Results 171 to 180 of about 26,472 (244)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Reaction Environment Engineering for Selective C3+ Formation in CO2 Electroreduction: Progress and Perspectives

Angewandte Chemie, EarlyView.
This work focuses on how to improve the selectivity and activity of electrocatalytic CO2 reduction to C3+ products, by the integration of electrocatalyst and electrolyte co‐design. We summarize key C3+ formation mechanisms and provide a comprehensive reaction network through thermodynamic analysis.
Ling Chen, Damien Voiry, Yan Jiao
wiley   +2 more sources

Berotralstat in hereditary angioedema due to C1 inhibitor deficiency: first real-world evidence from a Canadian center. [PDF]

Front Immunol
Srinivasan C, Ritchie B, Adatia A.
europepmc   +1 more source

The diagnostic value of the circadian rhythm gene KLF10 in anxiety‐depressive disorders and its neuroimmune regulatory mechanisms

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu, Weifeng Guo, Jianxiang Li, Tiange Zhang, Dan Xu   +4 more
wiley   +1 more source

Organocatalytic Enantioselective Addition of Malonates to Cyclic Imines: A Short Total Synthesis of Tetraponerine T‐1

Angewandte Chemie, EarlyView.
A stereoselective functionalization method of cyclic imines under mild organocatalytic conditions was developed. Bifunctional cinchona alkaloid catalysts combined with carefully optimized reaction conditions to suppress background reactivity enabled highly enantio‐ and diastereoselective addition reactions of malonates to cyclic imines.
Frederic Kölblin, Helma Wennemers
wiley   +2 more sources

Carbon‐Encapsulated Gemini Ionic Liquid as Advanced Bromine Hosts for High‐Performance Zn–Br2 Batteries

Angewandte Chemie, EarlyView.
Rapid self‐discharge limits the practical deployment of Zn–Br2 batteries. Herein, a gemini ionic liquid featuring dual bromine‐binding sites and an aromatic linker is confined within porous carbon electrodes. The ionic liquid simultaneously complexes bromine species and interacts strongly with the carbon matrix, enabling efficient bromine retention ...
Vishwakarma Ravikumar Ramlal, Elayaperumal Sujithkrishnan, Langyuan Wu, Sakengali Kazhiyev, Subramanian Sowmya, Pradip Mamilwad, Sagiv Weintraub, Amey Nimkar, Zhou Yu, Daniel Sharon, Netanel Shpigel   +10 more
wiley   +2 more sources

From Berzelius to Hyperspace: Previously Unrecognized Network of Reactivity in Textbook Brominations

Angewandte Chemie, EarlyView.
Robotic scans across multidimensional condition spaces of classic bromination reactions uncover regions of previously unrecognized reactivity, yielding new major products and novel substitution patterns. Correlation and anticorrelation analyses of product distributions across these hyperspaces enable reconstruction of the underlying mechanistic ...
Yankai Jia, Wai‐Shing Wong, Yasemin Bilgi‐Gadina, Louis P. J.‐L. Gadina, King‐Lam Kwong, Yanqiu Jiang, Nikolaos Vagkidis, Benito Marazzi, Peter R. Schreiner, Bartosz A. Grzybowski   +9 more
wiley   +2 more sources

Acute Abdominal Pain as the Initial Presentation of an Acquired C1 Inhibitor Deficiency. [PDF]

GE Port J Gastroenterol
Pinto AR, Carolino F.
europepmc   +1 more source

Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency. [PDF]

Cent Eur J Immunol, 2020
Obtulowicz K, KsiĄŻek T, Bogdali A, Dyga W, Czarnobilska E, Juchacz A.   +5 more
europepmc   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources