Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.

abstract：:To ensure cell survival, it is essential that the ubiquitous pro-apoptotic machinery is kept quiescent. As death is irreversible, cells must continually integrate developmental information with regulatory inputs to control the switch between repressing and activating apoptosis. Inappropriate activation or suppression ...

journal_title：Nature

authors： Bloss TA,Witze ES,Rothman JH

更新日期：2003-08-28 00:00:00

abstract：:Integral membrane proteins are encoded by approximately 25% of all protein-coding genes1. In eukaryotes, the majority of membrane proteins are inserted, modified and folded at the endoplasmic reticulum (ER)2. Research over the past several decades has determined how membrane proteins are targeted to the ER and how ind...

journal_title：Nature

authors： Chitwood PJ,Hegde RS

更新日期：2020-08-01 00:00:00

abstract：:Assembly of multi-component supramolecular machines is fundamental to biology, yet in most cases, assembly pathways and their control are poorly understood. An example is the type III secretion machine, which mediates the transfer of bacterial virulence proteins into host cells. A central component of this nanomachine...

journal_title：Nature

authors： Marlovits TC,Kubori T,Lara-Tejero M,Thomas D,Unger VM,Galán JE

更新日期：2006-06-01 00:00:00

abstract：:Why infer evolution when you can watch it happen in real time? This is the basic premise of using populations of fast-replicating microorganisms in test tubes to study evolution. The approach, known as experimental evolution, has provided a way of testing many of the key hypotheses that arose from the modern evolution...

journal_title：Nature

authors： Buckling A,Craig Maclean R,Brockhurst MA,Colegrave N

更新日期：2009-02-12 00:00:00

abstract：:The protein TFIIB is a general transcription initiation factor that interacts with a promoter complex (D.DNA) containing the TATA-binding subunit (TFIID tau, or TBP) of TFIID to facilitate subsequent interaction with RNA polymerase II (ref. 2) through the associated TFIIF (ref. 3). The potential bridging function of T...

journal_title：Nature

authors： Hisatake K,Roeder RG,Horikoshi M

更新日期：1993-06-24 00:00:00

abstract：:B lymphocytes originate from pluripotential haematopoietic stem cells and differentiate into immunoglobulin (Ig)-producing cells. B-cell lineage differentiation is accompanied by two types of immunoglobulin gene rearrangements--rearrangement of V, D and J gene segments to create a functional V gene and rearrangement o...

journal_title：Nature

authors： Sugiyama H,Akira S,Kikutani H,Kishimoto S,Yamamura Y,Kishimoto T

更新日期：1983-06-30 00:00:00

abstract：:Null mutations of glass specifically remove photoreceptor cells, leaving other cell types intact. We have isolated the glass gene and have shown that its transcript encodes a putative protein of 604 amino acids with five zinc-fingers. The glass product may be a transcription factor required for the development of a si...

journal_title：Nature

authors： Moses K,Ellis MC,Rubin GM

更新日期：1989-08-17 00:00:00

abstract：:Mesolimbic dopamine-releasing neurons appear to be important in the brain reward system. One behavioural paradigm that supports this hypothesis is intracranial self-stimulation (ICS), during which animals repeatedly press a lever to stimulate their own dopamine-releasing neurons electrically. Here we study dopamine re...

journal_title：Nature

authors： Garris PA,Kilpatrick M,Bunin MA,Michael D,Walker QD,Wightman RM

更新日期：1999-03-04 00:00:00

abstract：:Connectivity in the cortex is organized at multiple scales, suggesting that scale-dependent correlated activity is particularly important for understanding the behaviour of sensory cortices and their function in stimulus encoding. We analysed the scale-dependent structure of cortical interactions by using maximum entr...

journal_title：Nature

authors： Ohiorhenuan IE,Mechler F,Purpura KP,Schmid AM,Hu Q,Victor JD

更新日期：2010-07-29 00:00:00

abstract：:Acyclovir (9-[2-hydroxyethoxymethyl]guanine or ACV) is a nucleoside analogue with considerable potential for the treatment of herpes simplex virus (HSV) infections in man. Two virus-coded enzymes are important in the mechanism of action of this drug: thymidine kinase (TK) which initiates its activation by converting i...

journal_title：Nature

authors： Darby G,Field HJ,Salisbury SA

更新日期：1981-01-01 00:00:00

abstract：:Induced pluripotent stem cells (iPSCs) have been generated by enforced expression of defined sets of transcription factors in somatic cells. It remains controversial whether iPSCs are molecularly and functionally equivalent to blastocyst-derived embryonic stem (ES) cells. By comparing genetically identical mouse ES ce...

journal_title：Nature

authors： Stadtfeld M,Apostolou E,Akutsu H,Fukuda A,Follett P,Natesan S,Kono T,Shioda T,Hochedlinger K

更新日期：2010-05-13 00:00:00

abstract：:Recognition of a functional 3' splice site in pre-mRNA splicing requires a heterodimer of the proteins U2AF65/U2AF35. U2AF65 binds to RNA at the polypyrimidine tract, whereas U2AF35 is thought to interact through its arginine/serine-rich (RS) domain with other RS-domain-containing factors bound at the 5' splice site, ...

journal_title：Nature

authors： Tronchère H,Wang J,Fu XD

更新日期：1997-07-24 00:00:00

abstract：:Lake Victoria, together with its satellite lakes, harbours roughly 200 endemic forms of cichlid fishes that are classified as 'haplochromines' and yet the lake system is less than a million years old. This 'flock' has attracted attention because of the possibility that it evolved within the lake from one ancestral spe...

journal_title：Nature

authors： Meyer A,Kocher TD,Basasibwaki P,Wilson AC

更新日期：1990-10-11 00:00:00

abstract：:Landscapes modified by glacial erosion show a distinct distribution of surface area with elevation (hypsometry). In particular, the height of these regions is influenced by climatic gradients controlling the altitude where glacial and periglacial processes are the most active, and as a result, surface area is focused ...

journal_title：Nature

authors： Pedersen VK,Egholm DL

更新日期：2013-01-10 00:00:00

abstract：:Phosphorylation of membrane components is thought to be an important process in membrane function. Phosphorylated proteins and a special class of phospholipids, the (poly)phosphoinositides (poly PI), are implicated in the regulation of membrane permeability and synaptic transmission in neurones. For many years, protei...

journal_title：Nature

authors： Jolles J,Zwiers H,van Dongen CJ,Schotman P,Wirtz KW,Gispen WH

更新日期：1980-08-07 00:00:00

abstract：:Mutants of cdc2+ can disrupt the dependency of S phase on completion of the previous mitosis. By changing the state of p34cdc2 it is possible to reprogramme a cell from entering mitosis to undergoing S phase. This leads to the proposal that the cell cycle can be considered a p34cdc2 cycle, and has implications for the...

journal_title：Nature

authors： Broek D,Bartlett R,Crawford K,Nurse P

更新日期：1991-01-31 00:00:00

abstract：:Fast radio bursts (FRBs) are millisecond-duration radio transients1,2 of unknown origin. Two possible mechanisms that could generate extremely coherent emission from FRBs invoke neutron star magnetospheres3-5 or relativistic shocks far from the central energy source6-8. Detailed polarization observations may help us t...

journal_title：Nature

authors： Luo R,Wang BJ,Men YP,Zhang CF,Jiang JC,Xu H,Wang WY,Lee KJ,Han JL,Zhang B,Caballero RN,Chen MZ,Chen XL,Gan HQ,Guo YJ,Hao LF,Huang YX,Jiang P,Li H,Li J,Li ZX,Luo JT,Pan J,Pei X,Qian L,Sun JH,Wang M,Wa

更新日期：2020-10-01 00:00:00

abstract：:Topological physics relies on the structure of the eigenstates of the Hamiltonians. The geometry of the eigenstates is encoded in the quantum geometric tensor1-comprising the Berry curvature2 (crucial for topological matter)3 and the quantum metric4, which defines the distance between the eigenstates. Knowledge of the...

journal_title：Nature

authors： Gianfrate A,Bleu O,Dominici L,Ardizzone V,De Giorgi M,Ballarini D,Lerario G,West KW,Pfeiffer LN,Solnyshkov DD,Sanvitto D,Malpuech G

更新日期：2020-02-01 00:00:00

abstract：:The sequencing of ancient DNA has enabled the reconstruction of speciation, migration and admixture events for extinct taxa1. However, the irreversible post-mortem degradation2 of ancient DNA has so far limited its recovery-outside permafrost areas-to specimens that are not older than approximately 0.5 million years (...

journal_title：Nature

authors： Cappellini E,Welker F,Pandolfi L,Ramos-Madrigal J,Samodova D,Rüther PL,Fotakis AK,Lyon D,Moreno-Mayar JV,Bukhsianidze M,Rakownikow Jersie-Christensen R,Mackie M,Ginolhac A,Ferring R,Tappen M,Palkopoulou E,Dickinson MR,S

更新日期：2019-10-01 00:00:00

abstract：:P2Y receptors (P2YRs), a family of purinergic G-protein-coupled receptors (GPCRs), are activated by extracellular nucleotides. There are a total of eight distinct functional P2YRs expressed in human, which are subdivided into P2Y1-like receptors and P2Y12-like receptors. Their ligands are generally charged molecules w...

journal_title：Nature

authors： Zhang K,Zhang J,Gao ZG,Zhang D,Zhu L,Han GW,Moss SM,Paoletta S,Kiselev E,Lu W,Fenalti G,Zhang W,Müller CE,Yang H,Jiang H,Cherezov V,Katritch V,Jacobson KA,Stevens RC,Wu B,Zhao Q

更新日期：2014-05-01 00:00:00

abstract：:At fertilization, an increase of cytosolic calcium ions (Ca2+) triggers various activation responses in animal eggs. In vertebrates, these responses include exit from metaphase arrest in meiosis II (MII exit) and cortical remodelling initiated by cortical granule exocytosis. Although the essential requirement of Ca2+/...

journal_title：Nature

authors： Nishiyama T,Yoshizaki N,Kishimoto T,Ohsumi K

更新日期：2007-09-20 00:00:00

abstract：:The pseudogap is a partial gap in the electronic density of states that opens in the normal (non-superconducting) state of cuprate superconductors and whose origin is a long-standing puzzle. Its connection to the Mott insulator phase at low doping (hole concentration, p) remains ambiguous and its relation to the charg...

journal_title：Nature

authors： Badoux S,Tabis W,Laliberté F,Grissonnanche G,Vignolle B,Vignolles D,Béard J,Bonn DA,Hardy WN,Liang R,Doiron-Leyraud N,Taillefer L,Proust C

更新日期：2016-03-10 00:00:00

abstract：:During the evolution of the beta-globin family gene in vertebrates, different globin genes acquired different developmental patterns of expression. In mammals, specific 'embryonic' beta-like globins are synthesized in the earliest erythroid cells, which differentiate in the yolk sac of the embryo. In most mammals the ...

journal_title：Nature

authors： Chada K,Magram J,Costantini F

更新日期：1986-02-20 00:00:00

abstract：:DNA mismatch repair is critical for increasing replication fidelity in organisms ranging from bacteria to humans. MutS protein, a member of the ABC ATPase superfamily, recognizes mispaired and unpaired bases in duplex DNA and initiates mismatch repair. Mutations in human MutS genes cause a predisposition to hereditary...

journal_title：Nature

authors： Obmolova G,Ban C,Hsieh P,Yang W

更新日期：2000-10-12 00:00:00

abstract：:Cryo-electron microscopy (cryo-EM) has the capacity to capture molecular machines in action1-3. ATP-binding cassette (ABC) exporters are highly dynamic membrane proteins that extrude a wide range of substances from the cytosol4-6 and thereby contribute to essential cellular processes, adaptive immunity and multidrug r...

journal_title：Nature

authors： Hofmann S,Januliene D,Mehdipour AR,Thomas C,Stefan E,Brüchert S,Kuhn BT,Geertsma ER,Hummer G,Tampé R,Moeller A

更新日期：2019-07-01 00:00:00

abstract：:To artists, the face is a mirror of the soul. To biologists, the face reflects remarkable structural diversity--think of bulldogs and wolfhounds or galapagos finches. How do such variations in skeletal form arise? Do the same mechanisms control skeletogenesis elsewhere in the body? The answers lie in the molecular mac...

journal_title：Nature

authors： Helms JA,Schneider RA

更新日期：2003-05-15 00:00:00

abstract：:Climate models with increased levels of carbon dioxide predict that global warming causes heating in the tropics, but investigations of ancient climates based on palaeodata have generally indicated cool tropical temperatures during supposed greenhouse episodes. For example, in the Late Cretaceous and Eocene epochs the...

journal_title：Nature

authors： Pearson PN,Ditchfield PW,Singano J,Harcourt-Brown KG,Nicholas CJ,Olsson RK,Shackleton NJ,Hall MA

更新日期：2001-10-04 00:00:00

abstract：:Photoreceptor loss is the final common endpoint in most retinopathies that lead to irreversible blindness, and there are no effective treatments to restore vision1,2. Chemical reprogramming of fibroblasts offers an opportunity to reverse vision loss; however, the generation of sensory neuronal subtypes such as photore...

journal_title：Nature

authors： Mahato B,Kaya KD,Fan Y,Sumien N,Shetty RA,Zhang W,Davis D,Mock T,Batabyal S,Ni A,Mohanty S,Han Z,Farjo R,Forster MJ,Swaroop A,Chavala SH

更新日期：2020-05-01 00:00:00

abstract：: ...

journal_title：Nature

authors： Zunger A

更新日期：2019-02-01 00:00:00

abstract：:Foreign protein antigens must be broken down within endosomes or lysosomes to generate suitable peptides that will form complexes with class II major histocompatibility complex molecules for presentation to T cells. However, it is not known which proteases are required for antigen processing. To investigate this, we e...

journal_title：Nature

authors： Manoury B,Hewitt EW,Morrice N,Dando PM,Barrett AJ,Watts C

更新日期：1998-12-17 00:00:00