Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder.

abstract：:Venetoclax is a specific B cell lymphoma 2 (BCL-2) inhibitor with promising activity against acute myeloid leukemia (AML), but its clinical efficacy as a single agent or in combination with hypomethylating agents (HMAs), such as azacitidine, is hampered by intrinsic and acquired resistance. Here, we performed a genome...

journal_title：Science translational medicine

authors： Sharon D,Cathelin S,Mirali S,Di Trani JM,Yanofsky DJ,Keon KA,Rubinstein JL,Schimmer AD,Ketela T,Chan SM

更新日期：2019-10-30 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：:Metastasis is the major cause of cancer mortality. A more thorough understanding of the mechanisms driving this complex multistep process will aid in the identification and characterization of therapeutically targetable genetic drivers of disease progression. We demonstrate that KLF6-SV1, an oncogenic splice variant o...

journal_title：Science translational medicine

authors： Hatami R,Sieuwerts AM,Izadmehr S,Yao Z,Qiao RF,Papa L,Look MP,Smid M,Ohlssen J,Levine AC,Germain D,Burstein D,Kirschenbaum A,DiFeo A,Foekens JA,Narla G

更新日期：2013-01-23 00:00:00

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：: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：:Medical devices and implants made of synthetic materials can induce an immune-mediated process when implanted in the body called the foreign body response, which results in formation of a fibrous capsule around the implant. To explore the immune and stromal connections underpinning the foreign body response, we analyz...

journal_title：Science translational medicine

authors： Chung L,Maestas DR Jr,Lebid A,Mageau A,Rosson GD,Wu X,Wolf MT,Tam AJ,Vanderzee I,Wang X,Andorko JI,Zhang H,Narain R,Sadtler K,Fan H,Čiháková D,Le Saux CJ,Housseau F,Pardoll DM,Elisseeff JH

更新日期：2020-04-15 00:00:00

abstract：:Research standards deviate in genetic versus nongenetic epidemiology. Besides some immutable differences, such as the correlation pattern between variables, these divergent research standards can converge considerably. Current research designs that dissociate genetic and nongenetic measurements are reaching their limi...

journal_title：Science translational medicine

authors： Ioannidis JP,Loy EY,Poulton R,Chia KS

更新日期：2009-11-18 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：:Information provided to patients is thought to influence placebo and drug effects. In a prospective, within-subjects, repeated-measures study of 66 subjects with episodic migraine, we investigated how variations in medication labeling modified placebo and drug effects. An initial attack with no treatment served as a c...

journal_title：Science translational medicine

authors： Kam-Hansen S,Jakubowski M,Kelley JM,Kirsch I,Hoaglin DC,Kaptchuk TJ,Burstein R

更新日期：2014-01-08 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：:Aspirin use reduces the risk of colorectal neoplasia, at least in part, through inhibition of prostaglandin-endoperoxide synthase 2 (PTGS2, cyclooxygenase 2)-related pathways. Hydroxyprostaglandin dehydrogenase 15-(nicotinamide adenine dinucleotide) (15-PGDH, HPGD) is down-regulated in colorectal cancers and functions...

journal_title：Science translational medicine

authors： Fink SP,Yamauchi M,Nishihara R,Jung S,Kuchiba A,Wu K,Cho E,Giovannucci E,Fuchs CS,Ogino S,Markowitz SD,Chan AT

更新日期：2014-04-23 00:00:00

abstract：:The recent Perspective entitled "Power of rare diseases: Found in translation" undervalues the contributions of academic research in first-in-human studies. ...

journal_title：Science translational medicine

authors： van der Meer JW,Simon A,Dinarello CA

更新日期：2014-01-15 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：:Amyotrophic lateral sclerosis (ALS), a fatal disease causing progressive loss of motor neurons, still has no effective treatment. We developed a phenotypic screen to repurpose existing drugs using ALS motor neuron survival as readout. Motor neurons were generated from induced pluripotent stem cells (iPSCs) derived fro...

journal_title：Science translational medicine

authors： Imamura K,Izumi Y,Watanabe A,Tsukita K,Woltjen K,Yamamoto T,Hotta A,Kondo T,Kitaoka S,Ohta A,Tanaka A,Watanabe D,Morita M,Takuma H,Tamaoka A,Kunath T,Wray S,Furuya H,Era T,Makioka K,Okamoto K,Fujisawa T,Nishit

更新日期：2017-05-24 00:00:00

abstract：:Bactericidal antibiotics with diverse mechanisms of action induce generation of mitochondrial reactive oxygen species in mammalian cells (Kalghatgi et al., this issue). ...

journal_title：Science translational medicine

authors： Chandel NS,Budinger GR

更新日期：2013-07-03 00:00:00

abstract：:Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions/insertions, L858R, and L861Q) predict favorable responses to EGFR tyrosine kinase inhibitors (TKIs) in advanced non-small cell lung cancer (NSCLC). However, EGFR exon 20 insertion mutations (~10% of all EGFR mutations) are generally assoc...

journal_title：Science translational medicine

authors： Yasuda H,Park E,Yun CH,Sng NJ,Lucena-Araujo AR,Yeo WL,Huberman MS,Cohen DW,Nakayama S,Ishioka K,Yamaguchi N,Hanna M,Oxnard GR,Lathan CS,Moran T,Sequist LV,Chaft JE,Riely GJ,Arcila ME,Soo RA,Meyerson M,Eck MJ,K

更新日期：2013-12-18 00:00:00

abstract：:About 25% of high-grade cervical intraepithelial neoplasias (CIN2/3) caused by human papillomavirus serotype 16 (HPV16) undergo complete spontaneous regression. However, to date, therapeutic vaccination strategies for HPV disease have yielded limited success when measured by their ability to induce robust peripheral b...

journal_title：Science translational medicine

authors： Maldonado L,Teague JE,Morrow MP,Jotova I,Wu TC,Wang C,Desmarais C,Boyer JD,Tycko B,Robins HS,Clark RA,Trimble CL

更新日期：2014-01-29 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：:Clinical management of human cancer is dependent on the accurate monitoring of residual and recurrent tumors. The evaluation of patient-specific translocations in leukemias and lymphomas has revolutionized diagnostics for these diseases. We have developed a method, called personalized analysis of rearranged ends (PARE...

journal_title：Science translational medicine

authors： Leary RJ,Kinde I,Diehl F,Schmidt K,Clouser C,Duncan C,Antipova A,Lee C,McKernan K,De La Vega FM,Kinzler KW,Vogelstein B,Diaz LA Jr,Velculescu VE

更新日期：2010-02-24 00:00:00

abstract：:Glycogen synthase kinase 3 (GSK3), a key regulatory kinase in the wingless-type MMTV integration site family (WNT) pathway, is a therapeutic target of interest in many diseases. Although dual GSK3α/β inhibitors have entered clinical trials, none has successfully translated to clinical application. Mechanism-based toxi...

journal_title：Science translational medicine

authors： Wagner FF,Benajiba L,Campbell AJ,Weïwer M,Sacher JR,Gale JP,Ross L,Puissant A,Alexe G,Conway A,Back M,Pikman Y,Galinsky I,DeAngelo DJ,Stone RM,Kaya T,Shi X,Robers MB,Machleidt T,Wilkinson J,Hermine O,Kung A,St

更新日期：2018-03-07 00:00:00

abstract：:About one-third of people in the developed world will undergo cataract surgery in their lifetime. Although marked improvements in surgical technique have occurred since the development of the current approach to lens replacement in the late 1960s and early 1970s, some critical steps of the procedure can still only be ...

journal_title：Science translational medicine

authors： Palanker DV,Blumenkranz MS,Andersen D,Wiltberger M,Marcellino G,Gooding P,Angeley D,Schuele G,Woodley B,Simoneau M,Friedman NJ,Seibel B,Batlle J,Feliz R,Talamo J,Culbertson W

更新日期：2010-11-17 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：:Platelets are crucial for normal hemostasis; however, their hyperactivation also contributes to many potentially lethal pathologies including myocardial infarction, stroke, and cancer. We hypothesized that modified platelets lacking their aggregation and activation capacity could act as reversible inhibitors of platel...

journal_title：Science translational medicine

authors： Papa AL,Jiang A,Korin N,Chen MB,Langan ET,Waterhouse A,Nash E,Caroff J,Graveline A,Vernet A,Mammoto A,Mammoto T,Jain A,Kamm RD,Gounis MJ,Ingber DE

更新日期：2019-02-13 00:00:00

abstract：:Public health emergencies, such as an Ebola disease outbreak, provide a complex and challenging environment for the evaluation of candidate vaccines. Here, we outline the need for flexible and responsive vaccine trial designs to be used in public health emergencies, and we summarize recommendations for their use in th...

journal_title：Science translational medicine

authors： Dean NE,Gsell PS,Brookmeyer R,De Gruttola V,Donnelly CA,Halloran ME,Jasseh M,Nason M,Riveros X,Watson CH,Henao-Restrepo AM,Longini IM

更新日期：2019-07-03 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：:Atherosclerosis is the cause of morbiditiy for 70% of patients with type 2 diabetes. In both of these diseases, a protein complex known as the inflammasome is stimulated to activate interleukin-1β (IL-1β) and IL-18, which are pathogenic inflammatory cytokines. Triggers for the inflammasome are obesity-related factors,...

journal_title：Science translational medicine

authors： Masters SL,Latz E,O'Neill LA

更新日期：2011-05-04 00:00:00

abstract：:Advances in understanding the genetics and underlying pathology of the catastrophic childhood epilepsies are pointing toward treatments. ...

journal_title：Science translational medicine

authors： Katsnelson A,Buzsáki G,Swann JW

更新日期：2014-11-12 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：:Each year, more than a half million people in the United States alone die from sepsis, a dire multisystem disease with highly inadequate treatment options. In a recent issue of Science, Puneet and colleagues provide compelling evidence that inhibiting sphingosine kinase 1--an enzyme that resides in immune cells and is...

journal_title：Science translational medicine

authors： O'Neill LA

更新日期：2010-06-16 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the ANXA11 gene in 13 individuals. The p.D40G mutation was absent from 70,000 control whole-exome sequences. This mutation segregated wi...

journal_title：Science translational medicine

authors： Smith BN,Topp SD,Fallini C,Shibata H,Chen HJ,Troakes C,King A,Ticozzi N,Kenna KP,Soragia-Gkazi A,Miller JW,Sato A,Dias DM,Jeon M,Vance C,Wong CH,de Majo M,Kattuah W,Mitchell JC,Scotter EL,Parkin NW,Sapp PC,Nol

更新日期：2017-05-03 00:00:00