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Article ; Online: Improving in vitro continuous cultivation of Plasmodium cynomolgi, a model for P. vivax.

Christensen, Peter / Racklyeft, Annie / Ward, Kurt E / Matheson, Jessica / Suwanarusk, Rossarin / Chua, Adeline C Y / Kaneko, Osamu / Aung, Htin Lin / Rénia, Laurent / Amanzougaghene, Nadia / Magneron, Victor / Lemaitre, Julien / Le Grand, Roger / Kyle, Dennis / Bifani, Pablo / Cook, Gregory M / Snounou, Georges / Russell, Bruce

Parasitology international

2022 Volume 89, Page(s) 102589

Abstract: ... clinical sampling. Such a method has recently been developed for the Berok strain of P. cynomolgi ... a parasite of macaques that has long been used as a model for P. vivax, as these two parasites are nearly ... indistinguishable biologically and are genetically closely related. The availability of the P. cynomolgi Berok ...

Abstract	The absence of a routine continuous in vitro cultivation method for Plasmodium vivax, an important globally distributed parasite species causing malaria in humans, has restricted investigations to field and clinical sampling. Such a method has recently been developed for the Berok strain of P. cynomolgi, a parasite of macaques that has long been used as a model for P. vivax, as these two parasites are nearly indistinguishable biologically and are genetically closely related. The availability of the P. cynomolgi Berok in routine continuous culture provides for the first time an opportunity to conduct a plethora of functional studies. However, the initial cultivation protocol proved unsuited for investigations requiring extended cultivation times, such as reverse genetics and drug resistance. Here we have addressed some of the critical obstacles to this, and we propose a set of modifications that help overcome them.
MeSH term(s)	Animals ; Macaca/parasitology ; Malaria/parasitology ; Malaria, Vivax/parasitology ; Parasites ; Plasmodium cynomolgi ; Plasmodium vivax
Language	English
Publishing date	2022-04-22
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1363151-2
ISSN	1873-0329 ; 1383-5769
ISSN (online)	1873-0329
ISSN	1383-5769
DOI	10.1016/j.parint.2022.102589
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Article ; Online: Design and synthesis of a NAD(P)H:quinone oxidoreductase 1-activatable photosensitiser for controlled photodynamic therapy.

Xue, Evelyn Y / Kang, Fangyuan / Zhou, Yimin / Ng, Dennis K P

Chemical communications (Cambridge, England)

2023 Volume 59, Issue 46, Page(s) 7056–7059

Abstract: ... towards the cancer-associated human NAD(P)H:quinone oxidoreductase 1, enabling the controlled restoration ...

Abstract	The utilisation of enzymes as stimuli can activate theranostic agents in a highly specific manner. We report herein a far-red-absorbing boron dipyrromethene-based photosensitiser that is responsive towards the cancer-associated human NAD(P)H:quinone oxidoreductase 1, enabling the controlled restoration of photodynamic activity for selective elimination of cancer cells.
MeSH term(s)	Humans ; Photosensitizing Agents/pharmacology ; NAD ; NAD(P)H Dehydrogenase (Quinone) ; Photochemotherapy ; Quinones
Chemical Substances	Photosensitizing Agents ; NAD (0U46U6E8UK) ; NAD(P)H Dehydrogenase (Quinone) (EC 1.6.5.2) ; Quinones ; quinone (3T006GV98U)
Language	English
Publishing date	2023-06-06
Publishing country	England
Document type	Journal Article
ZDB-ID	1472881-3
ISSN	1364-548X ; 1359-7345 ; 0009-241X
ISSN (online)	1364-548X
ISSN	1359-7345 ; 0009-241X
DOI	10.1039/d3cc00683b
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Article ; Online: The previously uncharacterized RnpM (YlxR) protein modulates the activity of ribonuclease P in Bacillus subtilis in vitro.

Wicke, Dennis / Neumann, Piotr / Gößringer, Markus / Chernev, Aleksandar / Davydov, Swetlana / Poehlein, Anja / Daniel, Rolf / Urlaub, Henning / Hartmann, Roland K / Ficner, Ralf / Stülke, Jörg

Nucleic acids research

2023 Volume 52, Issue 3, Page(s) 1404–1419

Abstract: ... of the essential RNase P as the binding partner of YlxR. The main activity of RNase P is the processing of 5' ends ... RNase P activity. Chemical cross-linking studies followed by in silico docking analysis and experiments ... with site-directed mutant proteins suggest that YlxR binds to the region of the RNase P RNA that is ...

Abstract	Even though Bacillus subtilis is one of the most studied organisms, no function has been identified for about 20% of its proteins. Among these unknown proteins are several RNA- and ribosome-binding proteins suggesting that they exert functions in cellular information processing. In this work, we have investigated the RNA-binding protein YlxR. This protein is widely conserved in bacteria and strongly constitutively expressed in B. subtilis suggesting an important function. We have identified the RNA subunit of the essential RNase P as the binding partner of YlxR. The main activity of RNase P is the processing of 5' ends of pre-tRNAs. In vitro processing assays demonstrated that the presence of YlxR results in reduced RNase P activity. Chemical cross-linking studies followed by in silico docking analysis and experiments with site-directed mutant proteins suggest that YlxR binds to the region of the RNase P RNA that is important for binding and cleavage of the pre-tRNA substrate. We conclude that the YlxR protein is a novel interaction partner of the RNA subunit of RNase P that serves to finetune RNase P activity to ensure appropriate amounts of mature tRNAs for translation. We rename the YlxR protein RnpM for RNase P modulator.
MeSH term(s)	Bacillus subtilis/genetics ; Bacillus subtilis/metabolism ; Bacterial Proteins/metabolism ; Endoribonucleases/metabolism ; Ribonuclease P/metabolism ; RNA Precursors/metabolism ; RNA, Bacterial/metabolism ; RNA, Transfer/metabolism ; RNA-Binding Proteins/metabolism
Chemical Substances	Bacterial Proteins ; Endoribonucleases (EC 3.1.-) ; Ribonuclease P (EC 3.1.26.5) ; RNA Precursors ; RNA, Bacterial ; RNA, Transfer (9014-25-9) ; RNA-Binding Proteins
Language	English
Publishing date	2023-12-05
Publishing country	England
Document type	Journal Article
ZDB-ID	186809-3
ISSN	1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
ISSN (online)	1362-4962 ; 1362-4954
ISSN	0301-5610 ; 0305-1048
DOI	10.1093/nar/gkad1171
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Article: MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.

Marsili, Luisa / van Lint, Freyja H M / Russo, Francesco / van Spaendonck-Zwarts, Karin Y / Ader, Flavie / Bichon, Marie-Line / Faivre, Laurence / Houweling, Arjan C / Isidor, Bertrand / Lekanne Deprez, Ronald H / Cox, Moniek G P J / Wilde, Arthur A M / Mazel, Benoit / Mercier, Sandra / Dooijes, Dennis / Millat, Gilles / Nguyen, Karine / Post, Jan G / Richard, Pascale /

van de Beek, Irma / Vermeer, Alexa M C / Boven, Ludolf / Jongbloed, Jan D H / van Tintelen, J Peter

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

2023 Volume 31, Issue 7-8, Page(s) 300–307

Abstract: Introduction: The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients ... individuals carried the MYH7 p.(Arg1712Gln) variant, of whom 38 (72%) were diagnosed ... a founder effect in a subset of patients.: Conclusion: MYH7 p.(Arg1712Gln) is a pathogenic founder variant ...

Abstract	Introduction: The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database. We aimed to delineate its associated phenotype and evaluate a potential founder effect. Methods: We retrospectively collected clinical and genetic data of 22 probands and 74 family members from an international cohort. Results: In total, 53 individuals carried the MYH7 p.(Arg1712Gln) variant, of whom 38 (72%) were diagnosed with hypertrophic cardiomyopathy (HCM). Mean age at HCM diagnosis was 48.8 years (standard deviation: 18.1; range: 8-74). The clinical presentation ranged from asymptomatic HCM to arrhythmias (atrial fibrillation and malignant ventricular arrhythmias). Aborted sudden cardiac death (SCD) leading to the diagnosis of HCM occurred in one proband at the age of 68 years, and a family history of SCD was reported by 39% (5/13) probands. Neither heart failure deaths nor heart transplants were reported. Women had a generally later-onset disease, with 14% of female carriers diagnosed with HCM at age 50 years compared with 54% of male carriers. In both sexes, the disease was fully penetrant by age 75 years. Haplotypes were reconstructed for 35 patients and showed a founder effect in a subset of patients. Conclusion: MYH7 p.(Arg1712Gln) is a pathogenic founder variant with a consistent HCM phenotype that may present with delayed penetrance. This suggested that clinical follow-up should be pursued after the seventh decade in healthy carriers and that longer intervals between screening may be justified in healthy women < 30 years.
Language	English
Publishing date	2023-07-24
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2211468-3
ISSN	1876-6250 ; 1568-5888 ; 0929-7456
ISSN (online)	1876-6250
ISSN	1568-5888 ; 0929-7456
DOI	10.1007/s12471-023-01798-9
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Article ; Online: Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.

Liu, Jingjing / Prager-van der Smissen, Wendy J C / Collée, J Margriet / Bolla, Manjeet K / Wang, Qin / Michailidou, Kyriaki / Dennis, Joe / Ahearn, Thomas U / Aittomäki, Kristiina / Ambrosone, Christine B / Andrulis, Irene L / Anton-Culver, Hoda / Antonenkova, Natalia N / Arndt, Volker / Arnold, Norbert / Aronson, Kristan J / Augustinsson, Annelie / Auvinen, Päivi / Becher, Heiko /

Beckmann, Matthias W / Behrens, Sabine / Bermisheva, Marina / Bernstein, Leslie / Bogdanova, Natalia V / Bogdanova-Markov, Nadja / Bojesen, Stig E / Brauch, Hiltrud / Brenner, Hermann / Briceno, Ignacio / Brucker, Sara Y / Brüning, Thomas / Burwinkel, Barbara / Cai, Qiuyin / Cai, Hui / Campa, Daniele / Canzian, Federico / Castelao, Jose E / Chang-Claude, Jenny / Chanock, Stephen J / Choi, Ji-Yeob / Christiaens, Melissa / Clarke, Christine L / Couch, Fergus J / Czene, Kamila / Daly, Mary B / Devilee, Peter / Dos-Santos-Silva, Isabel / Dwek, Miriam / Eccles, Diana M / Eliassen, A Heather / Fasching, Peter A / Figueroa, Jonine / Flyger, Henrik / Fritschi, Lin / Gago-Dominguez, Manuela / Gapstur, Susan M / García-Closas, Montserrat / García-Sáenz, José A / Gaudet, Mia M / Giles, Graham G / Goldberg, Mark S / Goldgar, David E / Guénel, Pascal / Haiman, Christopher A / Håkansson, Niclas / Hall, Per / Harrington, Patricia A / Hart, Steven N / Hartman, Mikael / Hillemanns, Peter / Hopper, John L / Hou, Ming-Feng / Hunter, David J / Huo, Dezheng / Ito, Hidemi / Iwasaki, Motoki / Jakimovska, Milena / Jakubowska, Anna / John, Esther M / Kaaks, Rudolf / Kang, Daehee / Keeman, Renske / Khusnutdinova, Elza / Kim, Sung-Won / Kraft, Peter / Kristensen, Vessela N / Kurian, Allison W / Le Marchand, Loic / Li, Jingmei / Lindblom, Annika / Lophatananon, Artitaya / Luben, Robert N / Lubiński, Jan / Mannermaa, Arto / Manoochehri, Mehdi / Manoukian, Siranoush / Margolin, Sara / Mariapun, Shivaani / Matsuo, Keitaro / Maurer, Tabea / Mavroudis, Dimitrios / Meindl, Alfons / Menon, Usha / Milne, Roger L / Muir, Kenneth / Mulligan, Anna Marie / Neuhausen, Susan L / Nevanlinna, Heli / Offit, Kenneth / Olopade, Olufunmilayo I / Olson, Janet E / Olsson, Håkan / Orr, Nick / Park, Sue K / Peterlongo, Paolo / Peto, Julian / Plaseska-Karanfilska, Dijana / Presneau, Nadege / Rack, Brigitte / Rau-Murthy, Rohini / Rennert, Gad / Rennert, Hedy S / Rhenius, Valerie / Romero, Atocha / Ruebner, Matthias / Saloustros, Emmanouil / Schmutzler, Rita K / Schneeweiss, Andreas / Scott, Christopher / Shah, Mitul / Shen, Chen-Yang / Shu, Xiao-Ou / Simard, Jacques / Sohn, Christof / Southey, Melissa C / Spinelli, John J / Tamimi, Rulla M / Tapper, William J / Teo, Soo H / Terry, Mary Beth / Torres, Diana / Truong, Thérèse / Untch, Michael / Vachon, Celine M / van Asperen, Christi J / Wolk, Alicja / Yamaji, Taiki / Zheng, Wei / Ziogas, Argyrios / Ziv, Elad / Torres-Mejía, Gabriela / Dörk, Thilo / Swerdlow, Anthony J / Hamann, Ute / Schmidt, Marjanka K / Dunning, Alison M / Pharoah, Paul D P / Easton, Douglas F / Hooning, Maartje J / Martens, John W M / Hollestelle, Antoinette

Scientific reports

2020 Volume 10, Issue 1, Page(s) 9688

Abstract: ... with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E ... 327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were ... not associated with breast cancer risk, the risk estimation for p.R217C was not very precise ...

Abstract	In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR = 1.035, 95% CI = 0.859-1.246, P = 0.718 and OR = 0.798, 95% CI = 0.482-1.322, P = 0.381 respectively), nor in specific high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene.
MeSH term(s)	Breast Neoplasms/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genotyping Techniques ; Germ-Line Mutation/genetics ; Homeodomain Proteins/genetics ; Humans ; Middle Aged ; Risk Factors
Chemical Substances	HOXB13 protein, human ; Homeodomain Proteins
Language	English
Publishing date	2020-06-16
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-020-65665-y
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Article ; Online: Spiking Neural P Systems With Learning Functions.

Song, Tao / Pan, Linqiang / Wu, Tingfang / Zheng, Pan / Wong, M L Dennis / Rodriguez-Paton, Alfonso

IEEE transactions on nanobioscience

2019 Volume 18, Issue 2, Page(s) 176–190

Abstract: Spiking neural P systems (SN P systems) are a class of distributed and parallel neural-like ... of the systems, called SN P systems with learning functions, is introduced. Such systems can dynamically ... strengthen and weaken connections among neurons during the computation. A class of specific SN P systems ...

Abstract	Spiking neural P systems (SN P systems) are a class of distributed and parallel neural-like computing models, inspired from the way neurons communicate by means of spikes. In this paper, a new variant of the systems, called SN P systems with learning functions, is introduced. Such systems can dynamically strengthen and weaken connections among neurons during the computation. A class of specific SN P systems with simple Hebbian learning function is constructed to recognize English letters. The experimental results show that the SN P systems achieve average accuracy rate 98.76% in the test case without noise. In the test cases with low, medium, and high noises, the SN P systems outperform back propagation neural networks and probabilistic neural networks. Moreover, comparing with spiking neural networks, SN P systems perform a little better in recognizing letters with noise. The result of this paper is promising in terms of the fact that it is the first attempt to use SN P systems in pattern recognition after many theoretical advancements of SN P systems, and SN P systems exhibit the feasibility for tackling pattern recognition problems.
MeSH term(s)	Machine Learning ; Neural Networks, Computer
Language	English
Publishing date	2019-02-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1558-2639
ISSN (online)	1558-2639
DOI	10.1109/TNB.2019.2896981
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Article ; Online: A Phosphorus Analogue of p-Quinodimethane with a Planar P

Rottschäfer, Dennis / Neumann, Beate / Stammler, Hans-Georg / Kishi, Ryohei / Nakano, Masayoshi / Ghadwal, Rajendra S

Chemistry (Weinheim an der Bergstrasse, Germany)

2019 Volume 25, Issue 13, Page(s) 3244–3247

Abstract: ... opportunities for controlling the properties of derived species. A phosphorus analogue of p-quinodimethane (pQDM ...

Abstract	Para-quinodimethane (pQDM) is a fundamental structural component in many π-conjugated organic molecules and materials. The incorporation of phosphorus atom into π-conjugated frameworks offers unique opportunities for controlling the properties of derived species. A phosphorus analogue of p-quinodimethane (pQDM), (IPrC)
Language	English
Publishing date	2019-02-04
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1478547-x
ISSN	1521-3765 ; 0947-6539
ISSN (online)	1521-3765
ISSN	0947-6539
DOI	10.1002/chem.201805932
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Article ; Online: Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation.

Weng, Lu-Chen / Hall, Amelia Weber / Choi, Seung Hoan / Jurgens, Sean J / Haessler, Jeffrey / Bihlmeyer, Nathan A / Grarup, Niels / Lin, Honghuang / Teumer, Alexander / Li-Gao, Ruifang / Yao, Jie / Guo, Xiuqing / Brody, Jennifer A / Müller-Nurasyid, Martina / Schramm, Katharina / Verweij, Niek / van den Berg, Marten E / van Setten, Jessica / Isaacs, Aaron /

Ramírez, Julia / Warren, Helen R / Padmanabhan, Sandosh / Kors, Jan A / de Boer, Rudolf A / van der Meer, Peter / Sinner, Moritz F / Waldenberger, Melanie / Psaty, Bruce M / Taylor, Kent D / Völker, Uwe / Kanters, Jørgen K / Li, Man / Alonso, Alvaro / Perez, Marco V / Vaartjes, Ilonca / Bots, Michiel L / Huang, Paul L / Heckbert, Susan R / Lin, Henry J / Kornej, Jelena / Munroe, Patricia B / van Duijn, Cornelia M / Asselbergs, Folkert W / Stricker, Bruno H / van der Harst, Pim / Kääb, Stefan / Peters, Annette / Sotoodehnia, Nona / Rotter, Jerome I / Mook-Kanamori, Dennis O / Dörr, Marcus / Felix, Stephan B / Linneberg, Allan / Hansen, Torben / Arking, Dan E / Kooperberg, Charles / Benjamin, Emelia J / Lunetta, Kathryn L / Ellinor, Patrick T / Lubitz, Steven A

Circulation. Genomic and precision medicine

2020 Volume 13, Issue 5, Page(s) 387–395

Abstract: Background: The P-wave duration (PWD) is an electrocardiographic measurement that represents ...

Abstract	Background: The P-wave duration (PWD) is an electrocardiographic measurement that represents cardiac conduction in the atria. Shortened or prolonged PWD is associated with atrial fibrillation (AF). We used exome-chip data to examine the associations between common and rare variants with PWD. Methods: Fifteen studies comprising 64 440 individuals (56 943 European, 5681 African, 1186 Hispanic, 630 Asian) and ≈230 000 variants were used to examine associations with maximum PWD across the 12-lead ECG. Meta-analyses summarized association results for common variants; gene-based burden and sequence kernel association tests examined low-frequency variant-PWD associations. Additionally, we examined the associations between PWD loci and AF using previous AF genome-wide association studies. Results: We identified 21 common and low-frequency genetic loci (14 novel) associated with maximum PWD, including several AF loci ( Conclusions: Our results highlight multiple novel genetic loci associated with PWD, and underscore the shared mechanisms of atrial conduction and AF. Prolonged PWD may be an endophenotype for several different genetic mechanisms of AF.
MeSH term(s)	Atrial Fibrillation/ethnology ; Atrial Fibrillation/genetics ; Atrial Fibrillation/physiopathology ; Cardiac Myosins/genetics ; Connectin/genetics ; Electrocardiography ; Genetic Variation ; Genome-Wide Association Study ; Homeodomain Proteins/genetics ; Humans ; Myosin Heavy Chains/genetics ; NAV1.8 Voltage-Gated Sodium Channel/genetics ; Quantitative Trait Loci ; Transcription Factors/genetics ; Homeobox Protein PITX2
Chemical Substances	Connectin ; Homeodomain Proteins ; MYH6 protein, human ; NAV1.8 Voltage-Gated Sodium Channel ; SCN10A protein, human ; TTN protein, human ; Transcription Factors ; Cardiac Myosins (EC 3.6.1.-) ; Myosin Heavy Chains (EC 3.6.4.1)
Language	English
Publishing date	2020-08-21
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ISSN	2574-8300
ISSN (online)	2574-8300
DOI	10.1161/CIRCGEN.119.002874
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Article ; Online: Unraveling Electron Dynamics in p-type Indium Phosphide (100): A Time-Resolved Two-Photon Photoemission Study.

Diederich, Jonathan / Velasquez Rojas, Jennifer / Zare Pour, Mohammad Amin / Ruiz Alvarado, Isaac Azahel / Paszuk, Agnieszka / Sciotto, Rachele / Höhn, Christian / Schwarzburg, Klaus / Ostheimer, David / Eichberger, Rainer / Schmidt, Wolf Gero / Hannappel, Thomas / van de Krol, Roel / Friedrich, Dennis

Journal of the American Chemical Society

2024 Volume 146, Issue 13, Page(s) 8949–8960

Abstract: ... photovoltaic (PV) applications. The p(2 × 2)/c(4 × 2)-reconstructed phosphorus-terminated p-doped InP(100) (P ... rich p-InP) surface is the focus of our investigation. We employ time-resolved two-photon photoemission ... The study shows the complexity of the p-InP electronic band structure and reveals the presence of at least ...

Abstract	Renewable ("green") hydrogen production through direct photoelectrochemical (PEC) water splitting is a potential key contributor to the sustainable energy mix of the future. We investigate the potential of indium phosphide (InP) as a reference material among III-V semiconductors for PEC and photovoltaic (PV) applications. The p(2 × 2)/c(4 × 2)-reconstructed phosphorus-terminated p-doped InP(100) (P-rich p-InP) surface is the focus of our investigation. We employ time-resolved two-photon photoemission (tr-2PPE) spectroscopy to study electronic states near the band gap with an emphasis on normally unoccupied conduction band states that are inaccessible through conventional single-photon emission methods. The study shows the complexity of the p-InP electronic band structure and reveals the presence of at least nine distinct states between the valence band edge and vacuum energy, including a valence band state, a surface defect state pinning the Fermi level, six unoccupied surface resonances within the conduction band, as well as a cluster of states about 1.6 eV above the CBM, identified as a bulk-to-surface transition. Furthermore, we determined the decay constants of five of the conduction band states, enabling us to track electron relaxation through the bulk and surface conduction bands. This comprehensive understanding of the electron dynamics in p-InP(100) lays the foundation for further exploration and surface engineering to enhance the properties and applications of p-InP-based III-V-compounds for,
Language	English
Publishing date	2024-03-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	3155-0
ISSN	1520-5126 ; 0002-7863
ISSN (online)	1520-5126
ISSN	0002-7863
DOI	10.1021/jacs.3c12487
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Article ; Online: Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.

Kang, Seok Kyu / Hawkins, Nicole A / Thompson, Christopher H / Baker, Erin M / Echevarria-Cooper, Dennis M / Barse, Levi / Thenstedt, Tyler / Dixon, Conor J / Speakes, Nathan / George, Alfred L / Kearney, Jennifer A

Neurobiology of disease

2024 Volume 194, Page(s) 106470

Abstract: ... frequently identified recurrent variant is KCNB1-p.R306C, a missense variant located within the S4 voltage ... of-function and dominant-negative variants, KCNB1-p.R306C does not affect channel expression, but rather ...

Abstract	Pathogenic variants in KCNB1 are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment, abnormal electroencephalogram (EEG) patterns, and epilepsy with variable age of onset and severity. Additionally, there are prominent behavioral disturbances, including hyperactivity, aggression, and features of autism spectrum disorder. The most frequently identified recurrent variant is KCNB1-p.R306C, a missense variant located within the S4 voltage-sensing transmembrane domain. Individuals with the R306C variant exhibit mild to severe developmental delays, behavioral disorders, and a diverse spectrum of seizures. Previous in vitro characterization of R306C described altered sensitivity and cooperativity of the voltage sensor and impaired capacity for repetitive firing of neurons. Existing Kcnb1 mouse models include dominant negative missense variants, as well as knockout and frameshifts alleles. While all models recapitulate key features of KCNB1 encephalopathy, mice with dominant negative alleles were more severely affected. In contrast to existing loss-of-function and dominant-negative variants, KCNB1-p.R306C does not affect channel expression, but rather affects voltage-sensing. Thus, modeling R306C in mice provides a novel opportunity to explore impacts of a voltage-sensing mutation in Kcnb1. Using CRISPR/Cas9 genome editing, we generated the Kcnb1
MeSH term(s)	Animals ; Mice ; Autism Spectrum Disorder/pathology ; Brain Diseases/pathology ; Epilepsy/pathology ; Mutation ; Phenotype ; Seizures
Chemical Substances	Kcnb1 protein, mouse
Language	English
Publishing date	2024-03-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2024.106470
Database	MEDical Literature Analysis and Retrieval System OnLINE

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