Results 181 to 190 of about 22,032 (260)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The Kink-Turn 7 Motif: An Additional Test for RNA Force Field Performance. [PDF]

J Chem Theory Comput
Lemmens T, Mlýnský V, Šponer J, Pykal M, Banáš P, Otyepka M, Krepl M.   +6 more
europepmc   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

Animal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala, Mohammadjavad Rezaei‐Varmaziar, Majid Taati, Ali Soleimanzadeh, Abbas Raisi, Farshid Davoodi, Amir Ali Shahbazfar   +6 more
wiley   +1 more source

Predicting Catalyst Performance From Pt/CeO2 Redispersion Kinetics

Angewandte Chemie, EarlyView.
Unravelling kinetics of dynamic structural changes in catalysts is the key to predicting their catalytic properties. ETEM experiments reveal a continuous decrease in Pt particle size on cube‐shaped CeO2 under oxidizing conditions, changing from large nanoparticles to highly dispersed species.
Florian Maurer, Agustin Salcedo, Maria Casapu, David Loffreda, Arik Beck, Paolo Dolcet, Mimoun Aouine, Thierry Epicier, Stephane Loridant, Philippe Vernoux, Carine Michel, Jan‐Dierk Grunwaldt   +11 more
wiley   +2 more sources

Unveiling solitary and twinning kink solitons in (2+1)-dimensional modified Zakharov-Kuznetsov equation arising in electronics. [PDF]

Sci Rep
Al-Sawalha MM, Noor S, Shah R, Yasmin H.
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Spontaneous Long‐Range Order and Alignment in Phase‐Separated Dynamic Covalent Networks Using Discrete Siloxanes

Angewandte Chemie, EarlyView.
Spontaneously aligned, long‐range hexagonal columnar ordering is obtained in phase‐separated dynamic covalent networks by combining discrete siloxanes and dynamic acylsemicarbazide bonds. The ordered network shows improved (thermo)mechanical properties and creep resistance compared to the disordered network.
Stefan J. D. Maessen, Tymen M. L. van der Leede, Anne B. Spoelstra, Bart W. L. van den Bersselaar, Bas F. M. de Waal, Johan P. A. Heuts, Anja R. A. Palmans   +6 more
wiley   +2 more sources

Mesoscale carbon fiber lattices with foam-like weight and bulk strength. [PDF]

Nat Commun
Choi JY, Ahn SH.
europepmc   +1 more source

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury

Annals of Neurology, EarlyView.
Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen, Justin M. Brown, Ross M. Mandeville, Harvey Wu, Sean Bristol, Peter K. Broadhurst, Erin Brown, Christopher Doherty, Amy K. Hanlan, Russell O'Connor, Lawrence R. Robinson, Kayton Rotenberg, J. Michael Hendry, Jana Dengler, Michael J. Berger   +14 more
wiley   +1 more source

Proteome‐Wide Target Identification Using Reactive Metallo‐Scaffolds (r‐mS): A Platform for Metallodrug Discovery

Angewandte Chemie, EarlyView.
Re‐envisioning the Ligandable Proteome: Reactive Metallo‐Scaffolds (r‐mS) combine non‐covalent protein engagement by a metallo‐scaffold with covalent cysteine capture through a tethered chloroacetamide warhead. Chemoproteomic profiling reveals unique enzyme engagement including ligases, kinases and methyltransferases, highlighting opportunities for ...
Jessica E. Waters, Harry Wilders, George S. Biggs, Mika Kintzel, Emma E. Cawood, Jonathan Bailey, Sarah Maslen, Yew Mun Yip, Mason Wakley, Ioannis G. Riziotis, Thomas W. Rees, Joanna Redmond, J. Mark Skehel, David House, Jacob Bush, Jeannine Hess   +15 more
wiley   +2 more sources