Comment on "Power of rare diseases: found in translation".

abstract：:Patients undergoing surgical resection of primary breast tumors confront a risk for metastatic recurrence that peaks sharply 12 to 18 months after surgery. The cause of early metastatic relapse in breast cancer has long been debated, with many ascribing these relapses to the natural progression of the disease. Others ...

journal_title：Science translational medicine

authors： Krall JA,Reinhardt F,Mercury OA,Pattabiraman DR,Brooks MW,Dougan M,Lambert AW,Bierie B,Ploegh HL,Dougan SK,Weinberg RA

更新日期：2018-04-11 00:00:00

abstract：:Spinal cord injury (SCI) is typically complicated by progressive hemorrhagic necrosis, an autodestructive process of secondary injury characterized by progressive enlargement of a hemorrhagic contusion during the first several hours after trauma. We assessed the role of Abcc8, which encodes sulfonylurea receptor 1 (SU...

journal_title：Science translational medicine

authors： Simard JM,Woo SK,Norenberg MD,Tosun C,Chen Z,Ivanova S,Tsymbalyuk O,Bryan J,Landsman D,Gerzanich V

更新日期：2010-04-21 00:00:00

abstract：:MicroRNAs (miRNAs) regulate many aspects of human biology. They target mRNAs for translational repression or degradation through base pairing with 3' untranslated regions, primarily via seed sequences (nucleotides 2 to 8 in the mature miRNA sequence). A number of individual miRNAs and miRNA families share seed sequenc...

journal_title：Science translational medicine

authors： Rottiers V,Obad S,Petri A,McGarrah R,Lindholm MW,Black JC,Sinha S,Goody RJ,Lawrence MS,deLemos AS,Hansen HF,Whittaker S,Henry S,Brookes R,Najafi-Shoushtari SH,Chung RT,Whetstine JR,Gerszten RE,Kauppinen S,Näär AM

更新日期：2013-11-20 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：:Detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections to date has relied heavily on reverse transcription polymerase chain reaction testing. However, limited test availability, high false-negative rates, and the existence of asymptomatic or subclinical infections have resulted in an unde...

journal_title：Science translational medicine

authors： Silverman JD,Hupert N,Washburne AD

更新日期：2020-07-29 00:00:00

abstract：:Axonal dystrophy, indicative of perturbed axonal transport, occurs early during Alzheimer's disease (AD) pathogenesis. Little is known about the mechanisms underlying this initial sign of the pathology. This study proves that Golgi-localized γ-ear-containing ARF binding protein 3 (GGA3) loss of function, due to Gga3 g...

journal_title：Science translational medicine

authors： Lomoio S,Willen R,Kim W,Ho KZ,Robinson EK,Prokopenko D,Kennedy ME,Tanzi RE,Tesco G

更新日期：2020-11-18 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：:Macrophages in the healthy intestine are highly specialized and usually respond to the gut microbiota without provoking an inflammatory response. A breakdown in this tolerance leads to inflammatory bowel disease (IBD), but the mechanisms by which intestinal macrophages normally become conditioned to promote microbial ...

journal_title：Science translational medicine

authors： Scott NA,Andrusaite A,Andersen P,Lawson M,Alcon-Giner C,Leclaire C,Caim S,Le Gall G,Shaw T,Connolly JPR,Roe AJ,Wessel H,Bravo-Blas A,Thomson CA,Kästele V,Wang P,Peterson DA,Bancroft A,Li X,Grencis R,Mowat AM,Hal

更新日期：2018-10-24 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：: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：: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：:Pathogenic immunoglobulin G (IgG) autoantibodies characterize some human autoimmune diseases; their high concentration and long half-life are dependent on recycling by the neonatal Fc receptor (FcRn). Inhibition of FcRn is an attractive new treatment concept for IgG-mediated autoimmune diseases. Rozanolixizumab (UCB76...

journal_title：Science translational medicine

authors： Kiessling P,Lledo-Garcia R,Watanabe S,Langdon G,Tran D,Bari M,Christodoulou L,Jones E,Price G,Smith B,Brennan F,White I,Jolles S

更新日期：2017-11-01 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：: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：: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：: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：: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：: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：: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：: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：: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：: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：:Elevated serum levels of both total and allergen-specific immunoglobulin E (IgE) correlate with atopic diseases such as allergic rhinitis and allergic asthma. Neutralization of IgE by anti-IgE antibodies can effectively treat allergic asthma. Preclinical studies indicate that targeting membrane IgE-positive cells with...

journal_title：Science translational medicine

authors： Gauvreau GM,Harris JM,Boulet LP,Scheerens H,Fitzgerald JM,Putnam WS,Cockcroft DW,Davis BE,Leigh R,Zheng Y,Dahlén B,Wang Y,Maciuca R,Mayers I,Liao XC,Wu LC,Matthews JG,O'Byrne PM

更新日期：2014-07-02 00:00:00

abstract：:Long-acting GSK1265744 (GSK744 LA) is a strand transfer inhibitor of the HIV/SIV (simian immunodeficiency virus) integrase and was shown to be an effective preexposure prophylaxis (PrEP) agent in a low-dose intrarectal SHIV (simian-human immunodeficiency virus) rhesus macaque challenge model. We examined the pharmacok...

journal_title：Science translational medicine

authors： Andrews CD,Yueh YL,Spreen WR,St Bernard L,Boente-Carrera M,Rodriguez K,Gettie A,Russell-Lodrigue K,Blanchard J,Ford S,Mohri H,Cheng-Mayer C,Hong Z,Ho DD,Markowitz M

更新日期：2015-01-14 00:00:00

abstract：:Aggregation of β-amyloid (Aβ) in the brain begins to occur years before the clinical onset of Alzheimer's disease (AD). Before Aβ aggregation, concentrations of extracellular soluble Aβ in the interstitial fluid (ISF) space of the brain, which are regulated by neuronal activity and the sleep-wake cycle, correlate with...

journal_title：Science translational medicine

authors： Roh JH,Huang Y,Bero AW,Kasten T,Stewart FR,Bateman RJ,Holtzman DM

更新日期：2012-09-05 00:00:00

abstract：:Physiological data are routinely recorded in intensive care, but their use for rapid assessment of illness severity or long-term morbidity prediction has been limited. We developed a physiological assessment score for preterm newborns, akin to an electronic Apgar score, based on standard signals recorded noninvasively...

journal_title：Science translational medicine

authors： Saria S,Rajani AK,Gould J,Koller D,Penn AA

更新日期：2010-09-08 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：:About 170 million people worldwide are infected with hepatitis C virus (HCV). The current standard therapy leads to sustained viral elimination in only approximately 50% of the treated patients. Telaprevir, an HCV protease inhibitor, has substantial antiviral activity in patients with chronic HCV infection. However, i...

journal_title：Science translational medicine

authors： Rong L,Dahari H,Ribeiro RM,Perelson AS

更新日期：2010-05-05 00:00:00

abstract：:The efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) is limited by acute and chronic graft-versus-host disease (GVHD). The impact of obesity on allo-HSCT outcomes is poorly understood. Here, we report that obesity had a negative and selective impact on acute gut GVHD after allo-HSCT in mice w...

journal_title：Science translational medicine

authors： Khuat LT,Le CT,Pai CS,Shields-Cutler RR,Holtan SG,Rashidi A,Parker SL,Knights D,Luna JI,Dunai C,Wang Z,Sturgill IR,Stoffel KM,Merleev AA,More SK,Maverakis E,Raybould HE,Chen M,Canter RJ,Monjazeb AM,Dave M,Ferrar

更新日期：2020-11-25 00:00:00

abstract：:In February 2010, the U.S. National Institutes of Health (NIH) sponsored a national Clinical and Translational Science Awards forum titled "Promoting Efficient and Effective Collaborations among Academia, Government and Industry." This forum brought together a broad set of stakeholders who were charged with developing...

journal_title：Science translational medicine

authors： Portilla LM,Evans G,Eng B,Fadem TJ

更新日期：2010-12-22 00:00:00