Results 181 to 190 of about 264,220 (308)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

A New Metal‐Ester Bonding Motif for the Synthesis of Hybrid Molecular Catalysts on Metal Oxide Supports Leads to Tunable Reactivity

Angewandte Chemie, EarlyView.
This work reports a new metal–ester bonding strategy for anchoring molecular catalysts to metal oxide supports, achieving exceptionally high surface loadings. Catalyst reactivity is predictably tuned by the support's properties, enabling control over electronic behavior and reaction pathways, thus opening new possibilities for designing highly ...
Joseph J. Kuchta III, Sarah M. Moody, Alexia M. Bradbury, D. M. S. C. Dissanayake, Laura C. Maybach, Santosh K. Balijepalli, John R. Regalbuto, Aaron K. Vannucci   +7 more
wiley   +2 more sources

Species composition and vegetation structure of coastal and desert habitats in a hyper-arid environment. [PDF]

Sci Rep
Moustafa AA, Mansour SR, El-Ghani MMA.
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Enhancing Interfacial Charge Transport in Gold Nanoparticle@Polyaniline Hybrids via N‐Heterocyclic Carbene Linkers

Angewandte Chemie, EarlyView.
An amino‐functionalized NHC‐Au complex is employed as a conductive molecular linker to couple large Au NPs with PANI, yielding Au NP@NHC‐PANI hybrids with an electronically well‐defined interface. SAMs of these hybrids reveal enhanced charge transport compared with Au NP@PANI.
Ningwei Sun, Haoran Zhang, Ziwei Zhou, Po Yuen Ho, Ilka Hermes, Yanfei Gao, Shivam Singh, Dmitry A. Ryndyk, Olga Guskova, Zhenyang Jia, Tathagata Chatterjee, Antoine E. Jimenez, Kaline Pagnan Furlan, Marina Sebastian, Christian Rossner, Stephan Link, Christy F. Landes, Yana Vaynzof, Andreas Fery, Franziska S.‐C. Lissel   +19 more
wiley   +2 more sources

Climate and biocrust types jointly regulate soil multifunctionality and quality in drylands: evidence from the Gurbantunggut Desert. [PDF]

Front Plant Sci
Li Y, Gao Y, Huang Y, Lu Y, Yin B, Zhou X, Yu H, Zhang Y.   +7 more
europepmc   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source

Isotopic evidence for human adaptation to island environments in the Canary Islands during the Amazigh period. [PDF]

Sci Rep
Sánchez-Cañadillas E, Morquecho Izquier A, Smith C, Iriarte E, Santana J.   +4 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Effects of Foraging and Provisioning Behavior on Offspring Development in the Ground Nesting Carpenter Bee <i>Xylocopa</i> (<i>Proxylocopa</i>) <i>mongolicus</i> (Hymenoptera, Apidae, Xylocopini). [PDF]

Insects
Liu X, He C, Yang D, Yang L, Wei J, Dai Q, Wan J, Li J, Ma Y, Zhang K.   +9 more
europepmc   +1 more source