Google's Project Nightingale highlights the necessity of data science ethics review.

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：:Mutations in POLG disrupt mtDNA replication and cause devastating diseases often with neurological phenotypes. Defining disease mechanisms has been hampered by limited access to human tissues, particularly neurons. Using patient cells carrying POLG mutations, we generated iPSCs and then neural stem cells. These neural...

journal_title：EMBO molecular medicine

authors： Liang KX,Kristiansen CK,Mostafavi S,Vatne GH,Zantingh GA,Kianian A,Tzoulis C,Høyland LE,Ziegler M,Perez RM,Furriol J,Zhang Z,Balafkan N,Hong Y,Siller R,Sullivan GJ,Bindoff LA

更新日期：2020-10-07 00:00:00

abstract：:Loss-of-function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients reach adulthood, and there is also adult-onset (type IV) SMA. There is currently ...

journal_title：EMBO molecular medicine

authors： Sahashi K,Ling KK,Hua Y,Wilkinson JE,Nomakuchi T,Rigo F,Hung G,Xu D,Jiang YP,Lin RZ,Ko CP,Bennett CF,Krainer AR

更新日期：2013-10-01 00:00:00

abstract：:Intellectual disability (ID) is a condition that affects approximately 1% of the population (Maulik et al, 2011). The numbers may differ across nations, owing to different systems and diagnosis entries or lack of such, but usually range between 0.6 and 3% (Stromme & Valvatne, 1998). Persons with ID are a heterogeneous...

journal_title：EMBO molecular medicine

authors： Kolset SO

更新日期：2020-10-07 00:00:00

abstract：:Inherited familial Alzheimer's disease (AD) is characterized by small increases in the ratio of Aβ42 versus Aβ40 peptide which is thought to drive the amyloid plaque formation in the brain of these patients. Little is known however whether ageing, the major risk factor for sporadic AD, affects amyloid beta-peptide (Aβ...

journal_title：EMBO molecular medicine

authors： Guix FX,Wahle T,Vennekens K,Snellinx A,Chávez-Gutiérrez L,Ill-Raga G,Ramos-Fernandez E,Guardia-Laguarta C,Lleó A,Arimon M,Berezovska O,Muñoz FJ,Dotti CG,De Strooper B

更新日期：2012-07-01 00:00:00

abstract：:In the normal quiescent vasculature, only 0.01% of endothelial cells (ECs) are proliferating. However, this proportion increases dramatically following the angiogenic switch during tumor growth or wound healing. Recent evidence suggests that this angiogenic switch is accompanied by a metabolic switch. Here, we show th...

journal_title：EMBO molecular medicine

authors： Coutelle O,Hornig-Do HT,Witt A,Andree M,Schiffmann LM,Piekarek M,Brinkmann K,Seeger JM,Liwschitz M,Miwa S,Hallek M,Krönke M,Trifunovic A,Eming SA,Wiesner RJ,Hacker UT,Kashkar H

更新日期：2014-05-01 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：:Neuroblastoma (NB) is the most deadly extra-cranial solid tumour in children necessitating an urgent need for effective and less toxic treatments. One reason for the lack of efficacious treatments may be the inability of existing drugs to target the tumour-initiating or cancer stem cell population responsible for sust...

journal_title：EMBO molecular medicine

authors： Smith KM,Datti A,Fujitani M,Grinshtein N,Zhang L,Morozova O,Blakely KM,Rotenberg SA,Hansford LM,Miller FD,Yeger H,Irwin MS,Moffat J,Marra MA,Baruchel S,Wrana JL,Kaplan DR

更新日期：2010-09-01 00:00:00

abstract：:Migraine is a common disabling brain disorder. A subtype of migraine with aura (familial hemiplegic migraine type 2: FHM2) is caused by loss-of-function mutations in α2 Na(+),K(+) ATPase (α2 NKA), an isoform almost exclusively expressed in astrocytes in adult brain. Cortical spreading depression (CSD), the phenomenon ...

journal_title：EMBO molecular medicine

authors： Capuani C,Melone M,Tottene A,Bragina L,Crivellaro G,Santello M,Casari G,Conti F,Pietrobon D

更新日期：2016-08-01 00:00:00

abstract：:Cannabis abuse during adolescence confers an increased risk for developing later in life cognitive deficits reminiscent of those observed in schizophrenia, suggesting common pathological mechanisms that remain poorly characterized. In line with previous findings that revealed a role of 5-HT6 receptor-operated mTOR act...

journal_title：EMBO molecular medicine

authors： Berthoux C,Hamieh AM,Rogliardo A,Doucet EL,Coudert C,Ango F,Grychowska K,Chaumont-Dubel S,Zajdel P,Maldonado R,Bockaert J,Marin P,Bécamel C

更新日期：2020-05-08 00:00:00

abstract：:The first EMBO workshop on Emerging Themes in Infection Biology was held last June in the South of France. It gathered scientists working on various pathogens from viruses and bacteria to larger eukaryotic fungi and parasites. Topics included not only the crosstalk between pathogens and their hosts but also the tools ...

journal_title：EMBO molecular medicine

authors： Caldeira S,Dumenil G

更新日期：2010-09-01 00:00:00

abstract：:Senescent cells accumulate in multiple aging-associated diseases, and eliminating these cells has recently emerged as a promising therapeutic approach. Here, we take advantage of the high lysosomal β-galactosidase activity of senescent cells to design a drug delivery system based on the encapsulation of drugs with gal...

journal_title：EMBO molecular medicine

authors： Muñoz-Espín D,Rovira M,Galiana I,Giménez C,Lozano-Torres B,Paez-Ribes M,Llanos S,Chaib S,Muñoz-Martín M,Ucero AC,Garaulet G,Mulero F,Dann SG,VanArsdale T,Shields DJ,Bernardos A,Murguía JR,Martínez-Máñez R,Serrano M

更新日期：2018-09-01 00:00:00

abstract：:The cell fate determinant Numb is frequently downregulated in human breast cancers (BCs), resulting in p53 inactivation and an aggressive disease course. In the mouse mammary gland, Numb/p53 downregulation leads to aberrant tissue morphogenesis, expansion of the stem cell compartment, and emergence of cancer stem cell...

journal_title：EMBO molecular medicine

authors： Tosoni D,Pambianco S,Ekalle Soppo B,Zecchini S,Bertalot G,Pruneri G,Viale G,Di Fiore PP,Pece S

更新日期：2017-05-01 00:00:00

abstract：:EMBO Molecular Medicine is enriched by a number of innovative policies designed to enhance the editorial process: peer review process files, de-emphasis of confidential referee comments and cross-refereeing. ...

journal_title：EMBO molecular medicine

authors： Pulverer B

更新日期：2010-09-01 00:00:00

abstract：:Lipid droplets (LDs) are dynamic, cytosolic lipid-storage organelles found in nearly all cell types. Too many or too few LDs during excess or deficient fat storage lead to many different human diseases. Recent insights into LD biology and LD protein functions shed new light on mechanisms underlying those metabolic pat...

journal_title：EMBO molecular medicine

authors： Krahmer N,Farese RV Jr,Walther TC

更新日期：2013-07-01 00:00:00

abstract：:Resistance to tamoxifen is a clinically major challenge in breast cancer treatment. Although downregulation of estrogen receptor-alpha (ERα) is the dominant mechanism of tamoxifen resistance, the reason for ERα decrease during tamoxifen therapy remains elusive. Herein, we reported that Spalt-like transcription factor ...

journal_title：EMBO molecular medicine

authors： Ye L,Lin C,Wang X,Li Q,Li Y,Wang M,Zhao Z,Wu X,Shi D,Xiao Y,Ren L,Jian Y,Yang M,Ou R,Deng G,Ouyang Y,Chen X,Li J,Song L

更新日期：2019-12-01 00:00:00

abstract：:The molecular networks that control the progression of chronic kidney diseases (CKD) are poorly defined. We have recently shown that the susceptibility to development of renal lesions after nephron reduction is controlled by a locus on mouse chromosome 6 and requires epidermal growth factor receptor (EGFR) activation....

journal_title：EMBO molecular medicine

authors： Laouari D,Burtin M,Phelep A,Bienaime F,Noel LH,Lee DC,Legendre C,Friedlander G,Pontoglio M,Terzi F

更新日期：2012-08-01 00:00:00

abstract：:Human respiratory syncytial virus (hRSV) and human metapneumovirus (hMPV), two members of the Pneumoviridae family, account for the majority of severe lower respiratory tract infections worldwide in very young children. They are also a frequent cause of morbidity and mortality in the elderly and immunocompromised adul...

journal_title：EMBO molecular medicine

authors： Olmedillas E,Cano O,Martínez I,Luque D,Terrón MC,McLellan JS,Melero JA,Más V

更新日期：2018-02-01 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：: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 six transmembrane protein of prostate 2 (STAMP2) is an androgen-regulated gene whose mRNA expression is increased in prostate cancer (PCa). Here, we show that STAMP2 protein expression is increased in human PCa compared with benign prostate that is also correlated with tumor grade and treatment response. We also s...

journal_title：EMBO molecular medicine

authors： Jin Y,Wang L,Qu S,Sheng X,Kristian A,Mælandsmo GM,Pällmann N,Yuca E,Tekedereli I,Gorgulu K,Alpay N,Sood A,Lopez-Berestein G,Fazli L,Rennie P,Risberg B,Wæhre H,Danielsen HE,Ozpolat B,Saatcioglu F

更新日期：2015-03-01 00:00:00

abstract：:Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder. Unraveling the responsible molecular pathology helps illuminate mechanisms r...

journal_title：EMBO molecular medicine

authors： Bosakova M,Abraham SP,Nita A,Hruba E,Buchtova M,Taylor SP,Duran I,Martin J,Svozilova K,Barta T,Varecha M,Balek L,Kohoutek J,Radaszkiewicz T,Pusapati GV,Bryja V,Rush ET,Thiffault I,Nickerson DA,Bamshad MJ,Universit

更新日期：2020-11-06 00:00:00

abstract：:Secreted Semaphorin 3E (Sema3E) promotes cancer cell invasiveness and metastatic spreading. The pro-metastatic activity of Sema3E is due to its proteolytic fragment p61, capable of transactivating the oncogenic tyrosine kinase ErbB2 that associates with the Sema3E receptor PlexinD1 in cancer cells. Here, we show that ...

journal_title：EMBO molecular medicine

authors： Casazza A,Kigel B,Maione F,Capparuccia L,Kessler O,Giraudo E,Mazzone M,Neufeld G,Tamagnone L

更新日期：2012-03-01 00:00:00

abstract：:Perturbation of lipid metabolism favours progression of Alzheimer disease, in which processing of Amyloid Precursor Protein (APP) has important implications. APP cleavage is tightly regulated by cholesterol and APP fragments regulate lipid homeostasis. Here, we investigated whether up or down regulation of full-length...

journal_title：EMBO molecular medicine

authors： Pierrot N,Tyteca D,D'auria L,Dewachter I,Gailly P,Hendrickx A,Tasiaux B,Haylani LE,Muls N,N'kuli F,Laquerrière A,Demoulin JB,Campion D,Brion JP,Courtoy PJ,Kienlen-Campard P,Octave JN

更新日期：2013-04-01 00:00:00

abstract：:Activation of non-shivering thermogenesis (NST) in brown adipose tissue (BAT) has been proposed as an anti-obesity treatment. Moreover, cold-induced glucose uptake could normalize blood glucose levels in insulin-resistant patients. It is therefore important to identify novel regulators of NST and cold-induced glucose ...

journal_title：EMBO molecular medicine

authors： Albert V,Svensson K,Shimobayashi M,Colombi M,Muñoz S,Jimenez V,Handschin C,Bosch F,Hall MN

更新日期：2016-03-01 00:00:00

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：:Sequence variations occurring in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2) support an essential function of microglia and innate immunity in the pathogenesis of Alzheimer's disease (AD) and other neurodegenerative disorders. TREM2 matures within the secretory pathway, and its ectod...

journal_title：EMBO molecular medicine

authors： Schlepckow K,Kleinberger G,Fukumori A,Feederle R,Lichtenthaler SF,Steiner H,Haass C

更新日期：2017-10-01 00:00:00

abstract：:Arteriogenesis-the growth of collateral arterioles-partially compensates for the progressive occlusion of large conductance arteries as it may occur as a consequence of coronary, cerebral or peripheral artery disease. Despite being clinically highly relevant, mechanisms driving this process remain elusive. In this con...

journal_title：EMBO molecular medicine

authors： Arnold C,Feldner A,Pfisterer L,Hödebeck M,Troidl K,Genové G,Wieland T,Hecker M,Korff T

更新日期：2014-08-01 00:00:00

abstract：:Systemic toxicities have severely limited the clinical application of tumor necrosis factor (TNF) as an anticancer agent. Activity-on-Target cytokines (AcTakines) are a novel class of immunocytokines with improved therapeutic index. A TNF-based AcTakine targeted to CD13 enables selective activation of the tumor neovas...

journal_title：EMBO molecular medicine

authors： Huyghe L,Van Parys A,Cauwels A,Van Lint S,De Munter S,Bultinck J,Zabeau L,Hostens J,Goethals A,Vanderroost N,Verhee A,Uzé G,Kley N,Peelman F,Vandekerckhove B,Brouckaert P,Tavernier J

更新日期：2020-02-07 00:00:00

abstract：:The Plasmodium-infected hepatocyte has been considered necessary to prime the immune responses leading to sterile protection after vaccination with attenuated sporozoites. However, it has recently been demonstrated that priming also occurs in the skin. We wished to establish if sterile protection could be obtained in ...

journal_title：EMBO molecular medicine

authors： Obeid M,Franetich JF,Lorthiois A,Gego A,Grüner AC,Tefit M,Boucheix C,Snounou G,Mazier D

更新日期：2013-02-01 00:00:00