Results 201 to 210 of about 346,586 (246)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Magnetic Resonance Reveals Radical Stability in Native Biofilms and Its Role in Bacterial Resistance

Angewandte Chemie, EarlyView.
The complex biofilm environment consists of planktonic bacterial cells and cells embedded in an extracellular matrix (ECM). Through an integrated magnetic resonance approach, we show that nitroxide radicals primarily interact with the polysaccharides and lipids in the ECM.
Alysia Mandato, Hannah Hunter, Sadhana Srinivasa, Chang‐Hyeock Byeon, Abdulkadir Tunc, Meghan K. Wells, Faith J. Scott, Frederic Mentink‐Vigier, Wook Kim, Sunil Saxena, Ümit Akbey   +10 more
wiley   +2 more sources

Marker-Assisted Selection of Soybean E-Locus Alleles Using Functional and Linked Markers: Phenotypic Validation Under High-Latitude Conditions. [PDF]

Life (Basel)
Maikotov B, Zhumaliyeva G, Didorenko S, Kushanova R, Zinchenko A, Bastaubayeva S, Ahmed Z, Yerzhebayeva R.   +7 more
europepmc   +1 more source

Screening Central Asian Wheat Germplasm for Powdery Mildew Resistance and Molecular Characterization of Disease Resistance Genes. [PDF]

Plants (Basel)
Nosherwan M, Latif MH, Ma J, Chen T, Saqlain M, Guo Q, Zhang K, Wang C, Zhu W, Xu L, Wu D, Zhou Y, Kang H, Li Y.   +13 more
europepmc   +1 more source

Eine Sesterterpensynthase für Tibonen und ein Cytochrom P450 für Dessen Oxidation zu Tibonon aus Streptomyces sp. YIM 121038

Angewandte Chemie, EarlyView.
Ein Biosynthese‐Gencluster aus Streptomyces sp. YIM 121038 wurde untersucht, wobei die Produktion des Sesterterpens Tibonen A und seines Oxidationsprodukts Tibonon nachgewiesen wurde. Der Cyclisierungsmechanismus zu Tibonen A wurde mittels Isotopenmarkierungsexperimenten, DFT‐Berechnungen und Eingriffen in die Enzym‐Substrat‐Wechselwirkung durch ...
Min Wang, Zhiyuan Ren, Mengyao Zhang, Heng Li, Bernd Goldfuss, Jeroen S. Dickschat, Anwei Hou   +6 more
wiley   +1 more source

Sequential Design of Activatable Photosensitizers for Ablation of Glioma Cells in Brain Cancer Tissues

Angewandte Chemie, EarlyView.
Gal‐SeNBD‐oleamide is an activatable photosensitizer (PS) with efficient uptake and selective, β‐galactosidase‐triggered activation in cancer cells, enabling efficient photodynamic ablation of glioma cells directly in brain tissue slices from mouse preclinical models and human glioblastoma patients.
Utsa Karmakar, Zhiming Cheng, Andrew D. M. Green, Sam Benson, Eleni Nestoros, Clarissa Lim, Justyna Cholewa‐Waclaw, Fabio de Moliner, Paula Lusarreta, Deborah Seah, Alsadeg Bilal, Neza Alfazema, Thibaud Aymoz‐Bressot, Gillian Morrison, Sonja Vermeren, Steven M. Pollard, Paul M. Brennan, Michael G. Tanner, Marc Vendrell   +18 more
wiley   +2 more sources

Genetic Dissection of the Obesity Paradox in Carotid Atherosclerosis Using a Hyperlipidemic Mouse Cohort. [PDF]

Int J Mol Sci
Parvaresh K, Dalloul F, Chen MH, Shi LJ, Ali MS, Torikai H, Shi W.   +6 more
europepmc   +1 more source

Syntheses, X‐ray Crystal Structures, and Raman Spectra of Self‐Assembled XeO3 Chain and Network Complexes of Polytopic sp2‐ and sp3‐Nitrogen Bases

Angewandte Chemie, EarlyView.
Supramolecular 1‐D, 2‐D, and 3‐D networks comprised of ‐(‐O═Xe(O2)‐‐)‐∞ and ‐(‐Xe(O2)O‐‐‐HO(H)‐‐)‐∞ chains coordinated to polytopic N‐base ligands were synthesized and structurally characterized by X‐ray crystallography. Their Xe‐‐‐N and Xe‐‐‐O bonds are characteristic of σ–hole bonds in which the nucleophilic Lewis base sites of the N‐ligands, H2O ...
James T. Goettel, Hélène P. A. Mercier, Gary J. Schrobilgen   +2 more
wiley   +1 more source

Genotype imputation and error estimation in connected multiparental populations. [PDF]

Genetics
Zheng C, Bossolini E, Formanová N, Rohde A, Boer MP, van Eeuwijk FA.   +5 more
europepmc   +1 more source

The susceptibility to weight gain in male C57BL/6 mice fed high-fat diet is due to a small set of genes predominantly not expressed in the brain. [PDF]

Proc Natl Acad Sci U S A
Wu Y, Rudolf AM, Wang L, Zhang Z, Niu C, Xia F, Li M, Wang A, Derous D, Mitchell SE, Zhang H, He Y, Speakman JR.   +12 more
europepmc   +1 more source