensive metabolomic approach was used to characterize the changes in blood levels of >200 metabolites upon vigorous...

journal_title：Science translational medicine

authors： Burke MF,Dunbar RL,Rader DJ

更新日期：2010-07-21 00:00:00

abstract：:The blood-borne lipid lysophosphatidic acid and its receptor contribute to fetal-onset hydrocephalus, a severe neurological disorder of newborns. ...

journal_title：Science translational medicine

authors： McAllister JP

更新日期：2011-09-07 00:00:00

abstract：:Global investments in health information technology (HIT) in the form of electronic health record systems represent important new strategies to improve the quality and efficiency of health care. These potential benefits of HIT will not be achieved without direct attention to the use of health care information for clin...

journal_title：Science translational medicine

authors： Nadler JJ,Downing GJ

更新日期：2010-02-10 00:00:00

abstract：:Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin and mucous membrane fragility disorder complicated by early-onset, highly malignant cutaneous squamous cell carcinomas (SCCs). The molecular etiology of RDEB SCC, which arises at sites of sustained tissue damage, is unknown. We performed detail...

journal_title：Science translational medicine

authors： Cho RJ,Alexandrov LB,den Breems NY,Atanasova VS,Farshchian M,Purdom E,Nguyen TN,Coarfa C,Rajapakshe K,Prisco M,Sahu J,Tassone P,Greenawalt EJ,Collisson EA,Wu W,Yao H,Su X,Guttmann-Gruber C,Hofbauer JP,Hashmi R,Fue

更新日期：2018-08-22 00:00:00

abstract：:Patient-derived xenografts (PDXs) and PDX-derived cells (PDCs) are useful in preclinical research. We performed a drug screening assay using PDCs and identified proteasome inhibitors as promising drugs for cholangiocarcinoma (CCA) treatment. Furthermore, we determined that phosphate and tensin homology deleted on chro...

journal_title：Science translational medicine

authors： Jiang TY,Pan YF,Wan ZH,Lin YK,Zhu B,Yuan ZG,Ma YH,Shi YY,Zeng TM,Dong LW,Tan YX,Wang HY

更新日期：2020-09-23 00:00:00

abstract：:Therapeutic intravesical instillation of bacillus Calmette-Guérin (BCG) is effective at triggering inflammation and eliciting successful tumor immunity in patients with non-muscle invasive bladder cancer, with 50 to 70% clinical response. Therapeutic success relies on repeated instillations of live BCG administered as...

journal_title：Science translational medicine

authors： Biot C,Rentsch CA,Gsponer JR,Birkhäuser FD,Jusforgues-Saklani H,Lemaître F,Auriau C,Bachmann A,Bousso P,Demangel C,Peduto L,Thalmann GN,Albert ML

更新日期：2012-06-06 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：:The inability to produce perfusable microvasculature networks capable of supporting tissue survival and of withstanding physiological pressures without leakage is a fundamental problem facing the field of tissue engineering. Microvasculature is critically important for production of bioengineered lung (BEL), which req...

journal_title：Science translational medicine

authors： Nichols JE,La Francesca S,Niles JA,Vega SP,Argueta LB,Frank L,Christiani DC,Pyles RB,Himes BE,Zhang R,Li S,Sakamoto J,Rhudy J,Hendricks G,Begarani F,Liu X,Patrikeev I,Pal R,Usheva E,Vargas G,Miller A,Woodson L,

更新日期：2018-08-01 00:00:00

abstract：:Precise form-fitting of prosthetic sockets is important for the comfort and well-being of persons with limb amputations. Capabilities for continuous monitoring of pressure and temperature at the skin-prosthesis interface can be valuable in the fitting process and in monitoring for the development of dangerous regions ...

journal_title：Science translational medicine

authors： Kwak JW,Han M,Xie Z,Chung HU,Lee JY,Avila R,Yohay J,Chen X,Liang C,Patel M,Jung I,Kim J,Namkoong M,Kwon K,Guo X,Ogle C,Grande D,Ryu D,Kim DH,Madhvapathy S,Liu C,Yang DS,Park Y,Caldwell R,Banks A,Xu S,H

更新日期：2020-12-16 00:00:00

abstract：:Measles virus is a highly infectious morbillivirus responsible for major morbidity and mortality in unvaccinated humans. The related, zoonotic canine distemper virus (CDV) induces morbillivirus disease in ferrets with 100% lethality. We report an orally available, shelf-stable pan-morbillivirus inhibitor that targets ...

journal_title：Science translational medicine

authors： Krumm SA,Yan D,Hovingh ES,Evers TJ,Enkirch T,Reddy GP,Sun A,Saindane MT,Arrendale RF,Painter G,Liotta DC,Natchus MG,von Messling V,Plemper RK

更新日期：2014-04-16 00:00:00

abstract：:Cerebral cavernous malformation (CCM) is a genetic, cerebrovascular disease. Familial CCM is caused by genetic mutations in KRIT1, CCM2, or PDCD10 Disease onset is earlier and more severe in individuals with PDCD10 mutations. Recent studies have shown that lesions arise from excess mitogen-activated protein kinase kin...

journal_title：Science translational medicine

authors： Tang AT,Sullivan KR,Hong CC,Goddard LM,Mahadevan A,Ren A,Pardo H,Peiper A,Griffin E,Tanes C,Mattei LM,Yang J,Li L,Mericko-Ishizuka P,Shen L,Hobson N,Girard R,Lightle R,Moore T,Shenkar R,Polster SP,Roedel CJ,Li

更新日期：2019-11-27 00:00:00

abstract：:Because of the well-established therapeutic benefit of boosting antitumor responses through blockade of the T cell inhibitory receptor PD-1, it has been proposed that PD-1 blockade could also be useful in infectious disease settings, including Mycobacterium tuberculosis (Mtb) infection. However, in preclinical models,...

journal_title：Science translational medicine

authors： Barber DL,Sakai S,Kudchadkar RR,Fling SP,Day TA,Vergara JA,Ashkin D,Cheng JH,Lundgren LM,Raabe VN,Kraft CS,Nieva JJ,Cheever MA,Nghiem PT,Sharon E

更新日期：2019-01-16 00:00:00

abstract：:Retention and use, without explicit parental permission, of residual dried blood samples from newborn screening has generated public controversy over concerns about violations of family privacy rights and loss of parental autonomy. The public debate about this issue has included little discussion a...

journal_title：Science translational medicine

authors： Lewis MH,Scheurer ME,Green RC,McGuire AL

更新日期：2012-11-07 00:00:00

abstract：:Fibroblasts are primary cellular protagonists of wound healing. They also exhibit circadian timekeeping, which imparts an approximately 24-hour rhythm to their biological function. We interrogated the functional consequences of the cell-autonomous clockwork in fibroblasts using a proteome-wide screen for rhythmically ...

journal_title：Science translational medicine

authors： Hoyle NP,Seinkmane E,Putker M,Feeney KA,Krogager TP,Chesham JE,Bray LK,Thomas JM,Dunn K,Blaikley J,O'Neill JS

更新日期：2017-11-08 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：:The development of new approaches to cholera control relies on an accurate understanding of cholera epidemiology. However, most information on cholera incidence lacks laboratory confirmation and instead relies on surveillance systems reporting medically attended acute watery diarrhea. If recent infections could be ide...

journal_title：Science translational medicine

authors： Azman AS,Lessler J,Luquero FJ,Bhuiyan TR,Khan AI,Chowdhury F,Kabir A,Gurwith M,Weil AA,Harris JB,Calderwood SB,Ryan ET,Qadri F,Leung DT

更新日期：2019-02-20 00:00:00

abstract：:Buprenorphine, a synthetic opioid that acts at both μ and κ opioid receptors, can decrease cocaine use in individuals with opioid addiction. However, the potent agonist action of buprenorphine at μ opioid receptors raises its potential for creating opioid dependence in non-opioid-dependent cocaine abusers. Here, we te...

journal_title：Science translational medicine

authors： Wee S,Vendruscolo LF,Misra KK,Schlosburg JE,Koob GF

更新日期：2012-08-08 00:00:00

abstract：:The epidermal growth factor receptor (EGFR) plays an important role in tissue homeostasis and tumor progression. However, cancer patients treated with EGFR inhibitors (EGFRIs) frequently develop acneiform skin toxicities, which are a strong predictor of a patient's treatment response. We show that the early inflammato...

journal_title：Science translational medicine

authors： Lichtenberger BM,Gerber PA,Holcmann M,Buhren BA,Amberg N,Smolle V,Schrumpf H,Boelke E,Ansari P,Mackenzie C,Wollenberg A,Kislat A,Fischer JW,Röck K,Harder J,Schröder JM,Homey B,Sibilia M

更新日期：2013-08-21 00:00:00

abstract：:Hepatitis B virus (HBV)-induced hepatitis and carcinogen-induced hepatocellular carcinoma (HCC) are associated with serum androgen concentration. However, how androgen or the androgen receptor (AR) contributes to HBV-induced hepatocarcinogenesis remains unclear. We found that hepatic AR promotes HBV-induced hepatocarc...

journal_title：Science translational medicine

authors： Wu MH,Ma WL,Hsu CL,Chen YL,Ou JH,Ryan CK,Hung YC,Yeh S,Chang C

更新日期：2010-05-19 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：:Cancer research integrated a physical sciences perspective through team science, which fostered communication, trust, joint publication, and open access to data. ...

journal_title：Science translational medicine

authors： Kuhn NZ,Nagahara LA

更新日期：2013-05-01 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