Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.

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

abstract：:Nipah virus is an emerging pathogen in the Paramyxoviridae family. Upon transmission of Nipah virus from its natural reservoir, Pteropus spp. fruit bats, to humans, it causes respiratory and neurological disease with a case-fatality rate about 70%. Human-to-human transmission has been observed during Nipah virus outbr...

journal_title：Science translational medicine

authors： Lo MK,Feldmann F,Gary JM,Jordan R,Bannister R,Cronin J,Patel NR,Klena JD,Nichol ST,Cihlar T,Zaki SR,Feldmann H,Spiropoulou CF,de Wit E

更新日期：2019-05-29 00:00:00

abstract：:Acquired resistance to tyrosine kinase inhibitors (TKIs) of epidermal growth factor receptor (EGFR) remains a clinical challenge. Especially challenging are cases in which resistance emerges through EGFR-independent mechanisms, such as through pathways that promote epithelial-to-mesenchymal transition (EMT). Through a...

journal_title：Science translational medicine

authors： Nilsson MB,Sun H,Robichaux J,Pfeifer M,McDermott U,Travers J,Diao L,Xi Y,Tong P,Shen L,Hofstad M,Kawakami M,Le X,Liu X,Fan Y,Poteete A,Hu L,Negrao MV,Tran H,Dmitrovsky E,Peng D,Gibbons DL,Wang J,Heymach JV

更新日期：2020-09-02 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：: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：:The limited predictability of phase II biomarkers for atherosclerosis outcomes in phase III studies stands in contrast to the number and varied types of biomarkers--soluble, imaging, and functional--that have been used in a diverse array of trials. Although collectively abundant, these biomarker data exist in a fragme...

journal_title：Science translational medicine

authors： Fryburg DA,Vassileva MT

更新日期：2011-03-02 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：:Osteoclasts actively remodel both the mineral and proteinaceous components of bone during normal growth and development as well as pathologic states ranging from osteoporosis to bone metastasis. The cysteine proteinase cathepsin K confers osteoclasts with potent type I collagenolytic activity; however, cathepsin K-nul...

journal_title：Science translational medicine

authors： Zhu L,Tang Y,Li XY,Keller ET,Yang J,Cho JS,Feinberg TY,Weiss SJ

更新日期：2020-02-05 00:00:00

abstract：:Fibroblast growth factor 21 (FGF21) is a distinctive member of the FGF family with potent beneficial effects on lipid, body weight, and glucose metabolism and has attracted considerable interest as a potential therapeutic for treating diabetes and obesity. As an alternative to native FGF21, we have developed a monoclo...

journal_title：Science translational medicine

authors： Foltz IN,Hu S,King C,Wu X,Yang C,Wang W,Weiszmann J,Stevens J,Chen JS,Nuanmanee N,Gupte J,Komorowski R,Sekirov L,Hager T,Arora T,Ge H,Baribault H,Wang F,Sheng J,Karow M,Wang M,Luo Y,McKeehan W,Wang Z,Vénia

更新日期：2012-11-28 00:00:00

abstract：:A major obstacle to eradicating polio is that poliovirus from endemic countries can be reintroduced to polio-free countries. Environmental surveillance (ES) can detect poliovirus from sewage or wastewaters samples, even in the absence of patients with paralysis. ES is underused, in part because its sensitivity is unkn...

journal_title：Science translational medicine

authors： Berchenko Y,Manor Y,Freedman LS,Kaliner E,Grotto I,Mendelson E,Huppert A

更新日期：2017-03-29 00:00:00

abstract：:A clinical trial evaluating HIV vaccine therapy teaches us much about optimal design (Sneller et al, this issue). ...

journal_title：Science translational medicine

authors： Michael NL

更新日期：2017-12-06 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：:Nonalcoholic fatty liver disease (NAFLD) is estimated to affect up to one-third of the general population, and new therapies are urgently required. Our laboratory previously developed a controlled-release mitochondrial protonophore (CRMP) that is functionally liver-targeted and promotes oxidation of hepatic triglyceri...

journal_title：Science translational medicine

authors： Goedeke L,Peng L,Montalvo-Romeral V,Butrico GM,Dufour S,Zhang XM,Perry RJ,Cline GW,Kievit P,Chng K,Petersen KF,Shulman GI

更新日期：2019-10-02 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：:A pilot study of a handheld fluorescence endomicroscope demonstrates both in vivo imaging and differentiation of normal from precancerous cervical tissue. ...

journal_title：Science translational medicine

authors： Evans CL

更新日期：2017-01-11 00:00:00

abstract：:Danon disease (DD) is a rare X-linked autophagic vacuolar myopathy associated with multiorgan dysfunction, including the heart, skeletal muscle, and liver. There are no specific treatments, and most male patients die from advanced heart failure during the second or third decade of life. DD is caused by mutations in th...

journal_title：Science translational medicine

authors： Manso AM,Hashem SI,Nelson BC,Gault E,Soto-Hermida A,Villarruel E,Brambatti M,Bogomolovas J,Bushway PJ,Chen C,Battiprolu P,Keravala A,Schwartz JD,Shah G,Gu Y,Dalton ND,Hammond K,Peterson K,Saftig P,Adler ED

更新日期：2020-03-18 00:00:00

abstract：:Misuse of prescription opioids, opioid addiction, and overdose underscore the urgent need for developing addiction-free effective medications for treating severe pain. Mu opioid peptide (MOP) receptor agonists provide very effective pain relief. However, severe side effects limit their use in the clinical setting. Ago...

journal_title：Science translational medicine

authors： Ding H,Kiguchi N,Yasuda D,Daga PR,Polgar WE,Lu JJ,Czoty PW,Kishioka S,Zaveri NT,Ko MC

更新日期：2018-08-29 00:00:00

abstract：:Regulatory T cells (T(regs)) manipulated ex vivo have potential as cellular therapeutics in autoimmunity and transplantation. Although it is possible to expand naturally occurring T(regs), an attractive alternative possibility, particularly suited to solid organ and bone marrow transplantation, is the stimulation of t...

journal_title：Science translational medicine

authors： Feng G,Nadig SN,Bäckdahl L,Beck S,Francis RS,Schiopu A,Whatcott A,Wood KJ,Bushell A

更新日期：2011-05-18 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：:Preexisting lymphocytic infiltration of tumors is associated with superior prognostic outcomes in a variety of cancers. Recent studies also suggest that lymphocytic responses may identify patients more likely to benefit from therapies targeting immune checkpoints, suggesting that therapeutic efficacy of immune checkpo...

journal_title：Science translational medicine

authors： Zamarin D,Holmgaard RB,Subudhi SK,Park JS,Mansour M,Palese P,Merghoub T,Wolchok JD,Allison JP

更新日期：2014-03-05 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：:Acute myeloid leukemia (AML) is a molecularly and clinically heterogeneous hematological malignancy. Although immunotherapy may be an attractive modality to exploit in patients with AML, the ability to predict the groups of patients and the types of cancer that will respond to immune targeting remains limited. This st...

journal_title：Science translational medicine

authors： Vadakekolathu J,Minden MD,Hood T,Church SE,Reeder S,Altmann H,Sullivan AH,Viboch EJ,Patel T,Ibrahimova N,Warren SE,Arruda A,Liang Y,Smith TH,Foulds GA,Bailey MD,Gowen-MacDonald J,Muth J,Schmitz M,Cesano A,Pockley

更新日期：2020-06-03 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：:Patients with rheumatoid arthritis (RA) may display atypical CD21-/lo B cells in their blood, but the implication of this observation remains unclear. We report here that the group of patients with RA and elevated frequencies of CD21-/lo B cells shows decreased ataxia telangiectasia-mutated (ATM) expression and activa...

journal_title：Science translational medicine

authors： Mensah KA,Chen JW,Schickel JN,Isnardi I,Yamakawa N,Vega-Loza A,Anolik JH,Gatti RA,Gelfand EW,Montgomery RR,Horowitz MC,Craft JE,Meffre E

更新日期：2019-11-20 00:00:00

abstract：:Essential hypertension is a complex, multifactorial disease associated with a high cardiovascular risk and whose genetic-molecular basis is heterogeneous and largely unknown. Although multiple antihypertensive therapies are available, the large individual variability in drug response results in only a modest reduction...

journal_title：Science translational medicine

authors： Ferrandi M,Molinari I,Torielli L,Padoani G,Salardi S,Rastaldi MP,Ferrari P,Bianchi G

更新日期：2010-11-24 00:00:00

abstract：:Urea, the toxic end product of protein catabolism, is elevated in end-stage renal disease (ESRD), although it is unclear whether or how it contributes to disease. Urea can promote the carbamylation of proteins on multiple lysine side chains, including human albumin, which has a predominant carbamylation site on Lys(54...

journal_title：Science translational medicine

authors： Berg AH,Drechsler C,Wenger J,Buccafusca R,Hod T,Kalim S,Ramma W,Parikh SM,Steen H,Friedman DJ,Danziger J,Wanner C,Thadhani R,Karumanchi SA

更新日期：2013-03-06 00:00:00

abstract：:Neutralizing antibodies to the V2 apex antigenic region of the HIV-1 envelope (Env) trimer are among the most prevalent cross-reactive antibodies elicited by natural infection. Two recently described V2-specific antibodies, PGDM1400 and CAP256-VRC26.25, have demonstrated exquisite potency and neutralization breadth ag...

journal_title：Science translational medicine

authors： Julg B,Tartaglia LJ,Keele BF,Wagh K,Pegu A,Sok D,Abbink P,Schmidt SD,Wang K,Chen X,Joyce MG,Georgiev IS,Choe M,Kwong PD,Doria-Rose NA,Le K,Louder MK,Bailer RT,Moore PL,Korber B,Seaman MS,Abdool Karim SS,Morris

更新日期：2017-09-06 00:00:00

abstract：:Depending on age of acquisition, hepatitis B virus (HBV) can induce a cell-mediated immune response that results in either cure or progressive liver injury. In adult-acquired infection, HBV antigens are usually cleared, whereas in infancy-acquired infection, they persist. Individuals infected during infancy therefore ...

journal_title：Science translational medicine

authors： Publicover J,Gaggar A,Jespersen JM,Halac U,Johnson AJ,Goodsell A,Avanesyan L,Nishimura SL,Holdorf M,Mansfield KG,Judge JB,Koshti A,Croft M,Wakil AE,Rosenthal P,Pai E,Cooper S,Baron JL

更新日期：2018-03-21 00:00:00

abstract：:Parenteral and oral routes have been the traditional methods of administering cytotoxic agents to cancer patients. Unfortunately, the maximum potential effect of these cytotoxic agents has been limited because of systemic toxicity and poor tumor perfusion. In an attempt to improve the efficacy of cytotoxic agents whil...

journal_title：Science translational medicine

authors： Byrne JD,Jajja MR,O'Neill AT,Bickford LR,Keeler AW,Hyder N,Wagner K,Deal A,Little RE,Moffitt RA,Stack C,Nelson M,Brooks CR,Lee W,Luft JC,Napier ME,Darr D,Anders CK,Stack R,Tepper JE,Wang AZ,Zamboni WC,Yeh JJ,

更新日期：2015-02-04 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