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abstract：:Familial Mediterranean fever (FMF) is the most frequent hereditary systemic autoinflammatory syndrome. FMF is usually caused by biallelic mutations in the MEFV gene, encoding Pyrin. Conclusive genetic evidence lacks for about 30% of patients diagnosed with clinical FMF. Pyrin is an inflammasome sensor maintained inact...

journal_title：EMBO molecular medicine

authors： Magnotti F,Lefeuvre L,Benezech S,Malsot T,Waeckel L,Martin A,Kerever S,Chirita D,Desjonqueres M,Duquesne A,Gerfaud-Valentin M,Laurent A,Sève P,Popoff MR,Walzer T,Belot A,Jamilloux Y,Henry T

更新日期：2019-11-07 00:00:00

abstract：:In the last century, vaccination has been the most effective medical intervention to reduce death and morbidity caused by infectious diseases. It is believed that vaccines save at least 2-3 million lives per year worldwide. Smallpox has been eradicated and polio has almost disappeared worldwide through global vaccine ...

journal_title：EMBO molecular medicine

authors： Delany I,Rappuoli R,De Gregorio E

更新日期：2014-06-01 00:00:00

abstract：:Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co-chaperone which regulates the chaperone HSPA5, were identified as a major cause of MSS. We here examined the pathophysiological significance of SIL1 muta...

journal_title：EMBO molecular medicine

authors： Inaguma Y,Hamada N,Tabata H,Iwamoto I,Mizuno M,Nishimura YV,Ito H,Morishita R,Suzuki M,Ohno K,Kumagai T,Nagata K

更新日期：2014-03-01 00:00:00

abstract：:The zinc transporter protein ZIP13 plays critical roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). Here, we report the molecular pathogenic mechanism of SCD-EDS caused by two different mut...

journal_title：EMBO molecular medicine

authors： Bin BH,Hojyo S,Hosaka T,Bhin J,Kano H,Miyai T,Ikeda M,Kimura-Someya T,Shirouzu M,Cho EG,Fukue K,Kambe T,Ohashi W,Kim KH,Seo J,Choi DH,Nam YJ,Hwang D,Fukunaka A,Fujitani Y,Yokoyama S,Superti-Furga A,Ikegawa S,

更新日期：2014-08-01 00:00:00

abstract：:Diabetic nephropathy is the leading cause of end-stage renal disease. Although dysfunction of podocytes, also termed glomerular visceral epithelial cells, is critically associated with diabetic nephropathy, the mechanism underlying podocyte dysfunction still remains obscure. Here, we identify that KDM6A, a histone lys...

journal_title：EMBO molecular medicine

authors： Lin CL,Hsu YC,Huang YT,Shih YH,Wang CJ,Chiang WC,Chang PJ

更新日期：2019-05-01 00:00:00

abstract：:On November 14 last year, the British Guardian published an account from an anonymous whistleblower at Google, accusing the company of misconduct in regard to handling sensitive health data. The whistleblower works for Project Nightingale, an attempt by Google to get into the lucrative US healthcare market, by storing...

journal_title：EMBO molecular medicine

authors： Schneble CO,Elger BS,Shaw DM

更新日期：2020-03-06 00:00:00

abstract：:Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(...

journal_title：EMBO molecular medicine

authors： Ferone G,Thomason HA,Antonini D,De Rosa L,Hu B,Gemei M,Zhou H,Ambrosio R,Rice DP,Acampora D,van Bokhoven H,Del Vecchio L,Koster MI,Tadini G,Spencer-Dene B,Dixon M,Dixon J,Missero C

更新日期：2012-03-01 00:00:00

abstract：:Conventional maximum-tolerated dose (MTD) chemotherapy relies on periodic, massive cancer cell ablation events followed by treatment-free intermissions, stereotypically resulting in resistance, relapse, and mortality. Furthermore, MTD chemotherapy can promote metastatic dissemination via activation of a transcriptiona...

journal_title：EMBO molecular medicine

authors： Schito L,Rey S,Xu P,Man S,Cruz-Muñoz W,Kerbel RS

更新日期：2020-09-07 00:00:00

abstract：:Phosphodiesterase type 10A (PDE10A) is highly enriched in striatum and is under evaluation as a drug target for several psychiatric/neurodegenerative diseases. Preclinical studies implicate PDE10A in the regulation of energy homeostasis, but the mechanisms remain unclear. By utilizing small-animal PET/MRI and the nove...

journal_title：EMBO molecular medicine

authors： Hankir MK,Kranz M,Gnad T,Weiner J,Wagner S,Deuther-Conrad W,Bronisch F,Steinhoff K,Luthardt J,Klöting N,Hesse S,Seibyl JP,Sabri O,Heiker JT,Blüher M,Pfeifer A,Brust P,Fenske WK

更新日期：2016-07-01 00:00:00

abstract：:The tumor suppressors Pten and p53 are frequently lost in breast cancer, yet the consequences of their combined inactivation are poorly understood. Here, we show that mammary-specific deletion of Pten via WAP-Cre, which targets alveolar progenitors, induced tumors with shortened latency compared to those induced by MM...

journal_title：EMBO molecular medicine

authors： Liu JC,Voisin V,Wang S,Wang DY,Jones RA,Datti A,Uehling D,Al-awar R,Egan SE,Bader GD,Tsao M,Mak TW,Zacksenhaus E

更新日期：2014-12-01 00:00:00

abstract：:Sterile inflammation underlies many diseases of the cornea including serious chemical burns and the common dry eye syndrome. In search for therapeutic targets for corneal inflammation, we defined the kinetics of neutrophil infiltration in a model of sterile injury to the cornea and identified molecular and cellular me...

journal_title：EMBO molecular medicine

authors： Oh JY,Choi H,Lee RH,Roddy GW,Ylöstalo JH,Wawrousek E,Prockop DJ

更新日期：2012-05-01 00:00:00

abstract：:The current seasonal inactivated influenza vaccine protects only against a narrow range of virus strains as it triggers a dominant antibody response toward the hypervariable hemagglutinin (HA) head region. The discovery of rare broadly protective antibodies against conserved regions in influenza virus proteins has pro...

journal_title：EMBO molecular medicine

authors： Demminger DE,Walz L,Dietert K,Hoffmann H,Planz O,Gruber AD,von Messling V,Wolff T

更新日期：2020-05-08 00:00:00

abstract：:RAD51 recombinase activity plays a critical role for cancer cell proliferation and survival, and often contributes to drug-resistance. Abnormally elevated RAD51 function and hyperactive homologous recombination (HR) rates have been found in a panel of cancers, including breast cancer and chronic myeloid leukaemia (CML...

journal_title：EMBO molecular medicine

authors： Zhu J,Zhou L,Wu G,Konig H,Lin X,Li G,Qiu XL,Chen CF,Hu CM,Goldblatt E,Bhatia R,Chamberlin AR,Chen PL,Lee WH

更新日期：2013-03-01 00:00:00

abstract：:Breast cancer is a molecularly, biologically and clinically heterogeneous group of disorders. Understanding this diversity is essential to improving diagnosis and optimizing treatment. Both genetic and acquired epigenetic abnormalities participate in cancer, but the involvement of the epigenome in breast cancer and it...

journal_title：EMBO molecular medicine

authors： Dedeurwaerder S,Desmedt C,Calonne E,Singhal SK,Haibe-Kains B,Defrance M,Michiels S,Volkmar M,Deplus R,Luciani J,Lallemand F,Larsimont D,Toussaint J,Haussy S,Rothé F,Rouas G,Metzger O,Majjaj S,Saini K,Putmans P,Ham

更新日期：2011-12-01 00:00:00

abstract：:Translational read-through-inducing drugs (TRIDs) promote read-through of nonsense mutations, placing them in the spotlight of current gene-based therapeutic research. Here, we compare for the first time the relative efficacies of new-generation aminoglycosides NB30, NB54 and the chemical compound PTC124 on retinal to...

journal_title：EMBO molecular medicine

authors： Goldmann T,Overlack N,Möller F,Belakhov V,van Wyk M,Baasov T,Wolfrum U,Nagel-Wolfrum K

更新日期：2012-11-01 00:00:00

abstract：:Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition plays an important role in neurological disorders. Gephyrin is a central player at inhibitory postsynapses, directly binds and organizes GABAA and glycine receptors (GABAARs and GlyRs), and is thereby indispensable ...

journal_title：EMBO molecular medicine

authors： Dejanovic B,Djémié T,Grünewald N,Suls A,Kress V,Hetsch F,Craiu D,Zemel M,Gormley P,Lal D,EuroEPINOMICS Dravet working group.,Myers CT,Mefford HC,Palotie A,Helbig I,Meier JC,De Jonghe P,Weckhuysen S,Schwarz G

更新日期：2015-12-01 00:00:00

abstract：:There is an urgent need for new tools to combat the ongoing tuberculosis (TB) pandemic. Gene expression profiles based on blood signatures have proved useful in identifying genes that enable classification of TB patients, but have thus far been complex. Using real-time PCR analysis, we evaluated the expression profile...

journal_title：EMBO molecular medicine

authors： Maertzdorf J,McEwen G,Weiner J 3rd,Tian S,Lader E,Schriek U,Mayanja-Kizza H,Ota M,Kenneth J,Kaufmann SH

更新日期：2016-02-01 00:00:00

abstract：:Transferring large or multiple genes into primary human stem/progenitor cells is challenged by restrictions in vector capacity, and this hurdle limits the success of gene therapy. A paradigm is Duchenne muscular dystrophy (DMD), an incurable disorder caused by mutations in the largest human gene: dystrophin. The combi...

journal_title：EMBO molecular medicine

authors： Benedetti S,Uno N,Hoshiya H,Ragazzi M,Ferrari G,Kazuki Y,Moyle LA,Tonlorenzi R,Lombardo A,Chaouch S,Mouly V,Moore M,Popplewell L,Kazuki K,Katoh M,Naldini L,Dickson G,Messina G,Oshimura M,Cossu G,Tedesco FS

更新日期：2018-02-01 00:00:00

abstract：:Chimeric antigen receptor (CAR) T cell therapy, together with checkpoint inhibition, has been celebrated as a breakthrough technology due to the substantial benefit observed in clinical trials with patients suffering from relapsed or refractory B-cell malignancies. In this review, we provide a comprehensive overview o...

journal_title：EMBO molecular medicine

authors： Hartmann J,Schüßler-Lenz M,Bondanza A,Buchholz CJ

更新日期：2017-09-01 00:00:00

abstract：:Vascular endothelial growth factor C (VEGF-C) binding to its tyrosine kinase receptor VEGFR-3 drives lymphatic vessel growth during development and in pathological processes. Although the VEGF-C/VEGFR-3 pathway provides a target for treatment of cancer and lymphedema, the physiological functions of VEGF-C in adult vas...

journal_title：EMBO molecular medicine

authors： Nurmi H,Saharinen P,Zarkada G,Zheng W,Robciuc MR,Alitalo K

更新日期：2015-11-01 00:00:00

abstract：:Germ-line mutations in the BRCA1 gene strongly predispose women to breast cancer (lifetime risk up to 80%). Furthermore, the BRCA1 protein is absent or present at very low levels in about one third of sporadic breast cancers. However, the mechanisms underlying BRCA1 somatic inactivation appear multiple and are still n...

journal_title：EMBO molecular medicine

authors： Garcia AI,Buisson M,Bertrand P,Rimokh R,Rouleau E,Lopez BS,Lidereau R,Mikaélian I,Mazoyer S

更新日期：2011-05-01 00:00:00

abstract：:Endothelial dysfunction is critically involved in the pathogenesis of pulmonary arterial hypertension (PAH) and that exogenously administered microRNA may be of therapeutic benefit. Lower levels of miR-483 were found in serum from patients with idiopathic pulmonary arterial hypertension (IPAH), particularly those with...

journal_title：EMBO molecular medicine

authors： Zhang J,He Y,Yan X,Chen S,He M,Lei Y,Zhang J,Gongol B,Gu M,Miao Y,Bai L,Cui X,Wang X,Zhang Y,Fan F,Li Z,Shen Y,Chou CH,Huang HD,Malhotra A,Rabinovitch M,Jing ZC,Shyy JY

更新日期：2020-05-08 00:00:00

abstract：:The tumour microenvironment is known to play an integral role in facilitating cancer progression at advanced stages, but its function in some pre-cancerous lesions remains elusive. We have used the (V600) (E)BRAF-driven mouse lung model that develop premalignant lesions to understand stroma-tumour interactions during ...

journal_title：EMBO molecular medicine

authors： Kamata T,Jin H,Giblett S,Patel B,Patel F,Foster C,Pritchard C

更新日期：2015-09-01 00:00:00

abstract：:Wnt/β-catenin signalling has been suggested to be active in basal-like breast cancer. However, in highly aggressive metastatic triple-negative breast cancers (TNBC) the role of β-catenin and the underlying mechanism(s) for the aggressiveness of TNBC remain unknown. We illustrate that WNT10B induces transcriptionally a...

journal_title：EMBO molecular medicine

authors： Wend P,Runke S,Wend K,Anchondo B,Yesayan M,Jardon M,Hardie N,Loddenkemper C,Ulasov I,Lesniak MS,Wolsky R,Bentolila LA,Grant SG,Elashoff D,Lehr S,Latimer JJ,Bose S,Sattar H,Krum SA,Miranda-Carboni GA

更新日期：2013-02-01 00:00:00

abstract：:Muscle-invasive forms of urothelial carcinomas are responsible for most mortality in bladder cancer. Finding new treatments for invasive bladder tumours requires adequate animal models to decipher the mechanisms of progression, in particular the way tumours interact with their microenvironment. Herein, using the murin...

journal_title：EMBO molecular medicine

authors： El Behi M,Krumeich S,Lodillinsky C,Kamoun A,Tibaldi L,Sugano G,De Reynies A,Chapeaublanc E,Laplanche A,Lebret T,Allory Y,Radvanyi F,Lantz O,Eiján AM,Bernard-Pierrot I,Théry C

更新日期：2013-12-01 00:00:00

abstract：:KCNN3, encoding the small conductance calcium-activated potassium channel SK3, harbours a polymorphic CAG repeat in the amino-terminal coding region with yet unproven function. Hypothesizing that KCNN3 genotypes do not influence susceptibility to schizophrenia but modify its phenotype, we explored their contribution t...

journal_title：EMBO molecular medicine

authors： Grube S,Gerchen MF,Adamcio B,Pardo LA,Martin S,Malzahn D,Papiol S,Begemann M,Ribbe K,Friedrichs H,Radyushkin KA,Müller M,Benseler F,Riggert J,Falkai P,Bickeböller H,Nave KA,Brose N,Stühmer W,Ehrenreich H

更新日期：2011-06-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence va...

journal_title：EMBO molecular medicine

authors： Falik-Zaccai TC,Barsheshet Y,Mandel H,Segev M,Lorber A,Gelberg S,Kalfon L,Ben Haroush S,Shalata A,Gelernter-Yaniv L,Chaim S,Raviv Shay D,Khayat M,Werbner M,Levi I,Shoval Y,Tal G,Shalev S,Reuveni E,Avitan-Hersh E,V

更新日期：2017-03-01 00:00:00

abstract：:Both the incidence and prevalence of inflammatory bowel disease (IBD) is increasing globally; in the industrialized world up to 0.5% of the population are affected and around 4.2 million individuals suffer from IBD in Europe and North America combined. Successful engraftment in experimental colitis models suggests tha...

journal_title：EMBO molecular medicine

authors： Holmberg FE,Seidelin JB,Yin X,Mead BE,Tong Z,Li Y,Karp JM,Nielsen OH

更新日期：2017-05-01 00:00:00

abstract：:Mitochondrial metabolism and the generation of reactive oxygen species (ROS) contribute to the acquisition of DNA mutations and genomic instability in cancer. How genomic instability influences the metabolic capacity of cancer cells is nevertheless poorly understood. Here, we show that homologous recombination-defecti...

journal_title：EMBO molecular medicine

authors： Lahiguera Á,Hyroššová P,Figueras A,Garzón D,Moreno R,Soto-Cerrato V,McNeish I,Serra V,Lazaro C,Barretina P,Brunet J,Menéndez J,Matias-Guiu X,Vidal A,Villanueva A,Taylor-Harding B,Tanaka H,Orsulic S,Junza A,Yanes O,

更新日期：2020-06-08 00:00:00

abstract：:Progression to severe disease is a difficult problem in treating coronavirus disease 2019 (COVID-19). The purpose of this study is to explore changes in markers of severe disease in COVID-19 patients. Sixty-nine severe COVID-19 patients were included. Patients with severe disease showed significant lymphocytopenia. El...

journal_title：EMBO molecular medicine

authors： Liu T,Zhang J,Yang Y,Ma H,Li Z,Zhang J,Cheng J,Zhang X,Zhao Y,Xia Z,Zhang L,Wu G,Yi J

更新日期：2020-07-07 00:00:00